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Gene: 1700001O22Rik MGI:1923631

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Gene Summary

Name:
RIKEN cDNA 1700001O22 gene
Synonyms:
N/A

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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
abnormal lens morphology 1700001O22Rikem1(IMPC)J HOM Late adult 2.97×10-05
fused cornea and lens 1700001O22Rikem1(IMPC)J HOM   Late adult 3.28×10-06
abnormal retina blood vessel morphology 1700001O22Rikem1(IMPC)J HOM   Late adult 3.28×10-06
iris synechia 1700001O22Rikem1(IMPC)J HOM   Late adult 5.95×10-06
abnormal optic disk morphology 1700001O22Rikem1(IMPC)J HOM   Late adult 8.63×10-06
abnormal retina vasculature morphology 1700001O22Rikem1(IMPC)J HOM   Late adult 3.28×10-06
abnormal vitreous body morphology 1700001O22Rikem1(IMPC)J HOM   Late adult 3.28×10-06
persistence of hyaloid vascular system 1700001O22Rikem1(IMPC)J HOM   Late adult 4.19×10-05
cataract 1700001O22Rikem1(IMPC)J HOM   Late adult 2.92×10-05

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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.

X-ray

XRay Images Forepaw

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X-ray

XRay Images Skull Lateral Orientation

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X-ray

XRay Images Whole Body Lateral Orientation

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XRay Images Skull Dorso Ventral Orientation

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XRay Images Whole Body Dorso Ventral

