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Gene: Tulp1 MGI:109571

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
tubby like protein 1
Synonyms:
Tulp1l

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Tulp1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Tulp1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Macular Dystrophy, Patterned, 3
Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy OMIM:603649
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Abnormal electroretinogram, Attenuation o... OMIM:609923
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Abnormal electroretinogram, Cystoid macular degeneration, Subretinal fluid OMIM:153700
Leber Congenital Amaurosis 19
Optic disc pallor, Decreased light- and dark-adapted electroretinogram amplitude, Retinal degener... OMIM:618513
Macular Dystrophy, Retinal, 1, North Carolina Type
Drusen, Macular dystrophy, Abnormality of macular pigmentation, Peripheral retinal atrophy OMIM:136550
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Occult Macular Dystrophy
Abnormal multifocal electroretinogram, Macular dystrophy OMIM:613587
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Stargardt Disease 3
Macular dystrophy, Macular atrophy, Macular flecks OMIM:600110
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Macular Dystrophy, Vitelliform, 4
Drusen, Macular dystrophy, Decreased Arden ratio of electrooculogram, Vitelliform-like macular le... OMIM:616151
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Abnormal electroretinogram, Bull's eye maculopathy, Retinal degeneration OMIM:180020
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa Inversa With Deafness
Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Ceroid Lipofuscinosis, Neuronal, 2
Cerebral atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autoflu... OMIM:204500
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Bothnia Retinal Dystrophy
Macular degeneration, Abnormal electroretinogram, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Abnormal electroretinogram, Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Usher Syndrome, Type I
Rod-cone dystrophy, Abnormal electroretinogram, Undetectable electroretinogram OMIM:276900
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinitis, Abnormal ... ORPHA:85128
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Decreased light- and dark-adapted electroretinogram amplitude... OMIM:611809
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R... OMIM:610951
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Retinitis Pigmentosa 68
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Retinal atrophy OMIM:615725
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Usher Syndrome, Type Iv
Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retina, Retinal atrophy, Re... OMIM:618144
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Sorsby Fundus Dystrophy
Macular dystrophy, Abnormal electroretinogram, Chorioretinal atrophy OMIM:136900
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioretinal atroph... OMIM:143200
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Pigmentary retinopathy, Rod-cone dystro... OMIM:613731
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Hyperautofluorescent... OMIM:619007
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy OMIM:551500
Ceroid Lipofuscinosis, Neuronal, 3
Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescent lipopigme... OMIM:204200
X-Linked Retinoschisis
Retinoschisis, Abnormal electroretinogram ORPHA:792
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli... OMIM:619389
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Macular atrophy, Retinal degeneration OMIM:267760
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retinal blood vessels OMIM:617781
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Macular atrophy, Pigmentary retinopathy, Macular degener... OMIM:620342
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Ceroid Lipofuscinosis, Neuronal, 1
Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macular degenera... OMIM:256730
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Macular Degeneration, Age-Related, 3
Drusen, Macular degeneration, Decreased nerve conduction velocity, Choroidal neovascularization OMIM:608895
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:619090
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Macular atrophy, Ch... OMIM:613750
Nephronophthisis 15
Retinal degeneration OMIM:614845
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Macular Dystrophy, Vitelliform, 3
Choroidal neovascularization, Macular atrophy, Drusen, Vitelliform-like macular lesions, Macular ... OMIM:608161
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy, Hypoautofluorescent macu... OMIM:304020
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Intraretinal hemorrhage, Macular edema, Macular degeneration, P... ORPHA:411527
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Cerebral cortical atrophy, Increased neuronal autofluorescent lipopigment, Re... OMIM:256731
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, F... OMIM:611040
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Bietti Crystalline Dystrophy
Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment... ORPHA:41751
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Abnormal electroretinogram, Retinal flecks, Rod-cone dystr... OMIM:613194
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:613660
Nephronophthisis 14
Retinal degeneration OMIM:614844
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Retinal thinning, Congenital stationary night blindness with... ORPHA:215
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Congenital Glaucoma
Retinal detachment ORPHA:98976
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Vitreous floaters, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy, Peripheral retinal atrophy OMIM:615147
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Leber Congenital Amaurosis 2
Optic disc pallor, Fundus atrophy, Absent foveal reflex, Pigmentary retinopathy, Attenuation of r... OMIM:204100
