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Gene: Prpf8 MGI:2179381

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Gene Summary

Name:
pre-mRNA processing factor 8
Synonyms:
DBF3/PRP8,  D11Bwg0410e,  Prp8,  Sfprp8l

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IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Prpf8em1(IMPC)Bay HOM   Early adult 0.00
abnormal embryo size Prpf8em1(IMPC)Bay HET E9.5 0.00
embryonic growth retardation Prpf8em1(IMPC)Bay HET E9.5 0.00

Download data as:  TSV  XLS

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Select physiological systems to view:
Viewing: all phenotypes

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.

Eye Morphology

VIP of left fundus

16 Images

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Eye Morphology

VIP of left eye

16 Images

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Eye Morphology

VIP of right eye

16 Images

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Eye Morphology

VIP of right fundus

16 Images

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Human diseases caused by Prpf8 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 Prpf8 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation ORPHA:791

The table below shows human diseases predicted to be associated to Prpf8 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Choroidal Dystrophy, Central Areolar, 1
Choriocapillaris atrophy, Pigmentary retinopathy, Chorioretinal atrophy OMIM:215500
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, 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
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Macular atrophy, Pigmentary retinopathy, Attenuation of re... OMIM:613830
Macular Degeneration, Age-Related, 13
Macular degeneration, Choroidal neovascularization, Drusen, Macular scar OMIM:615439
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Macular Degeneration, Atrophic, X-Linked
Macular degeneration OMIM:300834
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Exudative Vitreoretinopathy 7
Retinal detachment, Retinal degeneration, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:617572
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Drusen, Peripheral retinal atrophy OMIM:136550
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Retinopathy, Pericentral Pigmentary, Dominant
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:180210
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal detachment, Peripheral cystoid retinal degeneration, Re... OMIM:312700
Retinitis Pigmentosa 31
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:609923
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Retinal degeneration, Retinopathy, Chorioretinal ... OMIM:605670
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Macular Dystrophy, Vitelliform, 2
Subretinal fluid, Macular dystrophy, Cystoid macular degeneration OMIM:153700
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Retinal dysplasia, Abnormality of retinal pigmentation ORPHA:1852
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Hyporeflective spaces on macular OCT, Retinal atrophy, ... ORPHA:59181
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Macular Degeneration, Age-Related, 1
Foveal hypopigmentation, Macular hemorrhage, Macular drusen, Macular degeneration, Geographic atr... OMIM:603075
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Choroideremia
Hypopigmentation of the fundus, Granular macular appearance, Choroideremia, Pigmentary retinopath... OMIM:303100
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Cone-Rod Dystrophy 22
Hyperautofluorescent macular lesion, Perifoveal ring of hyperautofluorescence, Hypoautofluorescen... OMIM:619531
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Cone-Rod Dystrophy 11
Macular atrophy, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:610381
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal atrophy OMIM:615725
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Retinal Cone Dystrophy 1
Retinal degeneration, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:180020
Reticular Dystrophy Of Retinal Pigment Epithelium
Pigmentary retinopathy, Abnormality of retinal pigmentation OMIM:179840
Retinitis Pigmentosa 30
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:607921
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Familial Drusen
Reticular pigmentary degeneration, Macular hemorrhage, Macular atrophy, Peripapillary chorioretin... ORPHA:75376
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613582
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Macular atrophy, Hypopigmentation of the fundus, Foveal photorecepto... ORPHA:75377
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Bone spicule pigmentation of the ret... OMIM:618697
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Abnormal macular morphology, Choroi... ORPHA:97341
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cone-Rod Dystrophy 5