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by 1700001O22Rik 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to 1700001O22Rik by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Retinal atrophy, Iris coloboma, Developmental cataract OMIM:616722
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment, Cataract OMIM:147610
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Retinitis Pigmentosa 42
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Peripapillary atrophy, Cystoid macu... OMIM:612943
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Cataract, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Retinal dystrophy, Microcornea, Posterior lenticonus, Ch... ORPHA:231736
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio OMIM:617272
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Auditory Neuropathy And Optic Atrophy
Rod-cone dystrophy, Optic atrophy OMIM:617717
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Be... OMIM:614500
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Deep anterior chamber, Mosaic corneal dystrophy, Iris... OMIM:309300
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Reti... ORPHA:263479
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Optic Atrophy 2
Optic atrophy OMIM:311050
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Developmental cataract OMIM:246000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Remnants of the hyaloid vascular system, Corneal opacity, Leukocoria, Uveitis, Retinal ... OMIM:221900
Intermediate Uveitis
Anterior uveitis, Cataract, Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, ... ORPHA:279914
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Retinal dystrophy, Cataract OMIM:615995
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:611040
Optic Atrophy 9
Optic disc pallor, Optic atrophy OMIM:616289
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Cataract, Pigmentary retinopathy, Rod-c... OMIM:613731
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Subcapsular cataract, Optic disc drusen, Perifoveal ring... OMIM:600059
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Macular atrophy, Attenuation of retinal ... OMIM:604393
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e... ORPHA:1473
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Cataract 42
Cataract, Developmental cataract OMIM:115900
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal dots, Peripapi... OMIM:616188
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Cataract ORPHA:35737
Nathalie Syndrome
Cataract ORPHA:2663
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Retinitis Pigmentosa 71
Optic disc pallor, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-cone dystroph... OMIM:616394
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma OMIM:616428
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Posterior embryotoxon, Cataract, Morning glory anoma... OMIM:612109
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Retinal vein occlusion, Pigmen... OMIM:177650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Trichomegaly
Cataract OMIM:190330
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, C... OMIM:616108
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Po... ORPHA:280921
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom... OMIM:120200
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy OMIM:618511
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Cerulean cataract OMIM:616732
Leber Congenital Amaurosis 16
Optic disc pallor, Cataract OMIM:614186
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Optic atrophy, Peripheral retinal degeneration OMIM:609021
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Absent foveal reflex, Astigmatism... OMIM:300476
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul... OMIM:618195
Ceroid Lipofuscinosis, Neuronal, 9
Rod-cone dystrophy, Optic atrophy OMIM:609055
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy, Cataract OMIM:614284
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Microphthalmia, Isolated, With Coloboma 7
Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Rod-cone dystrophy, Cataract OMIM:619082
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma OMIM:604219
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Co... ORPHA:2334
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Spastic Paraplegia 74, Autosomal Recessive
Peripheral axonal neuropathy, Optic atrophy OMIM:616451
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Galactosemia Iv
Cataract OMIM:618881
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Leber Congenital Amaurosis 6
Keratoconus, Cataract, Attenuation of retinal blood vessels OMIM:613826
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Optic atrophy, Macular degeneration, Rod-cone dystrophy, Retinal degeneration OMIM:204200
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Large hyperpigmented retinal spots, Uv... OMIM:193235
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Rod-cone dyst... OMIM:614181
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Cataract, Patchy atrophy of the retinal pigmen... OMIM:616468
Sympathetic Ophthalmia
Retinal detachment, Papilledema, Cataract, Vitreous floaters, Vitritis, Retinal hemorrhage, Macul... ORPHA:79098
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy OMIM:615043
Spastic Paraplegia 57, Autosomal Recessive