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Ab... OMIM:193235
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Retinal hemorrhage, Central retinal exudate, Peripheral retinal degeneration OMIM:264420
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Rod-cone dystrophy, Cystoid macular ede... OMIM:617304
Retinopathy Of Prematurity
Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog... ORPHA:90050
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... OMIM:617406
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:252650
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Falciform retinal fold, Tractional retinal detachment OMIM:613310
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Macular atrophy, Attenuation of retinal blood vessels OMIM:604393
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy, Mizuo phenomenon ORPHA:75382
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Abnormal elect... OMIM:613767
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Hsd10 Mitochondrial Disease
Optic atrophy, Cerebral cortical atrophy, Retinal degeneration OMIM:300438
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:616648
Retinitis Pigmentosa 2
Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopathy, Rod-c... OMIM:312600
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Scheie Syndrome
Retinal degeneration OMIM:607016
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Optic atrophy, Retinal degeneration OMIM:616211
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Fundus atrophy, Optic disc drusen, Attenuation of retinal blood vessels OMIM:204000
Retinitis Pigmentosa 93
Rod-cone dystrophy, Retinal dots, Undetectable electroretinogram OMIM:619845
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Cofs Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:1466
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Cerebral cortical atrophy, Retinal degeneration, Degeneration of the latera... OMIM:604360
Narp Syndrome
Optic disc pallor, Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Corticospi... ORPHA:644
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys... OMIM:610127
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Macular degeneration, Retinal arter... OMIM:605549
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Asteroid hyalosis, Rod-cone dystrophy... OMIM:618173
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Perifoveal hypoautofluorescence OMIM:300029
Retinitis Pigmentosa 44
Rod-cone dystrophy, Decreased light- and dark-adapted electroretinogram amplitude, Attenuation of... OMIM:613769
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Freckling, Abnormality of macular pigmentation, Melanocytic nevus ORPHA:1573
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Undetectable light- and dark-adapted electroretinogram, At... OMIM:608380
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Abnorma... ORPHA:1215
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration, Mac... OMIM:270200
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Depigmented fundus, Abnormal morphology of the choroidal vasculature, Op... ORPHA:352731
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy ORPHA:404451
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Rod-cone dystr... OMIM:602772
Retinitis Pigmentosa 23
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Absent foveal reflex, Attenuation of reti... OMIM:300424
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... ORPHA:897
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Optic Atrophy 1
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy OMIM:165500
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Vitreous hemorrhage, Pigmentary retinopathy, Re... OMIM:193220
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopathy OMIM:616171
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Re... ORPHA:94058
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:613983
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Aceruloplasminemia
Retinal degeneration OMIM:604290
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Macular atrophy, Abnormal auditory evoke... OMIM:619260
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Absent foveal reflex, Pigm... ORPHA:52427
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Undetectable pattern electrore... OMIM:615860
Maternal Uniparental Disomy Of Chromosome 9
Retinal dysplasia ORPHA:96183
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Abnormality... OMIM:300476
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis, Vitreous floaters OMIM:605808
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Abnormal electroretinogram, Optic atrophy ORPHA:2971
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Cerebral atrophy, Pigmentary retinopathy, Retinal degenera... ORPHA:79264
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal pigment epitheli... OMIM:616468
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy OMIM:616722
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615233
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Peripapillary atrophy, Rod-cone dystr... OMIM:616469
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Rod-cone dystr... OMIM:615994
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Chorioretina... ORPHA:5
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy ORPHA:370968
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Retinal dystrophy, ... OMIM:617547
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia ORPHA:324416
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Non-Specific Early-Onset Epileptic Encephalopathy
Cerebral atrophy, Optic atrophy, Brain atrophy, Retinal degeneration ORPHA:442835
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:2518
Acute Zonal Occult Outer Retinopathy
Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal... ORPHA:284454
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atrophy, Neuro... ORPHA:391428
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked potentials... ORPHA:168491