Retinal pigment epithelial mottling, Macular degeneration, Cone/cone-rod dystrophy OMIM:600977
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Retinitis Pigmentosa 13
Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degeneration, Bone spicule ... OMIM:600059
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Rod-cone dystrophy OMIM:613758
Bothnia Retinal Dystrophy
Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mottling, Retinal degene... ORPHA:85128
Usher Syndrome, Type Iv
Retinal degeneration, Hyperautofluorescent macular lesion, Bone spicule pigmentation of the retin... OMIM:618144
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration ORPHA:1243
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... OMIM:620102
Retinitis Pigmentosa 38
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy OMIM:613862
Progressive Bifocal Chorioretinal Atrophy
Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 90
Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of retinal blood vess... OMIM:619007
Retinitis Pigmentosa 88
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... OMIM:618826
Nanophthalmos
Abnormal choroid morphology, Abnormality of retinal pigmentation ORPHA:35612
Wagner Vitreoretinopathy
Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, Exudative ... OMIM:143200
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Retinitis Pigmentosa 54
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 4
Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613731
Retinitis Pigmentosa 62
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:614181
Retinitis Pigmentosa 84
Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retina... OMIM:618220
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Paravenous chorioretinal atrophy, Bone spicule pigmentation of the retina OMIM:172870
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Retinitis Pigmentosa 28
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:606068
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular edema OMIM:180104
Retinitis Pigmentosa 76
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... OMIM:617123
Retinitis Pigmentosa 80
Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels OMIM:617781
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:601718
Retinitis Pigmentosa 86
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:618613
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
Macular atrophy, Cystoid macular degeneration, Retinal degeneration OMIM:267760
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Bone sp... OMIM:614500
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Chorioretinal atrophy, Bone spicule pigment... OMIM:613750
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Macular dystrophy, Drusen, Choroidal neovascul... OMIM:608161
Retinitis Pigmentosa 73
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... OMIM:616544
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 7
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood v... OMIM:608133
Retinal Dystrophy And Obesity
Peripapillary atrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Re... OMIM:616188
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... OMIM:617460
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage OMIM:264420
Retinitis Pigmentosa 69
Pigmentary retinopathy, Perifoveal hypoautofluorescence, Rod-cone dystrophy OMIM:615780
Cone-Rod Dystrophy 21
Macular atrophy, Retinal dystrophy OMIM:616502
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Myopia, High, With Cataract And Vitreoretinal Degeneration
Vitreous floaters, Retinal detachment, Peripheral vitreoretinal degeneration, Lattice retinal deg... OMIM:614292
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Microphthalmia, Isolated 5
Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, ... OMIM:611040
Bietti Crystalline Dystrophy
Retinal pigment epithelial mottling, Pigmentary retinopathy, Cystoid macular edema, Retinal thinn... ORPHA:41751
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Ceroid Lipofuscinosis, Neuronal, 2
Retinal degeneration OMIM:204500
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Vitreoretinal Degeneration, Snowflake Type
Optically empty vitreous, Retinal dots, Retinal detachment, Snowflake vitreoretinal degeneration OMIM:193230
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Retinal pigment epithelial mottling, Rod-cone dystrophy OMIM:551500
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... OMIM:612095
Cone-Rod Dystrophy 15
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy OMIM:613660
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal pigment ep... OMIM:616108
Retinitis Pigmentosa 58
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613617
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Achromatopsia
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Retina... ORPHA:49382
Retinitis Pigmentosa 10