Optic atrophy OMIM:615658
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Retinopathy OMIM:616171
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... OMIM:204000
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Posterior vitreous detachment, Exudative vitreoretinopathy, ... OMIM:601813
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Retin... OMIM:600132
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Pigme... OMIM:613810
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior synechiae of the anterio... OMIM:613154
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Attenuation of retinal... OMIM:613194
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Perip... OMIM:616469
Juvenile Glaucoma
Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion... ORPHA:98977
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Macular edema, Macul... OMIM:600138
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Sensory axonal neuropathy, Cataract ORPHA:329314
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Galactosemia Ii
Cataract OMIM:230200
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:601706
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613983
Cone-Rod Dystrophy 17
Cone/cone-rod dystrophy, Optic disc pallor OMIM:615163
Macrophthalmia, Colobomatous, With Microcornea
Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior... OMIM:602499
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma OMIM:615147
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Rod-cone dystrophy, Retinal coloboma, Cataract OMIM:601794
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Macular atrophy, Rod-cone dystrophy OMIM:613862
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-c... OMIM:615233
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Optic disc pallor, Rod-cone dystrophy OMIM:616389
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Optic atrophy OMIM:614296
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Rod-cone dystrophy, Retinal coloboma, Cataract ORPHA:363741
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Retinal dystrophy OMIM:610156
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Optic Atrophy 12
Optic disc pallor, Optic atrophy OMIM:618977
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Macular edema, Retinal exudate, Tractional ... ORPHA:209943
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Ocular anterior segment dysgenesis, Retinal dysplasia, Coloboma, Developmental cataract ORPHA:324416
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... OMIM:617087
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Wildervanck Syndrome
Lens subluxation, Pseudopapilledema, Facial palsy ORPHA:3456
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:601718
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Chromosome 16Q12 Duplication Syndrome
Temporal optic disc pallor, Retinal pigment epithelial mottling, Cataract, Anisocoria OMIM:619649
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Posterior subcapsular cataract, Rod-cone dystrophy, Macular atrophy OMIM:615434
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Optic Atrophy 6
Optic atrophy OMIM:258500
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Ge... OMIM:616544
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic disc pallor, Optic atrophy OMIM:182830
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Retinal thinning, Hyperautofluorescent macular lesion, P... OMIM:617123
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis ORPHA:1259
Nathalie Syndrome
Cataract OMIM:255990
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Mucolipidosis Iv
Opacification of the corneal stroma, Optic atrophy, Retinal degeneration, Corneal opacity OMIM:252650
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Autosomal Recessive Spastic Paraplegia Type 45
Optic atrophy ORPHA:320396
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Macular atrophy, Attenuation of retin... OMIM:617460
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Optic atrophy OMIM:611726
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Infantile Spasms-Broad Thumbs Syndrome
Optic disc pallor, Cataract ORPHA:3173
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Enhanced S-Cone Syndrome
Cataract, Macular edema, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Subcapsular cat... OMIM:612674
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy, Astigmatism, Cataract ORPHA:250984
Infantile-Onset Spinocerebellar Ataxia
Abnormality of the autonomic nervous system, Optic atrophy ORPHA:1186
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia, Iris coloboma ORPHA:2185
2Q24 Microdeletion Syndrome
Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Peripheral axonal neuropathy, Optic disc pallor OMIM:619389
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Cofs Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:1466
Camos Syndrome
Optic atrophy ORPHA:83472
Retinitis Pigmentosa
Keratoconus, Abnormality of retinal pigmentation, Cataract, Abnormal retinal vascular morphology,... ORPHA:791
Leber Hereditary Optic Neuropathy
Retinal vascular tortuosity, Optic atrophy, Retinal telangiectasia ORPHA:104
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Usher Syndrome, Type 1M
Drusen, Optic disc pallor OMIM:618632
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Retinitis Pigmentosa 23
