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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 associated to Tulp1 by orthology or direct annotation.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen 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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Undetectable elec... OMIM:610599
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinitis Pigmentosa 31
Abnormal electroretinogram, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pig... OMIM:609923
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Abnormal electroretinogram, Subretinal fluid OMIM:153700
Leber Congenital Amaurosis 19
Optic disc pallor, Decreased light- and dark-adapted electroretinogram amplitude, Attenuation of ... OMIM:618513
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:601780
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Electronegative electroretinogram, Retinal detachment,... OMIM:312700
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Macular Dystrophy, Vitelliform, 4
Macular dystrophy, Decreased Arden ratio of electrooculogram, Vitelliform-like macular lesions, D... OMIM:616151
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinal Cone Dystrophy 1
Abnormal electroretinogram, Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... 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
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... OMIM:204500
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Bothnia Retinal Dystrophy
Abnormal electroretinogram, Macular degeneration, Retinal dystrophy OMIM:607475
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Abnormal electroretinogram OMIM:165510
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration, Cerebellar atrophy OMIM:614322
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Choroideremia ORPHA:1243
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Usher Syndrome, Type I
Abnormal electroretinogram, Rod-cone dystrophy, Undetectable electroretinogram OMIM:276900
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Bestrophinopathy, Autosomal Recessive
Decreased light- and dark-adapted electroretinogram amplitude, Retinal flecks, Retinal pigment ep... OMIM:611809
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Retinopathy, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, Cerebell... OMIM:610951
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Corticospinal tract atrophy, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Cerebral atrophy, Retinal degeneration OMIM:616211
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
X-Linked Retinoschisis
Abnormal electroretinogram, Retinoschisis ORPHA:792
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Retinal pigment epithelial mottling, Corpus callosum atrophy, Optic di... OMIM:619389
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Abnormal light-adapted electroretinogram, Retinal detachment, Cone dystrophy, Cone/cone-rod dystr... OMIM:304030
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Rod-cone dystrophy, Macular degeneration, Cerebral atrophy, Increased extra... OMIM:204200
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Increased neuronal a... OMIM:256730
Ceroid Lipofuscinosis, Neuronal, 5
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Cerebellar atrophy OMIM:256731
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Sorsby Fundus Dystrophy
Macular dystrophy, Abnormal electroretinogram OMIM:136900
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... OMIM:251270
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Patent ductus arteriosus, Retinal dystrophy OMIM:615147
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Pigmentary retinopathy, Cerebellar atrophy OMIM:619090
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Un... OMIM:613750
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Nephronophthisis 15
Retinal degeneration OMIM:614845
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Abnormal electroret... OMIM:613194
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Nephronophthisis 14
Retinal degeneration OMIM:614844
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Congenital Glaucoma
Retinal detachment ORPHA:98976
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Abnormal electror... OMIM:193235
Oguchi Disease
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy ORPHA:75382
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy OMIM:212550
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... OMIM:617406
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Mucolipidosis Iv
Optic atrophy, Retinal degeneration, Cerebellar atrophy OMIM:252650
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atrophy OMIM:616171
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Hsd10 Mitochondrial Disease
Optic atrophy, Cerebral cortical atrophy, Retinal degeneration OMIM:300438
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials OMIM:616648
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Iris hypopigmentation, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:1466
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Scheie Syndrome
Retinal degeneration OMIM:607016
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Ceroid Lipofuscinosis, Neuronal, 10
Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Retinal atrophy, I... OMIM:610127
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Narp Syndrome
Cerebral cortical atrophy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Optic disc pa... ORPHA:644
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Retinitis Pigmentosa 93
Undetectable electroretinogram, Rod-cone dystrophy, Retinal dots OMIM:619845
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Cerebral cortical atrophy, Retinal degeneration... OMIM:604360
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Retinoschisis Of Fovea
Macular dystrophy, Foveoschisis, Abnormal electroretinogram, Rod-cone dystrophy OMIM:268080
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Melanocytic nevus, Freckling, Macular degeneration ORPHA:1573
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy OMIM:602499
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Abnormal reti... ORPHA:1215
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:300029
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Retinal pigment epithelial atrophy, Macular crystals, Mac... OMIM:270200
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia OMIM:613154
Retinitis Pigmentosa 44
Decreased light- and dark-adapted electroretinogram amplitude, Attenuation of retinal blood vesse... OMIM:613769
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Retinitis Pigmentosa 26
Optic disc pallor, Undetectable light- and dark-adapted electroretinogram, Attenuation of retinal... OMIM:608380
Stickler Syndrome Type 2
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... ORPHA:352731
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Choroidal neovascularization, Macular degeneration ORPHA:404451
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Optic Atrophy 1
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials OMIM:165500
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Neovascular Glaucoma
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Retinal detachment, Ab... ORPHA:94058
Cone-Rod Dystrophy 2
Chorioretinal atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial atrophy, Macular hyper... OMIM:120970
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Maternal Uniparental Disomy Of Chromosome 9
Retinal dysplasia ORPHA:96183
Aceruloplasminemia
Retinal degeneration OMIM:604290
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked potentials, Rod-cone... ORPHA:436245
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Retinal degeneration, Brain atrophy, Cerebral atrophy, Attenuation of retinal blood vessels, Geog... OMIM:619260
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:2971
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Brain atrophy, Pigmentary retinopathy OMIM:619059
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Birdshot Chorioretinopathy
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cerebellar atrophy ORPHA:3085
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... ORPHA:79264
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy ORPHA:370968
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment OMIM:157151
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... ORPHA:5
Retinitis Pigmentosa 66
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:615233
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Cerebral atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Late-Onset Retinal Degeneration
Macular degeneration, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atrophy, Fu... ORPHA:67042
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia ORPHA:324416
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:2518
Oculocutaneous Albinism Type 2
Hyperpigmented nevi, Abnormality of retinal pigmentation, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment OMIM:127200
Acute Zonal Occult Outer Retinopathy
Abnormal retinal vascular morphology, Rod-cone dystrophy, Retinal pigment epithelial mottling, Ab... ORPHA:284454
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... OMIM:609033
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... ORPHA:2481
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, Cerebral atrophy, Retinal degeneration, Abn... ORPHA:168491
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Abnormal electroretinogram, Nonarteritic anterior ischem... OMIM:125310
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Hsd10 Disease, Infantile Type
Retinal degeneration, Rod-cone dystrophy, Cerebral atrophy, Neurodegeneration, Optic atrophy, Dif... ORPHA:391428
Ectopia Lentis Et Pupillae
Retinal detachment OMIM:225200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Cerebral cortical atrophy, Pigmentary retinopathy OMIM:613156
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Patent ductus arteriosus ORPHA:290
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration OMIM:619780
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy OMIM:256000
Leber Congenital Amaurosis 14
Rod-cone dystrophy, Retinal dystrophy, Undetectable electroretinogram, Optic disc pallor, Decreas... OMIM:613341
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Optic disc pallor, Abnormality of pattern visual evoked potentials, Undetectable electroretinogram ORPHA:1947
Cone-Rod Dystrophy 6