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180105
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal pigmentati... OMIM:251270
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Morning Glory Disc Anomaly
Optic disc coloboma, Retinal detachment, Abnormality of retinal pigmentation ORPHA:35737
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Birdshot Chorioretinopathy
Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal detachment,... ORPHA:179
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... OMIM:608553
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Peripheral retinal atrophy, Retinal pigment epithelial mottling, Retinal thinnin... OMIM:145350
Macular Degeneration, Age-Related, 3
Macular degeneration, Drusen, Choroidal neovascularization OMIM:608895
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... OMIM:613194
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612572
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Ceroid Lipofuscinosis, Neuronal, 3
Macular degeneration, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:204200
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy OMIM:604393
Birdshot Chorioretinopathy
Vitreous floaters, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis OMIM:605808
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613581
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:180100
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood ... OMIM:604116
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Macular coloboma, Choriocapillaris atrophy, Nummular pigmentation of the ... OMIM:613835
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the ... OMIM:618195
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:613756
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Retinitis Pigmentosa 83
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... OMIM:618173
Coloboma Of Macula
Macular coloboma OMIM:120300
Nephronophthisis 15
Retinal degeneration OMIM:614845
Cone-Rod Dystrophy 10
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:610283
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, ... OMIM:204100
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Retinal atrophy, Cone/cone-rod dystrophy, Hyperautofluorescent macular l... OMIM:617406
Bardet-Biedl Syndrome 4
Rod-cone dystrophy, Retinal degeneration OMIM:615982
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
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Macular degeneration, Abnormality of retinal pigmentation, Retinal arter... OMIM:605549
Ceroid Lipofuscinosis, Neuronal, 1
Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Morm Syndrome
Retinal dystrophy, Retinal atrophy ORPHA:75858
Congenital Stationary Night Blindness
Congenital stationary night blindness with abnormal fundus, Congenital stationary night blindness... ORPHA:215
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:600105
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613810
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinitis Pigmentosa 2
Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Chorioretinal... OMIM:312600
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Iris hypopigmentation, Optic nerve misrouting, Albinism, Abnormality of ... ORPHA:79435
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Rod-cone dystrophy, Congenital stationary night blindness ORPHA:75382
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:613983
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Retinitis Pigmentosa 25
Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:602772
Retinitis Punctata Albescens
Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Cy... ORPHA:52427
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Peripheral retinal atrophy, Retinal dystrophy OMIM:615147
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... ORPHA:364055
Retinitis Pigmentosa 51
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of... OMIM:613464
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation ORPHA:2196
Jalili Syndrome
Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,... OMIM:217080
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Exudative Vitreoretinopathy 6
Retinal exudate, Retinal detachment, Tractional retinal detachment, Patchy atrophy of the retinal... OMIM:616468
Retinitis Pigmentosa 23
Absent foveal reflex, Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment e... OMIM:300424
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Heimler Syndrome 1
Retinal pigment epithelial mottling, Macular dystrophy OMIM:234580
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... ORPHA:67042
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Macular hyperpigmentation, Bone spicule pigmentation of the retina, Reti... OMIM:120970
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Macular dots, Macular crystals, Retinal pigment epithelia... OMIM:270200
Retinitis Pigmentosa 3
Perifoveal hypoautofluorescence, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:300029