Retinal pigment epithelial atrophy, Posterior subcapsular cataract, Absent foveal reflex, Rod-con... OMIM:300424
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Iris coloboma, Chorioretinal coloboma ORPHA:2921
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:180100
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Cataract 47
Microcornea, Cataract OMIM:612018
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Optic disc pallor, Perifoveal ring of hyperautofluorescence, Bull's eye maculo... OMIM:616170
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy OMIM:618768
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My... OMIM:152950
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Cataract OMIM:614307
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Rod-cone dystrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Optic disc pallor, Cataract OMIM:613730
Gyrate Atrophy Of Choroid And Retina
Cataract, Chorioretinal degeneration, Chorioretinal hyperpigmentation, Chorioretinal atrophy, Sub... ORPHA:414
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:609260
Striatonigral Degeneration, Infantile
Optic atrophy OMIM:271930
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Merrf
Optic atrophy ORPHA:551
Aniridia 3
Aniridia, Cataract OMIM:617142
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Cataract, Optic nerve hypoplasia OMIM:615181
Stickler Syndrome, Type Ii
Retinal detachment, Cataract, Abnormal vitreous humor morphology OMIM:604841
Pierson Syndrome
Retinal detachment, Rieger anomaly, Cataract, Remnants of the hyaloid vascular system, Hypoplasia... OMIM:609049
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Chromosome Xp11.3 Deletion Syndrome
Cataract, Posterior subcapsular cataract, Optic atrophy, Pigmentary retinopathy, Rod-cone dystrop... OMIM:300578
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation, Juvenile cataract ORPHA:1264
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Retinal thinning, Asteroid hyalosis OMIM:132450
X-Linked Intellectual Disability, Najm Type
Cataract, Optic atrophy, Optic nerve hypoplasia, Chorioretinal coloboma ORPHA:163937
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Retinal dystrophy, Developmental cataract OMIM:613763
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Cataract, Astigmatism, Rod-cone dystrophy, Retinal degen... OMIM:615986
Stickler Syndrome Type 1
Retinal detachment, Cataract, Abnormal vitreous humor morphology ORPHA:90653
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:600105
Optic Atrophy 5
Optic disc pallor, Optic atrophy OMIM:610708
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Attenuation of retinal blood vessels OMIM:617082
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Optic atrophy, Rod-cone dys... OMIM:268315
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Optic atrophy, Retinal dysplasia ORPHA:272
Leukodystrophy, Hypomyelinating, 22
Optic disc pallor, Astigmatism OMIM:619328
Maternally-Inherited Diabetes And Deafness
Retinopathy, Macular dystrophy, Cataract, Abnormal chorioretinal morphology ORPHA:225
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Cataract, O... OMIM:609033
Nance-Horan Syndrome
Microcornea, Retinal detachment, Cataract ORPHA:627
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Oculo-Palato-Cerebral Syndrome
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria ORPHA:2714
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic disc pallor, Optic atrophy OMIM:618776
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:44
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Achondrogenesis Type 2
Retinal detachment, Lens subluxation, Abnormal vitreous humor morphology, Cataract ORPHA:93296
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy OMIM:619303
Leukoencephalopathy With Vanishing White Matter 4
Optic atrophy OMIM:620314
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Flynn-Aird Syndrome
Rod-cone dystrophy, Cataract OMIM:136300
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Pigmentary retinopathy, Nuclear cataract, Cystoid macular degener... OMIM:611131
Cerebellar Ataxia-Areflexia-Pes Cavus-Optic Atrophy-Sensorineural Hearing Loss Syndrome
Optic atrophy ORPHA:1171
Triple A Syndrome
Optic atrophy, Iris coloboma, Motor axonal neuropathy ORPHA:869
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma OMIM:610125
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Vogt-Koyanagi-Harada Disease
Retinal detachment, Cataract ORPHA:3437
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Abnormality of macular pigmentation, Abno... ORPHA:97229
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Retinopathy, Iris coloboma, Aplasia/Hypoplasia of the fovea ORPHA:2611
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Peripheral axonal neuropathy, Optic atrophy OMIM:617207
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy OMIM:617481
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination, Abn... ORPHA:101082
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Optic atrophy, Facial palsy ORPHA:178377
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy OMIM:619527
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:613617
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Abnormality of retinal pigmentation, Cataract, Choroidal neovascularization, Nongran... ORPHA:91500
Proximal Myotonic Myopathy