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration OMIM:619780
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Abnormality of pattern visual evoked potentials, Undetectable electroretinogram ORPHA:1947
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Decreased light- and dark-adapted electroretinogram amplitu... OMIM:613341
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Retinal degeneration ORPHA:79244
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Optic atrop... OMIM:609033
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Abnorma... OMIM:125310
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Coloboma Of Macula
Macular coloboma OMIM:120300
Åland Islands Eye Disease
Hypoplasia of the fovea, Abnormal electroretinogram, Hypopigmentation of the fundus ORPHA:178333
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy, Hepatocellular necrosis OMIM:256000
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology, Abnormality of visual ... ORPHA:79431
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Patent ductus arteriosus ORPHA:290
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy OMIM:601152
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Chorioretinal ... OMIM:601777
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration ORPHA:284289
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Leber Congenital Amaurosis 15
Optic disc pallor, Pigmentary retinopathy, Peripapillary atrophy, Dull foveal reflex, Retinal deg... OMIM:613843
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Optic atrophy OMIM:256600
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Cafe-au-lait spot, Cerebral ... ORPHA:166035
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Abnormal electroretinogram OMIM:613216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy OMIM:613156
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Joubert Syndrome 22
Temporal cortical atrophy, Retinal dysplasia OMIM:615665
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:257270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials ORPHA:357225
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Attenuation of retinal blood vessels OMIM:300578
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Krabbe Disease
Abnormal flash visual evoked potentials, Optic atrophy OMIM:245200
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Cln3 Disease
Cerebellar atrophy, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Generalized ce... ORPHA:228346
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:1933
Mepan Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:508093
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation, Retinal fold OMIM:108145
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Vici Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Hypopigmentation of the skin, Cerebral cortic... ORPHA:1493
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Abnormal electroretinogram, Optic atrophy OMIM:616875
Nephronophthisis 11
Retinal degeneration OMIM:613550
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy, Hypopig... ORPHA:2715
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal amplitude of pattern reversal visual evoked potentials, Optic atrophy OMIM:125250
Micro Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Retinal coloboma, Abnormality of visual evoke... ORPHA:2510
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Undetectable visual evoked potentials, Optic atrophy OMIM:601338
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Peho Syndrome
Undetectable visual evoked potentials, Optic atrophy OMIM:260565
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Retinal dystrophy, Macular coloboma, Undetectable visual evoked potentials, Ap... ORPHA:423479
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic atrophy OMIM:268315
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration OMIM:272200
Pelizaeus-Merzbacher Disease
Abnormality of visual evoked potentials, Optic atrophy ORPHA:702
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy ORPHA:485421
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Axonal degeneration, Pigmentary retinopathy, Abnormal se... ORPHA:88628
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Atrophy of the spinal cord, Abnormality of pattern visual evoked potenti... ORPHA:2822
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor ORPHA:314389
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Retinal coloboma, Macular coloboma OMIM:107550
Vogt-Koyanagi-Harada Disease
Retinal detachment, Poliosis, Hypopigmented skin patches, Premature graying of hair, Vitiligo ORPHA:3437
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Werner Syndrome
Retinal degeneration OMIM:277700
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:585
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Hypoautofluorescent retinal lesion, Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Mohr-Tranebjaerg Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:52368
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia ORPHA:272
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Rod-cone dystrophy, Retinal dystrophy, Peripheral retinal degeneration ORPHA:168549
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy, Cerebral atrophy OMIM:222300
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Spinocerebellar Ataxia Type 1
Abnormal flash visual evoked potentials, Optic atrophy ORPHA:98755
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Xeroderma Pigmentosum, Complementation Group B
Cerebellar atrophy, Decreased nerve conduction velocity, Optic atrophy, Pigmentary retinopathy, F... OMIM:610651
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Microphthalmia, Isolated 8
Retinal detachment, Retinal coloboma, Optic nerve hypoplasia, Hypoplastic optic chiasm OMIM:615113
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy ORPHA:480898
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia OMIM:613154
Friedreich Ataxia