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Ceroid Lipofuscinosis, Neuronal, 5
Retinal degeneration OMIM:256731
Leber Congenital Amaurosis 1
Optic disc drusen, Pigmentary retinopathy, Fundus atrophy, Attenuation of retinal blood vessels OMIM:204000
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation... OMIM:600132
Poretti-Boltshauser Syndrome
Retinal dystrophy, Retinal thinning, Retinal atrophy OMIM:615960
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Oculocutaneous Albinism Type 2
Blue irides, Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Optic nerve misrouting, I... ORPHA:79432
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels... OMIM:615986
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Retinal atrophy OMIM:617236
Enhanced S-Cone Syndrome
Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema OMIM:268100
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... OMIM:616469
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Freckling, Macular degeneration, Melanocytic nevus ORPHA:1573
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Retinal Cone Dystrophy 3B
Macular atrophy, Cone/cone-rod dystrophy OMIM:610356
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Retinal exudate, Retinal detachment, Ecto... OMIM:133780
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Freckling, Iris hypopigmentation, Albinism, Abnormality of retinal pigme... ORPHA:79434
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:617023
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Macular drusen, Abnormal retinal vascular morphology, Pi... ORPHA:284454
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Leber Congenital Amaurosis
Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Retinitis Pigmentosa 66
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:615233
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Retinitis Pigmentosa 37
Pigmentary retinopathy, Rod-cone dystrophy, Cystoid macular degeneration OMIM:611131
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Heterochromia iridis, Abnormality of retinal pigmentation ORPHA:1390
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pigmentary retinopathy, Retinal detachment, Retinal ar... OMIM:193220
Bardet-Biedl Syndrome 17
Macular atrophy, Cone/cone-rod dystrophy, Retinal degeneration, Bone spicule pigmentation of the ... OMIM:615994
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617547
Spastic Paraplegia 11, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:604360
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Waardenburg-Shah Syndrome
Abnormal macular morphology, Premature graying of hair, Abnormality of retinal pigmentation, Whit... ORPHA:897
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Retinal degeneration, Macular coloboma, Attenuation of retina... OMIM:619260
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Cone-Rod Dystrophy 6
Macular atrophy, Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:601777
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Scheie Syndrome
Retinal degeneration OMIM:607016
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:257270
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation ORPHA:791
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization ORPHA:404451
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Retinitis Pigmentosa And Erythrocytic Microcytosis
Retinal atrophy, Epiretinal membrane, Optic disc pallor, Retinal pigment epithelial atrophy, Phot... OMIM:616959
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Ceroid Lipofuscinosis, Neuronal, 10
Rod-cone dystrophy, Retinal atrophy OMIM:610127
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration ORPHA:79264
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Leber Congenital Amaurosis 15
Peripapillary atrophy, Dull foveal reflex, Pigmentary retinopathy, Optic disc pallor, Retinal deg... OMIM:613843
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy OMIM:616562
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal dystrophy, Retinal atrophy ORPHA:370022
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Retinopathy, Chorioretinal atrophy, Abnormality of retinal pig... ORPHA:5
Juvenile Paget Disease
Optic atrophy, Melanocytic nevus, Abnormality of retinal pigmentation ORPHA:2801
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Retinal degeneration OMIM:270700
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Retinal detachment, Chorioretinal coloboma, Retinal dystrophy OMIM:212550
Aceruloplasminemia
Retinal degeneration OMIM:604290
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Optic disc hypoplasia, Retinal pigment epithelia... ORPHA:448237
Posterior Column Ataxia With Retinitis Pigmentosa
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Attenuation of retinal blood ves... OMIM:609033
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration OMIM:266500