Cataract ORPHA:606
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Peripheral axonal neuropathy, Optic atrophy OMIM:620221
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Optic atrophy, Coloboma, Rod-cone dystrophy ORPHA:324737
Prune1-Related Neurological Syndrome
Retinopathy, Cataract, Optic atrophy ORPHA:544469
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Pellagra-Like Syndrome
Cataract OMIM:260650
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration, Cataract OMIM:619780
Infantile Refsum Disease
Rod-cone dystrophy, Optic atrophy, Facial palsy, Cataract ORPHA:772
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea OMIM:251750
Early-Onset X-Linked Optic Atrophy
Decreased nerve conduction velocity, Optic disc pallor, Optic atrophy ORPHA:98890
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:616680
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina OMIM:615973
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 2
Optic disc pallor, Optic atrophy OMIM:617086
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy OMIM:258501
Craniodiaphyseal Dysplasia
Optic atrophy ORPHA:1513
Harel-Yoon Syndrome
Peripheral axonal neuropathy, Optic atrophy, Developmental cataract, Corneal opacity OMIM:617183
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Congenital Varicella Syndrome
Cataract ORPHA:291
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,... ORPHA:370959
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Peripheral axonal neuropathy, Optic atrophy OMIM:619425
Microphthalmia With Brain And Digit Anomalies
Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma ORPHA:139471
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Coloboma OMIM:613153
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Cataract, Macular coloboma, Abnormal auditory evoked potentials, Macular atrop... OMIM:619260
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Warburg Micro Syndrome 1
Microcornea, Optic atrophy, Developmental cataract OMIM:600118
Joubert Syndrome 9
Cataract, Retinal dystrophy, Astigmatism OMIM:612285
Cataract 48
Cataract OMIM:618415
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Retinal vascular tortuosity, Abnormal optic disc morphology, Vitreoretinopathy ORPHA:440727
Muscle-Eye-Brain Disease
Cataract, Optic atrophy ORPHA:588
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration, Cataract, Tortuosity of conjunctival vessels ORPHA:284289
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Myopic astigmatism, Absent foveal reflex, Peripapillar... OMIM:216900
Leber Congenital Amaurosis 15
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Peripapillary atrophy,... OMIM:613843
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Optic atrophy OMIM:612989
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Re... OMIM:614643
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy ORPHA:496790
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity ORPHA:290
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Otodental Syndrome
Cataract, Lens coloboma, Microcornea, Retinal coloboma, Iris coloboma ORPHA:2791
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Iris hypopigmentation ORPHA:85194
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment, Cataract ORPHA:1856
Sclerosteosis
Optic atrophy, Facial palsy ORPHA:3152
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy ORPHA:1914
Congenital Disorder Of Glycosylation, Type Iq
Coloboma, Cataract, Optic atrophy OMIM:612379
Autosomal Recessive Spastic Paraplegia Type 75
Temporal optic disc pallor, Astigmatism ORPHA:459056
Cln3 Disease
Pigmentary retinopathy, Cataract, Optic atrophy, Bull's eye maculopathy ORPHA:228346
4H Leukodystrophy
Cataract, Optic atrophy ORPHA:289494
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Astigmatism, Abnormal auditory evoked potentials OMIM:617523
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Abnormal retinal vascular mor... ORPHA:3205
Optic Atrophy 8
Optic atrophy, Prolonged somatosensory evoked potentials, Abnormal auditory evoked potentials OMIM:616648
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cataract OMIM:619851
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Refsum Disease, Classic
Rod-cone dystrophy, Retinal degeneration, Cataract OMIM:266500
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Null Syndrome
Decreased nerve conduction velocity, Optic atrophy, Peripheral demyelination, Abnormality of peri... ORPHA:280234
Peroxisome Biogenesis Disorder 8B
Optic atrophy, Retinal dystrophy, Peripheral demyelination, Cataract OMIM:614877
Intellectual Developmental Disorder, Autosomal Dominant 70
Retinal detachment, Cataract, Optic nerve hypoplasia, Retinal telangiectasia OMIM:620157
Walker-Warburg Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Chorioretinal dysplasia, Corneal opacity, Optic ... ORPHA:899
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Abnormality of per... ORPHA:585
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Amaurosis-Hypertrichosis Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal dystrophy ORPHA:1021
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Optic atrophy, Abnormal peripheral action potential amplitud... ORPHA:457205
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:2715
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Leber Optic Atrophy And Dystonia