Abnormality of visual evoked potentials, Optic atrophy OMIM:229300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Bull's eye maculopathy, Optic atrophy, Pigmentary retinopathy, Retinal fle... ORPHA:157850
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Optic atrophy, Pigmentary retinopathy OMIM:617282
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy ORPHA:35069
Ectopia Lentis Et Pupillae
Retinal detachment, Iris transillumination defect OMIM:225200
Megalocornea
Retinal detachment, Iris transillumination defect OMIM:309300
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy ORPHA:412057
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Achalasia-Addisonianism-Alacrima Syndrome
Abnormality of visual evoked potentials, Optic atrophy OMIM:231550
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Abnormality of visual evoked potentials OMIM:614457
Oligocone Trichromacy
Abnormal electroretinogram ORPHA:75378
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Mpdu1-Cdg
Undetectable visual evoked potentials, Optic atrophy ORPHA:79323
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Senior-Loken Syndrome 8
Rod-cone dystrophy, Retinal dystrophy, Macular atrophy OMIM:616307
Mannosidosis, Alpha B, Lysosomal
Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atrophy, Retinal degeneration OMIM:248500
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Retinal hemorrhage, Angioid streaks of the fundus OMIM:177850
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration, Cerebellar cortical atrophy, Abnormal autonomic nervous system physiology, ... ORPHA:247234
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309256
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Cohen Syndrome
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal dystrophy, Bull's eye macul... OMIM:216550
Knobloch Syndrome
Retinal detachment, Patent ductus arteriosus, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309263
Bardet-Biedl Syndrome 1
Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hyperautofluor... OMIM:209900
Prolidase Deficiency
Abnormality of retinal pigmentation, White forelock ORPHA:742
Neuromuscular Oculoauditory Syndrome
Decreased nerve conduction velocity, Chorioretinal lacunae, Decreased amplitude of sensory action... OMIM:618733
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Abnormal fundus morphology, Cerebral atrophy, Macula... ORPHA:94147
Antiphospholipid Syndrome, Familial
Retinal vasculitis, Retinal detachment, Vitritis, Central retinal artery occlusion OMIM:107320
Infantile Krabbe Disease
Abnormality of visual evoked potentials, Cherry red spot of the macula, Optic atrophy ORPHA:206436
Usher Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:886
White-Sutton Syndrome
Abnormality of visual evoked potentials, Rod-cone dystrophy, Abnormal electroretinogram, Optic ne... OMIM:616364
Cutis Marmorata Telangiectatica Congenita
Retinal detachment OMIM:219250
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Neurodegeneration With Brain Iron Accumulation 1
Hyperpigmentation of the skin, Optic atrophy, Pigmentary retinopathy, Neurodegeneration, Cerebral... OMIM:234200
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206443
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials OMIM:619051
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Norrie Disease
Retinal detachment, Retinal fold, Optic atrophy, Retinal dysplasia OMIM:310600
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Mucopolysaccharidosis, Type Ii
Neurodegeneration, Papilledema, Abnormality of retinal pigmentation OMIM:309900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Enlarged flash visua... OMIM:253280
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Kniest Dysplasia
Retinal detachment, Rhegmatogenous retinal detachment, Lattice retinal degeneration, Vitreoretino... ORPHA:485
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Warburg Micro Syndrome 2
Undetectable visual evoked potentials, Optic atrophy OMIM:614225
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Hurler Syndrome
Neurodegeneration, Retinal degeneration OMIM:607014
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Macular coloboma, Atrophy of the spinal cord, Optic atrophy, Cerebral atrophy, Pigmentary retinop... ORPHA:79282
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy, Hepatic necrosis ORPHA:71212
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Patent ductus arteriosus OMIM:612582
Mogs-Cdg
Abnormality of visual evoked potentials, Optic atrophy ORPHA:79330
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy, Vitiligo OMIM:240300
Metachromatic Leukodystrophy, Adult Form
Abnormality of visual evoked potentials, Optic atrophy ORPHA:309271
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Gaucher Disease, Type I
Macular atrophy, Hyperpigmentation of the skin OMIM:230800
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Classic Homocystinuria
Retinal detachment, Optic atrophy, Abnormality of retinal pigmentation ORPHA:394
Ramon Syndrome
Optic disc pallor, Pigmentary retinopathy OMIM:266270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Optic nerve hypoplasia, Optic atrophy, Retinal dysplasia OMIM:236670
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Cohen Syndrome
Abnormality of skin pigmentation, Abnormality of retinal pigmentation, Chorioretinal dystrophy, O... ORPHA:193
Werner Syndrome
Premature graying of hair, Abnormality of retinal pigmentation, White forelock ORPHA:902
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Hermansky-Pudlak Syndrome
Abnormality of visual evoked potentials, Abnormal optic nerve morphology, Ocular albinism ORPHA:79430
Alstrom Syndrome
Cone/cone-rod dystrophy, Pigmentary retinopathy OMIM:203800
Coffin-Lowry Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:192
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma, Optic atrophy, Abno... ORPHA:50
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Retinal calcificat... ORPHA:790
Cockayne Syndrome A
Cerebellar atrophy, Retinal atrophy, Abnormal auditory evoked potentials, Decreased nerve conduct... OMIM:216400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplas... ORPHA:2526