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:615434
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Yellow/white lesions of the retina, Retinal flecks ORPHA:100996
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Leigh Syndrome With Leukodystrophy
Pigmentary retinopathy, Optic atrophy ORPHA:255241
Hsd10 Disease, Infantile Type
Optic atrophy, Rod-cone dystrophy, Retinal degeneration ORPHA:391428
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Neurocutaneous Melanocytosis
Numerous congenital melanocytic nevi, Abnormality of retinal pigmentation, Chorioretinal coloboma... ORPHA:2481
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Retinal degeneration ORPHA:442835
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Arthrogryposis, Distal, Type 5
Retinal fold, Abnormality of retinal pigmentation OMIM:108145
Joubert Syndrome 6
Chorioretinal coloboma, Retinal degeneration OMIM:610688
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Chromosome Xp11.3 Deletion Syndrome
Pigmentary retinopathy, Optic atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:300578
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Paget Disease Of Bone 5, Juvenile-Onset
Retinopathy, Retinal degeneration, Angioid streaks of the fundus, Macular scar OMIM:239000
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Macular atrophy, Chorioretinal coloboma OMIM:602499
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:268315
Classic Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy ORPHA:216866
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Rod-cone dystrophy, Patchy atrophy of the retinal pigment epithelium ORPHA:436245
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Peripheral retinal degeneration, Rod-cone dystrophy, Retinal dystrophy ORPHA:168549
Cln3 Disease
Pigmentary retinopathy, Bull's eye maculopathy, Optic atrophy ORPHA:228346
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Leigh Syndrome
Pigmentary retinopathy, Optic atrophy OMIM:256000
Vici Syndrome
Hypopigmentation of the skin, Optic atrophy, Abnormal macular morphology, Abnormality of retinal ... ORPHA:1493
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Optic atrophy, Abnormality of retinal pigmentation, Hypopig... ORPHA:2715
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration OMIM:615249
Pseudoxanthoma Elasticum
Retinal peau d'orange, Macular degeneration, Choroidal neovascularization, Angioid streaks of the... OMIM:264800
Congenital Rubella Syndrome
Abnormality of retinal pigmentation ORPHA:290
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cafe-au-lait spot, Rod-cone dystrophy, Retinal degeneration ORPHA:166035
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Pantothenate Kinase-Associated Neurodegeneration
Pigmentary retinopathy, Bull's eye maculopathy, Retinal degeneration, Optic atrophy, Rod-cone dys... ORPHA:157850
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Cafe-au-lait spot, Hypoautofluorescent retinal lesion, Rod-cone dystrophy, Retinal degeneration OMIM:250410
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Retinal atrophy, Cone/cone-rod dystrophy, Retinal thinning, Abnormality of retin... ORPHA:85167
Nephronophthisis 11
Retinal degeneration OMIM:613550
Joubert Syndrome 8
Pigmentary retinopathy, Optic disc pallor OMIM:612291
Late Infantile Neuronal Ceroid Lipofuscinosis
Retinal degeneration ORPHA:168491
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Rod-cone dystrophy ORPHA:88628
Pyruvate Dehydrogenase E2 Deficiency
Retinal degeneration ORPHA:79244
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Senior-Loken Syndrome 8
Macular atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:616307
Autosomal Dominant Cerebellar Ataxia
Pigmentary retinopathy, Macular degeneration, Retinal degeneration ORPHA:99
Bardet-Biedl Syndrome 1
Hyperautofluorescent macular lesion, Retinal degeneration, Bone spicule pigmentation of the retin... OMIM:209900
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Mottled pigmentation of photoexposed areas OMIM:560000
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Papillorenal Syndrome
Morning glory anomaly, Macular degeneration, Retinal detachment, Macular hyperpigmentation, Retin... OMIM:120330
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Retinal atrophy ORPHA:412057
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Multiple Sulfatase Deficiency
Retinal degeneration OMIM:272200
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Retinal pigment epithelial mottling OMIM:617102
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Retinal pigment epithelial mottling OMIM:614105
Pseudoxanthoma Elasticum, Forme Fruste
Macular degeneration, Angioid streaks of the fundus, Retinal hemorrhage OMIM:177850
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Cohen Syndrome
Chorioretinal dystrophy, Optic atrophy, Bone spicule pigmentation of the retina, Bull's eye macul... OMIM:216550
Werner Syndrome
Retinal degeneration OMIM:277700