Optic atrophy, Leber optic atrophy OMIM:500001
Spastic Ataxia 4, Autosomal Recessive
Optic atrophy OMIM:613672
Narp Syndrome
Retinal arteriolar tortuosity, Retinal pigment epithelial mottling, Rod-cone dystrophy, Optic dis... ORPHA:644
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Optic atrophy OMIM:613151
Peroxisome Biogenesis Disorder 11B
Cataract OMIM:614885
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Optic atrophy ORPHA:1528
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Peroxisome Biogenesis Disorder 9B
Rod-cone dystrophy, Cataract OMIM:614879
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Axonal degeneration, Pigmentary retinopathy, A... ORPHA:88628
Alpha-Mannosidosis, Adult Form
Optic disc pallor, Cataract, Corneal opacity ORPHA:309288
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy ORPHA:352682
Diencephalic Syndrome
Optic atrophy ORPHA:1672
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Cataract, Retinal degeneration OMIM:615249
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Spinocerebellar Ataxia, Autosomal Recessive 8
Peripheral axonal neuropathy, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:610743
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Unilateral facial palsy, Rod-cone dystrophy, Optic atrophy, Astigmatism OMIM:618547
Full Nf2-Related Schwannomatosis
Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma, Retinal h... ORPHA:637
Vici Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Abnormal macular morphology ORPHA:1493
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Distal Deletion 13Q
Optic atrophy, Iris coloboma ORPHA:1590
Wolfram Syndrome 1
Pigmentary retinopathy, Cataract, Optic atrophy OMIM:222300
Crouzon Syndrome
Conjunctivitis, Optic atrophy, Iris coloboma ORPHA:207
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Opto-chiasmatic atrophy, Cataract OMIM:620089
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy ORPHA:99014
Leber Optic Atrophy
Central retinal vessel vascular tortuosity, Optic atrophy, Leber optic atrophy, Optic neuropathy OMIM:535000
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Yellow... ORPHA:93400
Xeroderma Pigmentosum, Complementation Group B
Decreased nerve conduction velocity, Pigmentary retinopathy, Cataract, Optic atrophy OMIM:610651
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Optic atrophy ORPHA:254343
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Cataract, Optic atrophy, Microcornea, Iris coloboma ORPHA:3301
Proteus-Like Syndrome
Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis ORPHA:2969
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Juvenile Sialidosis Type 2
Cherry red spot of the macula, Cataract, Optic atrophy, Corneal opacity ORPHA:93399
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Autosomal Dominant Optic Atrophy, Classic Form
Temporal optic disc pallor, Cataract, Optic atrophy, Morning glory anomaly ORPHA:98673
Developmental And Epileptic Encephalopathy 48
Optic disc pallor, Rod-cone dystrophy OMIM:617276
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Myopic astigmatism, Ocular albinism, Blue irides, Iri... OMIM:614077
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,... OMIM:231550
Isolated Atp Synthase Deficiency
Rod-cone dystrophy, Optic atrophy, Cataract ORPHA:254913
Phace Association
Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Increased retinal... OMIM:606519
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Cherry red spot of the macula, Optic disc pallor OMIM:615281
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Ectopia pupillae, Astigmatism, Optic atrophy, Cataract OMIM:618727
Axial Spondylometaphyseal Dysplasia
Cataract, Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy ORPHA:168549
Norrie Disease
Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Remnants o... ORPHA:649
Warburg Micro Syndrome 2
Microcornea, Cataract, Optic atrophy, Developmental cataract OMIM:614225
Warburg Micro Syndrome 3
Cataract, Optic atrophy, Developmental cataract, Microcornea, Shallow anterior chamber OMIM:614222
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Astigmatism, Chorioretinal coloboma, Peters anomaly, Iris coloboma ORPHA:494344
Optic Pathway Glioma
Papilledema, Neurofibroma, Optic atrophy ORPHA:2086
Optic Atrophy-Intellectual Disability Syndrome
Keratoconus, Optic atrophy, Optic disc hypoplasia, Optic nerve hypoplasia ORPHA:401777
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Microcornea, Optic atrophy, Developmental cataract OMIM:615663
Canavan Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Congenital Tufting Enteropathy
Corneal erosion, Optic disc coloboma, Punctate keratitis, Cataract ORPHA:92050
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Microcornea, Iris transillumination defect, Cataract, Coloboma OMIM:617306
Micro Syndrome
Abnormality of retinal pigmentation, Cataract, Optic atrophy, Microcornea, Retinal coloboma ORPHA:2510
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Optic atrophy, Sensory axonal neuropathy, Motor axonal neuropathy OMIM:609541
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Microcornea, Peters anomaly, Retinal vascular tor... OMIM:243605
Marinesco-Sjögren Syndrome
Cataract, Optic atrophy ORPHA:559
Schindler Disease, Type I
Optic atrophy OMIM:609241
Papillorenal Syndrome
Retinal detachment, Cataract, Morning glory anomaly, Lens luxation, Macular hyperpigmentation, Op... OMIM:120330