Chorioretinal atrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atr... OMIM:601777
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:601813
Oculocutaneous Albinism Type 1A
Abnormality of visual evoked potentials, Ocular albinism, Hypoplasia of the fovea, Abnormality of... ORPHA:79431
Coloboma Of Macula
Macular coloboma OMIM:120300
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Brain atrophy, Cerebral atrophy, Retinal degeneration ORPHA:442835
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials OMIM:601152
Åland Islands Eye Disease
Abnormal electroretinogram, Hypoplasia of the fovea, Hypopigmentation of the fundus ORPHA:178333
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cerebral cortical atrophy, Abnormality of pattern visual evoked potentials, Rod-cone dystrophy, R... ORPHA:166035
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Retinal degeneration ORPHA:79244
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... OMIM:616959
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration ORPHA:284289
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Night Blindness, Congenital Stationary, Type 1C
Abnormal electroretinogram, Congenital stationary night blindness OMIM:613216
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Joubert Syndrome 22
Temporal cortical atrophy, Retinal dysplasia OMIM:615665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Vici Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Abnormal macular morphology, Hypo... ORPHA:1493
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials ORPHA:357225
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:300578
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Krabbe Disease
Optic atrophy, Abnormal flash visual evoked potentials OMIM:245200
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:1933
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... ORPHA:2715
Nephronophthisis 11
Retinal degeneration OMIM:613550
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram OMIM:616875
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Micro Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy, Retinal coloboma, Abnormality of ... ORPHA:2510
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials OMIM:125250
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Axonal degeneration, Pigmentary retinopathy, Bone spicule pigmentation of the... ORPHA:88628
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Multiple Sulfatase Deficiency
Cerebral atrophy, Retinal degeneration, Cerebellar atrophy OMIM:272200
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Undetectable visual evoked potentials OMIM:601338
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Frontal cortical atrophy, Abnormality of pattern visual evoked potenti... ORPHA:2822
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials ORPHA:314389
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials ORPHA:702
Peho Syndrome
Optic atrophy, Undetectable visual evoked potentials OMIM:260565
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation ORPHA:585
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration OMIM:239000
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma, Facial palsy OMIM:107550
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Vogt-Koyanagi-Harada Disease
Poliosis, Retinal detachment, Vitiligo, Premature graying of hair, Hypopigmented skin patches ORPHA:3437
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Retinal dystrophy, Undetectable visual evoked potentials, Optic disc pallor, Aplasia/Hypoplasia o... ORPHA:423479
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Cafe-au-lait spot, Retinal degeneration, Rod-cone dystrophy, Hypoautofluorescent retinal lesion OMIM:250410
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Chorioretinal coloboma OMIM:617662
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy ORPHA:168549
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Mohr-Tranebjaerg Syndrome
Optic atrophy, Abnormality of visual evoked potentials ORPHA:52368
Wolfram Syndrome 1
Optic atrophy, Cerebral atrophy, Pigmentary retinopathy OMIM:222300
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Werner Syndrome
Retinal degeneration OMIM:277700
Congenital Muscular Dystrophy, Fukuyama Type
Optic atrophy, Retinal dysplasia ORPHA:272
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials ORPHA:485421
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Optic atrophy, Freckling, Cerebellar... OMIM:610651
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal flash visual evoked potentials ORPHA:98755
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Abnormality of visual evoked potentials OMIM:614457
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm OMIM:615113
Friedreich Ataxia
Optic atrophy, Abnormality of visual evoked potentials OMIM:229300
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials ORPHA:480898
Pantothenate Kinase-Associated Neurodegeneration
Retinal degeneration, Rod-cone dystrophy, Pallidal degeneration, Pigmentary retinopathy, Retinal ... ORPHA:157850
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of visual evoked potentials ORPHA:35069
Pseudoxanthoma Elasticum
Retinal peau d'orange, Macular degeneration, Retinal hemorrhage, Optic disc drusen, Choroidal neo... OMIM:264800