Trichothiodystrophy
Macular degeneration, Numerous pigmented freckles, Diffuse cerebellar atrophy, Cerebral cortical ... ORPHA:33364
Cockayne Syndrome Type 3
Optic disc pallor, Retinal atrophy, Retinal dystrophy, Retinal hemorrhage, Premature graying of h... ORPHA:90324
Aprosencephaly And Cerebellar Dysgenesis
Retinal dysplasia OMIM:601374
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of peripheral somatosensory evoked potentials, Abnormality of retinal pigmentation, C... ORPHA:466768
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Decreased nerve con... ORPHA:580
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Hypermelanotic macule, Optic atrophy, Pigmentary retinopathy... ORPHA:90321
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy, Cerebral cortical atrophy OMIM:277400
Farber Disease
Macular degeneration, Cherry red spot of the macula, Brain atrophy ORPHA:333
Cerebrotendinous Xanthomatosis
Optic disc pallor, Optic neuropathy, Abnormal retinal vascular morphology, Optic atrophy, Hypermy... ORPHA:909
Knobloch Syndrome 2
Retinal detachment, Patent ductus arteriosus, Vitreoretinopathy, Vitreous floaters OMIM:618458
Mucopolysaccharidosis Type 3
Optic atrophy, Central nervous system degeneration, Pigmentary retinopathy, Rod-cone dystrophy, R... ORPHA:581
Osteopetrosis, Autosomal Recessive 5
Undetectable visual evoked potentials, Optic disc pallor, Optic atrophy OMIM:259720
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Patent ductus arteriosus, Pigmentary retinopathy, Cerebral c... OMIM:214100
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Abnormality of retinal pigmentation, Patent ductus arteriosus, Optic atrophy, Brain atrophy ORPHA:505248
Chédiak-Higashi Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Decreased nerv... ORPHA:167
Nijmegen Breakage Syndrome
Conjunctival telangiectasia, Retinal pigment epithelial mottling, Progressive vitiligo, Neurodege... OMIM:251260
Cockayne Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation, Optic disc pallor, Retinal atrophy, Reti... ORPHA:191
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy, Patent ductus arteriosus after premature birth OMIM:618460
Cockayne Syndrome B
Abnormality of visual evoked potentials, Pigmentary retinopathy, Optic atrophy OMIM:133540
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Chorioretinal degeneration, Reticular pigmentary degeneration,... ORPHA:1435
Bohring-Opitz Syndrome
Retinal atrophy, Optic atrophy ORPHA:97297
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials ORPHA:258
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Abetalipoproteinemia
Abnormality of retinal pigmentation, Rod-cone dystrophy, Hypopigmentation of the fundus ORPHA:14
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling, Atrophy/Degeneration involving the spinal cord OMIM:607459
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Osteopetrosis With Renal Tubular Acidosis
Cranial nerve compression, Retinal atrophy, Optic atrophy, Abnormal retinal morphology ORPHA:2785
Peroxisome Biogenesis Disorder 5A (Zellweger)
Cerebellar atrophy, Brushfield spots, Optic nerve dysplasia, Optic atrophy, Pigmentary retinopath... OMIM:614866
Melas
Optic atrophy, Pigmentary retinopathy, Brain atrophy, Cerebral cortical atrophy, Vitiligo ORPHA:550
Autosomal Recessive Malignant Osteopetrosis
Abnormality of visual evoked potentials, Optic nerve compression ORPHA:667
Microphthalmia With Linear Skin Defects Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy, Chorioretinal dysplasia, Vitritis, Abnorm... ORPHA:2556
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Choroidal neovascularization, Renal tubular epi... ORPHA:91500
Neurofibromatosis Type 1
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hypopigmented skin patches, M... ORPHA:636
Mitochondrial Complex I Deficiency, Nuclear Type 1
Undetectable visual evoked potentials, Optic disc pallor, Optic neuropathy OMIM:252010
Metachromatic Leukodystrophy
Abnormality of visual evoked potentials ORPHA:512
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation, Aganglionic megacolon ORPHA:175
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:217085
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Cerebellar atrophy, Optic atrophy, Cerebral atrophy, ... ORPHA:404454
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Optic atrophy, Reti... ORPHA:217093
Atypical Werner Syndrome
Abnormality of retinal pigmentation, Patchy hypo- and hyperpigmentation, Premature graying of hai... ORPHA:79474
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials OMIM:203700
Cystinosis, Nephropathic
Hypopigmentation of hair, Retinal pigment epithelial mottling, Cerebral atrophy, Pigmentary retin... OMIM:219800
Vici Syndrome
Hypopigmentation of hair, Macular atrophy, Albinism, Ocular albinism, Macular hypoplasia, Hypopig... OMIM:242840
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration, Fair hair, Attenuation of retinal bl... OMIM:266920
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Macular atrophy OMIM:619418
Pearson Syndrome
Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of the skin ORPHA:699
Proteus Syndrome
Abnormality of retinal pigmentation, Central heterochromia, Generalized hyperpigmentation, Retina... ORPHA:744
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy, Orthostatic hypotension OMIM:606721
Hardikar Syndrome
Pigmentary retinopathy, Patent ductus arteriosus OMIM:301068
Wiedemann-Rautenstrauch Syndrome
Pigmentary retinopathy, Optic atrophy, Optic disc hypoplasia ORPHA:3455
Alström Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Retinal pigment epithelial atrophy, Retinal dystrophy... ORPHA:64

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Tulp1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Tulp1.

No publications found that use IMPC mice or data for Tulp1.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
Tulp1tm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Tulp1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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