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy, Cataract ORPHA:79095
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Optic atrophy, Retinal degeneration OMIM:249270
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Buphthalmos, Cataract, Retinal dystrophy ORPHA:370997
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Retinal neovascularization OMIM:619074
Madras Motor Neuron Disease
Optic atrophy, Facial palsy ORPHA:137867
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Cataract, Developmental glaucoma, Optic atrophy,... ORPHA:99956
Neuronal Intranuclear Inclusion Disease
Optic atrophy ORPHA:2289
Oculocerebrofacial Syndrome, Kaufman Type
Chorioretinal dystrophy, Optic atrophy, Microcornea, Abnormal optic nerve morphology, Choroideremia ORPHA:2707
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Retinal atrophy, Corneal opacity, Optic nerve hypoplasia, Cataract, Optic atr... OMIM:236670
Nephronophthisis 11
Anisocoria, Retinal degeneration OMIM:613550
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Iris coloboma OMIM:222448
Zellweger Syndrome
Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic atrophy, Po... ORPHA:912
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Band keratopathy, Chorioretinal atrophy, Developmental cat... OMIM:267750
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy OMIM:614651
Knobloch Syndrome
Retinal detachment, Cataract, Ectopia lentis, Abnormal vitreous humor morphology, Macular degener... ORPHA:1571
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Facial palsy OMIM:615085
Osteopetrosis, Autosomal Recessive 4
Optic disc pallor, Optic atrophy, Facial palsy OMIM:611490
Atelis Syndrome 2
Vitreous hemorrhage, Remnants of the hyaloid vascular system, Developmental cataract OMIM:620185
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Familial Dysautonomia
Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop... ORPHA:1764
Alport Syndrome 2, Autosomal Recessive
Corneal erosion, Cataract, Anterior lenticonus OMIM:203780
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Macular hypoplasia, Iris coloboma, Chorioretinal coloboma OMIM:615219
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2801
Werner Syndrome
Cataract, Retinal degeneration OMIM:277700
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Aganglionic megacolon ORPHA:2151
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Autosomal Dominant Optic Atrophy And Cataract
Anterior subcapsular cataract, Cataract, Posterior cortical cataract, Cerulean cataract, Anterior... ORPHA:67036
Spinocerebellar Ataxia, Autosomal Recessive 28
Optic atrophy OMIM:618800
Trichothiodystrophy 4, Nonphotosensitive
Microcornea, Keratoconjunctivitis sicca, Optic atrophy OMIM:234050
Temtamy Preaxial Brachydactyly Syndrome
Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy ORPHA:363417
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Blau Syndrome
Nongranulomatous uveitis, Cataract, Band keratopathy, Uveitis, Iritis, Cystoid macular edema, Abn... OMIM:186580
Papilloma Of Choroid Plexus
Papilledema OMIM:260500
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Epiretinal membrane, Phot... OMIM:616959
Kenny-Caffey Syndrome, Type 2
Retinal calcification, Papilledema, Developmental cataract OMIM:127000
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cataract, Optic atrophy ORPHA:543470
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Astigmatism, Optic atrophy ORPHA:480898
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Ifap Syndrome 2
Keratitis, Keratoconjunctivitis sicca, Cataract OMIM:619016
Bardet-Biedl Syndrome 20
Retinal vascular tortuosity, Papilledema, Rod-cone dystrophy, Astigmatism OMIM:619471
Combined Oxidative Phosphorylation Deficiency 29
Retinopathy, Axonal degeneration, Optic atrophy, Optic neuropathy OMIM:616811
Cerebrotendinous Xanthomatosis
Optic disc pallor, Cataract, Abnormality of central somatosensory evoked potentials OMIM:213700
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Sclerocornea, Microcornea, Coloboma, Ectopia pupillae OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Retinal detachment, Cataract, Optic atrophy, Retinal dysplasia OMIM:253800
Retinoblastoma
Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma OMIM:180200
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome
Congenital stationary night blindness, Abnormal optic disc morphology, Decreased corneal thickness ORPHA:293967
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Retinal vascular malformation, Het... ORPHA:42775
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Cataract, Retinal vascular proliferation, Keratitis,... OMIM:308300
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Ectopia lentis, Optic atrophy ORPHA:394
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Cataract, Optic atrophy ORPHA:314404
Cataract 31, Multiple Types
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract OMIM:605387
Crouzon Syndrome
Keratitis, Conjunctivitis, Optic atrophy OMIM:123500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Cataract, Optic atrophy, Buphthalmos, Coloboma, Hypoplasia of the retina, Retina... OMIM:253280
Facial Spasm
Anisocoria OMIM:134300
Congenital Fibrosis Of Extraocular Muscles
Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract ORPHA:45358
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Retinal neovascularization, Macul... ORPHA:247691