Micro Syndrome
Optic atrophy, Retinal coloboma, Abnormality of retinal pigmentation ORPHA:2510
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Wolfram Syndrome 1
Pigmentary retinopathy, Optic atrophy OMIM:222300
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation ORPHA:585
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Retinal degeneration, Abnormality of macular pigmentation, Macular colobo... ORPHA:79282
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Mannosidosis, Alpha B, Lysosomal
Retinal degeneration OMIM:248500
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Pigmentary retinopathy, Optic disc pallor, Optic atrophy OMIM:617282
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Melanocytic nevus, Generalized ... ORPHA:1969
Kniest Dysplasia
Rhegmatogenous retinal detachment, Vitreoretinopathy, Retinal detachment, Degenerative vitreoreti... ORPHA:485
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Optic atrophy, Retinal dysplasia OMIM:613154
Cancer-Associated Retinopathy
Granular macular appearance, Retinal atrophy, Optic disc pallor, Vitritis, Retinal pigment epithe... ORPHA:71505
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Pigmentary retinopathy OMIM:600462
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Xeroderma Pigmentosum, Complementation Group B
Pigmentary retinopathy, Freckling, Optic atrophy OMIM:610651
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia OMIM:214110
Hurler Syndrome
Retinal degeneration OMIM:607014
Trichothiodystrophy
Macular degeneration, Numerous pigmented freckles, Retinal degeneration ORPHA:33364
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Autosomal Recessive Spastic Paraplegia Type 11
Retinal degeneration ORPHA:2822
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal atrophy, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Optic atrophy OMIM:236670
Mucopolysaccharidosis Type 3
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration ORPHA:581
Knobloch Syndrome
Vitreoretinopathy, Macular degeneration, Retinal detachment, Abnormal vitreous humor morphology ORPHA:1571
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy OMIM:612582
Cockayne Syndrome Type 3
Retinal hemorrhage, Retinal atrophy, Premature graying of hair, Optic disc pallor, Retinal degene... ORPHA:90324
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Cockayne Syndrome
Retinal hemorrhage, Retinal atrophy, Pigmentary retinopathy, Optic disc pallor, Retinal degenerat... ORPHA:191
Werner Syndrome
White forelock, Premature graying of hair, Abnormality of retinal pigmentation ORPHA:902
Cohen Syndrome
Chorioretinal dystrophy, Optic atrophy, Abnormality of skin pigmentation, Abnormality of retinal ... ORPHA:193
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:192
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Chorioretinal dysplasia, Retinal detachment, Retinopathy, Abnormality of retinal pigmentation, Re... ORPHA:2526
Mucopolysaccharidosis Type 2
Papilledema, Abnormality of retinal pigmentation, Retinal degeneration, Abnormal foveal morpholog... ORPHA:580
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Pigmentary retinopathy, Optic atrophy ORPHA:436271
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Retinal degeneration, Hypoplasia of the retina, Retinal dysplasia, Optic atrophy OMIM:253280
Mitochondrial Trifunctional Protein Deficiency 1
Pigmentary retinopathy OMIM:609015
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Pigmentary retinopathy, Perifoveal ring of hyperautofluorescence OMIM:240300
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Chorioretinal coloboma, Optic disc colob... ORPHA:50
Neurodegeneration With Brain Iron Accumulation 1
Hyperpigmentation of the skin, Pigmentary retinopathy, Optic atrophy, Retinal degeneration OMIM:234200
Maternal Uniparental Disomy Of Chromosome 4
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:96180
Retinoblastoma
Subretinal pigment epithelium hemorrhage, Retinal calcification, Abnormality of retinal pigmentat... ORPHA:790
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Pigmentary retinopathy, Optic disc pallor ORPHA:502423
Spinocerebellar Ataxia Type 7
Abnormal fundus morphology, Macular degeneration, Cone/cone-rod dystrophy ORPHA:94147
Neuromuscular Oculoauditory Syndrome
Chorioretinal lacunae, Retinal pigment epithelial mottling OMIM:618733
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:220110
Usher Syndrome
Abnormality of retinal pigmentation ORPHA:886
Alstrom Syndrome
Pigmentary retinopathy, Cone/cone-rod dystrophy OMIM:203800
Myopathy, Mitochondrial, And Ataxia
Pigmentary retinopathy OMIM:617675
Classic Homocystinuria
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation ORPHA:394
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Retinal degeneration OMIM:208500
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Macular degeneration ORPHA:247234
Farber Disease
Cherry red spot of the macula, Macular degeneration ORPHA:333