Megalocornea
Retinal detachment, Iris transillumination defect OMIM:309300
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormality of visual evoked potentials OMIM:231550
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Parietal cortical atrophy, Corpus callosum atrophy, Retinal atrophy, Cerebellar atrophy ORPHA:412057
Oligocone Trichromacy
Abnormal electroretinogram ORPHA:75378
Mpdu1-Cdg
Optic atrophy, Undetectable visual evoked potentials ORPHA:79323
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Corpus callosum atrophy, Retinal degeneration, Cerebellar atrophy OMIM:248500
Senior-Loken Syndrome 8
Macular atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:616307
Uveal Melanoma
Vitreous hemorrhage, Retinal detachment, Abnormal fundus morphology ORPHA:39044
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Retinal detachment OMIM:223330
Ruvalcaba Syndrome
Abnormality of visual evoked potentials, Abnormal electroretinogram ORPHA:3121
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Pseudoxanthoma Elasticum, Forme Fruste
Angioid streaks of the fundus, Retinal hemorrhage, Macular degeneration OMIM:177850
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Abnormality of visual evoked potentials ORPHA:309263
Knobloch Syndrome
Macular degeneration, Retinal detachment, Vitreoretinopathy, Patent ductus arteriosus, Abnormal v... ORPHA:1571
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Cerebellar corti... ORPHA:247234
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy OMIM:609015
Neuromuscular Oculoauditory Syndrome
Retinal pigment epithelial mottling, Decreased amplitude of sensory action potentials, Chorioreti... OMIM:618733
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Optic nerve dysplasia OMIM:615287
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Antiphospholipid Syndrome, Familial
Retinal vasculitis, Retinal detachment, Central retinal artery occlusion, Vitritis OMIM:107320
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Bardet-Biedl Syndrome 1
Retinal degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal dystrophy... OMIM:209900
Cln5 Disease
Abnormality of visual evoked potentials ORPHA:228360
Usher Syndrome
Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:886
Spinocerebellar Ataxia Type 7
Cerebral atrophy, Macular degeneration, Cone/cone-rod dystrophy, Cerebellar atrophy, Abnormal fun... ORPHA:94147
Cutis Marmorata Telangiectatica Congenita
Retinal detachment OMIM:219250
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Retinal degeneration, Macular degeneration ORPHA:99
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Neurodegeneration With Brain Iron Accumulation 1
Retinal degeneration, Neurodegeneration, Pigmentary retinopathy, Optic atrophy, Hyperpigmentation... OMIM:234200
Infantile Krabbe Disease
Optic atrophy, Abnormality of visual evoked potentials, Cherry red spot of the macula ORPHA:206436
Warburg Micro Syndrome 2
Optic atrophy, Undetectable visual evoked potentials OMIM:614225
Peroxisome Biogenesis Disorder 5A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia OMIM:214110
White-Sutton Syndrome
Optic nerve hypoplasia, Abnormality of visual evoked potentials, Abnormal electroretinogram, Rod-... OMIM:616364
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation, Neurodegeneration OMIM:309900
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Late-Infantile/Juvenile Krabbe Disease
Abnormality of visual evoked potentials ORPHA:206443
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pigmentary retinopathy ORPHA:502423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Enlarged flash visual evoked potentials, Retinal degeneration, Optic at... OMIM:253280
Maternal Uniparental Disomy Of Chromosome 4
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:96180
Papillorenal Syndrome
Macular degeneration, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, Retinal det... OMIM:120330
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Undetectable visual evoked potentials OMIM:619051
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Norrie Disease
Optic atrophy, Retinal detachment, Retinal dysplasia, Retinal fold OMIM:310600
Van Den Bosch Syndrome
Abnormal electroretinogram, Choroideremia ORPHA:3417
Kniest Dysplasia
Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, Lattice retinal degeneration, ... ORPHA:485
Cancer-Associated Retinopathy
Granular macular appearance, Diffuse cerebellar atrophy, Retinal pigment epithelial atrophy, Opti... ORPHA:71505
Hurler Syndrome
Neurodegeneration, Retinal degeneration OMIM:607014
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Hepatic necrosis, Pigmentary retinopathy ORPHA:71212
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Retinal degeneration, Cerebral atrophy, Abnormality of macular pigmentation, Pigmentary retinopat... ORPHA:79282
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Perifoveal ring of hyperautofluorescence, Vitiligo, Pigmentary retinopathy OMIM:240300
Metachromatic Leukodystrophy, Adult Form
Optic atrophy, Abnormality of visual evoked potentials ORPHA:309271
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Chromosome 6Pter-P24 Deletion Syndrome
Patent ductus arteriosus, Pigmentary retinopathy OMIM:612582
Ramon Syndrome