Acro-Renal-Ocular Syndrome
Cataract, Aganglionic megacolon, Optic disc hypoplasia, Optic disc coloboma, Microcornea, Colobom... ORPHA:959
Cataract 15, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Nuclear cataract, Cortical cataract OMIM:611391
Mitochondrial Complex I Deficiency, Nuclear Type 28
Optic disc pallor, Optic atrophy, Optic neuropathy OMIM:618249
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Ramon Syndrome
Axenfeld anomaly, Optic disc pallor, Pigmentary retinopathy OMIM:266270
Neuroocular Syndrome
Hypoplasia of the fovea, Cataract, Remnants of the hyaloid vascular system, Brushfield spots, Len... OMIM:619539
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Optic atrophy ORPHA:504476
Xfe Progeroid Syndrome
Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels OMIM:610965
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Optic atrophy ORPHA:95433
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Halperin-Birk Syndrome
Optic atrophy, Developmental cataract OMIM:618651
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Corneal opacity, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhage, Developmental cata... OMIM:175780
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Retinoblastoma
Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Leukocoria, Uveiti... ORPHA:790
Duane Retraction Syndrome
Central heterochromia, Optic disc hypoplasia, Abnormal pupil morphology, Microcornea, Hypoplastic... ORPHA:233
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Optic atrophy OMIM:201180
Linear Skin Defects With Multiple Congenital Anomalies 1
Cataract, Sclerocornea, Pigmentary retinopathy, Peters anomaly, Iris coloboma OMIM:309801
Osteoporosis-Pseudoglioma Syndrome
Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a... OMIM:259770
Microphthalmia, Syndromic 3
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea, Coloboma OMIM:206900
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology ORPHA:250999
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Retinal atrophy, Retinal dystrophy, Cataract, Re... ORPHA:90324
Autosomal Dominant Kenny-Caffey Syndrome
Retinal calcification, Papilledema, Developmental cataract ORPHA:93325
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... ORPHA:2526
Acromelic Frontonasal Dysostosis
Remnants of the hyaloid vascular system, Optic nerve hypoplasia OMIM:603671
Stankiewicz-Isidor Syndrome
Abnormal optic disc morphology OMIM:617516
Oculodentodigital Dysplasia
Microcornea, Cataract, Optic atrophy, Abnormality iris morphology ORPHA:2710
Hyperoxaluria, Primary, Type I
Choroidal neovascularization, Optic neuropathy, Retinal crystals, Optic atrophy, Retinopathy OMIM:259900
Wolfram Syndrome 2
Optic atrophy, Optic neuropathy OMIM:604928
Holoprosencephaly 2
Cyclopia, Remnants of the hyaloid vascular system, Iris coloboma, Chorioretinal coloboma OMIM:157170
Neurocardiofaciodigital Syndrome
Optic disc pallor, Cataract, Sclerocornea OMIM:619869
Peroxisome Biogenesis Disorder 4B
Decreased nerve conduction velocity, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy OMIM:614863
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities
Cataract, Optic atrophy OMIM:617913
Microphthalmia, Syndromic 2
Retinal detachment, Remnants of the hyaloid vascular system, Developmental cataract, Microcornea,... OMIM:300166
Proboscis Lateralis
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic disc coloboma, Microcornea, Chorioretina... ORPHA:141099
Meckel Syndrome
Cataract, Abnormal chorioretinal morphology, Sclerocornea, Optic atrophy, Microcornea, Aplasia/Hy... ORPHA:564
Craniotubular Dysplasia, Ikegawa Type
Optic nerve compression, Optic atrophy, Optic neuropathy, Mydriasis OMIM:619727
Blau Syndrome
Cataract, Facial palsy, Abnormal retinal vascular morphology, Retrobulbar optic neuritis, Keratit... ORPHA:90340
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Optic nerve hypoplasia, Facial palsy, Coloboma, Abnormal optic disc morphology, Retinal coloboma,... ORPHA:508498
Collagenoma, Familial Cutaneous
Iris atrophy OMIM:115250
Von Hippel-Lindau Disease
Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic islet cell adenoma, Pancrea... ORPHA:892
Alzahrani-Kuwahara Syndrome
Optic disc pallor, Astigmatism, Cataract OMIM:619268
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Foveal hyporeflective spa... ORPHA:71505
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Abnormal optic disc morphology, Subretinal deposits, Retinal dystrophy ORPHA:397715
7Q11.23 Microduplication Syndrome
Abnormal optic disc morphology, Astigmatism ORPHA:96121
Leptospirosis
Papilledema, Retinal hemorrhage, Uveitis, Chorioretinitis, Optic neuritis, Macular cotton wool sp... ORPHA:509
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Abnormality iris morphology ORPHA:91387

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 1700001O22Rik

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 1700001O22Rik.

No publications found that use IMPC mice or data for 1700001O22Rik.

Order Mouse and ES Cells

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MGI Allele Allele Type Produced
1700001O22Riktm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
1700001O22Rikem1(IMPC)J Exon Deletion Mice
1700001O22Riktm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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