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration OMIM:618479
Cockayne Syndrome A
Retinal atrophy, Retinal pigment epithelial mottling, Pigmentary retinopathy, Optic atrophy, Abno... OMIM:216400
Peroxisome Biogenesis Disorder 1A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic disc pallor OMIM:214100
Mitochondrial Trifunctional Protein Deficiency
Pigmentary retinopathy ORPHA:746
Cockayne Syndrome Type 1
Hypermelanotic macule, Pigmentary retinopathy, Optic atrophy ORPHA:90321
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Pigmentary retinopathy, Optic nerve dysplasia, Optic atrophy, Rod-cone dystrophy OMIM:614866
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy ORPHA:71212
Microphthalmia With Linear Skin Defects Syndrome
Chorioretinal dysplasia, Hypopigmented skin patches, Abnormality of retinal pigmentation, Vitriti... ORPHA:2556
Chédiak-Higashi Syndrome
Iris hypopigmentation, Spotty hyperpigmentation, Large clumps of pigment irregularly distributed ... ORPHA:167
Chromosome 8Q21.11 Deletion Syndrome
Pigmentary retinopathy OMIM:614230
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Optic atrophy, Abnormality of retinal pigmentation ORPHA:505248
Abetalipoproteinemia
Hypopigmentation of the fundus, Rod-cone dystrophy, Abnormality of retinal pigmentation ORPHA:14
Alport Syndrome
Macular degeneration, Retinal flecks ORPHA:63
Trisomy 18
Abnormality of retinal pigmentation ORPHA:3380
Atypical Werner Syndrome
Premature graying of hair, Patchy hypo- and hyperpigmentation, Abnormality of retinal pigmentatio... ORPHA:79474
Bohring-Opitz Syndrome
Optic atrophy, Retinal atrophy ORPHA:97297
Melas
Pigmentary retinopathy, Vitiligo, Optic atrophy ORPHA:550
Ramon Syndrome
Pigmentary retinopathy, Optic disc pallor OMIM:266270
Say-Barber-Miller Syndrome
Macular degeneration, Rod-cone dystrophy, Optic atrophy ORPHA:3132
Osteopetrosis With Renal Tubular Acidosis
Optic atrophy, Abnormal retinal morphology, Retinal atrophy ORPHA:2785
Cartilage-Hair Hypoplasia
Abnormality of retinal pigmentation ORPHA:175
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormality of retinal pigmentation ORPHA:466768
Neurofibromatosis Type 1
Freckling, Hypopigmented skin patches, Abnormality of retinal pigmentation, Multiple cafe-au-lait... ORPHA:636
Mitochondrial Dna-Associated Leigh Syndrome
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy ORPHA:255210
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinopathy, Optic ... ORPHA:217085
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Pigmentary retinopathy OMIM:277400
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Abnormality of retinal pigmentation, Abnormal foveal morphology, Retinopathy, Optic ... ORPHA:217093
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Macular degeneration, Fair hair, Attenuation of retinal blood vessels, Rod-cone dystrophy, Retina... OMIM:266920
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Retinal pigment epithelial mottling OMIM:607459
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Pigmentary retinopathy, Optic disc pallor, Optic atrophy, Cone/cone-rod dystrophy ORPHA:404454
Nijmegen Breakage Syndrome
Progressive vitiligo, Retinal pigment epithelial mottling, Cafe-au-lait spot OMIM:251260
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Choroidal neovascularization, Cystoid macular edema, Chorioretinal scar, Abnormality... ORPHA:91500
Khan-Khan-Katsanis Syndrome
Pigmentary retinopathy OMIM:618460
Infantile Nephropathic Cystinosis
Pigmentary retinopathy ORPHA:411629
Spondylocarpotarsal Synostosis Syndrome
Abnormality of retinal pigmentation OMIM:272460
Proteus Syndrome
Irregular hyperpigmentation, Central heterochromia, Abnormality of retinal pigmentation, Multiple... ORPHA:744
Cystinosis, Nephropathic
Pigmentary retinopathy, Retinal pigment epithelial mottling, Hypopigmentation of the skin, Hypopi... OMIM:219800
Cockayne Syndrome B
Pigmentary retinopathy, Optic atrophy, Abnormality of skin pigmentation OMIM:133540
Linear Skin Defects With Multiple Congenital Anomalies 1
Pigmentary retinopathy OMIM:309801
Pearson Syndrome
Hyperpigmentation of the skin, Pigmentary retinopathy, Cafe-au-lait spot ORPHA:699
Alagille Syndrome 1
Pigmentary retinopathy, Chorioretinal atrophy OMIM:118450
Hardikar Syndrome
Pigmentary retinopathy OMIM:301068
Lipodystrophy, Familial Partial, Type 7
Pigmentary retinopathy OMIM:606721
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, Drusen, Retinal d... 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 Prpf8

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 Prpf8.

No publications found that use IMPC mice or data for Prpf8.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Prpf8em1(IMPC)Bay Exon Deletion Mice
Prpf8tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prpf8tm2a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Prpf8tm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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