Retinal Dysplasia, Primary |
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Retinal dysplasia, Falciform retinal fold |
OMIM:312550 |
Persistent Placoid Maculopathy |
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Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... |
ORPHA:97341 |
Choroidal Dystrophy, Central Areolar, 1 |
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Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy |
OMIM:215500 |
Foveal Hypoplasia 1 |
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Hypoplasia of the fovea |
OMIM:136520 |
Stargardt Disease 1 |
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Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy |
OMIM:248200 |
Microphthalmia, Isolated, With Coloboma 6 |
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Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia |
OMIM:613703 |
Stargardt Disease |
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Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... |
ORPHA:827 |
Night Blindness, Congenital Stationary, Type 1D |
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Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... |
OMIM:613830 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
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Hypoplasia of the fovea, Optic atrophy |
OMIM:620086 |
Achromatopsia 7 |
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Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy |
OMIM:616517 |
Oculocutaneous Albinism Type 6 |
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Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul... |
ORPHA:370097 |
X-Linked Retinal Dysplasia |
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Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia |
ORPHA:1852 |
Exudative Vitreoretinopathy 7 |
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Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration |
OMIM:617572 |
Albinism, Oculocutaneous, Type Iv |
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Macular hypoplasia, Hypopigmentation of the fundus |
OMIM:606574 |
Exudative Vitreoretinopathy 3 |
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Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold |
OMIM:605750 |
Albinism, Oculocutaneous, Type V |
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Hypoplasia of the fovea |
OMIM:615312 |
Achromatopsia |
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Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... |
ORPHA:49382 |
Retinopathy, Pericentral Pigmentary, Dominant |
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Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... |
OMIM:180210 |
Retinoschisis 1, X-Linked, Juvenile |
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Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... |
OMIM:312700 |
Neuroectodermal Melanolysosomal Disease |
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Macular dystrophy, Optic atrophy, Abnormal optic nerve morphology, Aplasia/Hypoplasia of the macula |
ORPHA:33445 |
Familial Drusen |
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Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... |
ORPHA:75376 |
Foveal Hypoplasia 2 |
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Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting |
OMIM:609218 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Retinal atrophy, Optic atrophy, Hypoplasia of the retina, Retinal dysplasia, Microphthalmia, Reti... |
OMIM:253280 |
Oculocutaneous Albinism, Type Viii |
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Hypoplasia of the fovea, Chorioretinal hypopigmentation |
OMIM:619165 |
Albinism, Oculocutaneous, Type Vi |
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Hypoplasia of the fovea |
OMIM:113750 |
Cataract 21, Multiple Types |
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Retinal detachment, Macular hypoplasia |
OMIM:610202 |
Bardet-Biedl Syndrome 21 |
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Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Hyperautoflu... |
OMIM:617406 |
Ã…land Islands Eye Disease |
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Hypoplasia of the fovea, Hypopigmentation of the fundus |
ORPHA:178333 |
Aland Island Eye Disease |
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Hypoplasia of the fovea |
OMIM:300600 |
Isolated Aniridia |
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Aniridia, Aplasia/Hypoplasia of the macula |
ORPHA:250923 |
Congenital Hydrocephalus |
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Optic atrophy, Macular hypoplasia |
ORPHA:2185 |
Retinitis Pigmentosa 87 With Choroidal Involvement |
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Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... |
OMIM:618697 |
Reese Retinal Dysplasia |
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Remnants of the hyaloid vascular system, Retinal dysplasia |
OMIM:266400 |
Oculocutaneous Albinism Type 5 |
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Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology |
ORPHA:370091 |
Congenital Primary Aphakia |
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Microphthalmia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplasia, ... |
ORPHA:83461 |
Albinism, Ocular, Type I |
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Hypoplasia of the fovea, Ocular albinism, Depigmented fundus |
OMIM:300500 |
Microphthalmia, Isolated 8 |
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Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... |
OMIM:615113 |
Coloboma Of Optic Nerve |
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Retinal detachment, Optic disc coloboma |
OMIM:120430 |
Autosomal Dominant Keratitis |
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Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... |
ORPHA:2334 |
Oculocutaneous Albinism Type 4 |
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Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Optic nerve misrou... |
ORPHA:79435 |
Microcephaly, Amish Type |
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Hypoplasia of the fovea, Optic atrophy |
OMIM:607196 |
Albinism, Oculocutaneous, Type Ii |
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Hypoplasia of the fovea, Hypopigmentation of the fundus |
OMIM:203200 |
Achromatopsia 2 |
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Hypoplasia of the fovea, Retinal thinning, Absent foveal reflex, Peripapillary atrophy, Dull fove... |
OMIM:216900 |
Familial Benign Copper Deficiency |
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Aplasia/Hypoplasia of the fovea |
ORPHA:1551 |
Linear Verrucous Nevus Syndrome |
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Retinopathy, Aplasia/Hypoplasia of the fovea |
ORPHA:2611 |
Oculocutaneous Albinism Type 1 |
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Hypoplasia of the fovea, Abnormal morphology of the choroidal vasculature, Depigmented fundus, Op... |
ORPHA:352731 |
X-Linked Recessive Ocular Albinism |
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Hypoplasia of the fovea, Ocular albinism, Abnormal macular morphology |
ORPHA:54 |
Anterior Segment Dysgenesis 5 |
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Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia |
OMIM:604229 |
Developmental And Epileptic Encephalopathy 83 |
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Hypoplasia of the fovea |
OMIM:618744 |
Oculocutaneous Albinism Type 1B |
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Hypoplasia of the fovea, Abnormality of retinal pigmentation, Abnormal optic nerve morphology |
ORPHA:79434 |
Hermansky-Pudlak Syndrome 6 |
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Macular hypoplasia, Ocular albinism, Absent foveal reflex |
OMIM:614075 |
Oculoauricular Syndrome |
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Cone/cone-rod dystrophy, Retinal detachment, Morning glory anomaly, Chorioretinal atrophy, Retina... |
OMIM:612109 |
Chromosome 3Pter-P25 Deletion Syndrome |
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Macular hypoplasia |
OMIM:613792 |
Hermansky-Pudlak Syndrome 4 |
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Hypoplasia of the fovea, Ocular albinism |
OMIM:614073 |
Persistent Hyperplastic Primary Vitreous |
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Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... |
ORPHA:91495 |
Aniridia 1 |
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Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... |
OMIM:106210 |
Pierson Syndrome |
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Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... |
OMIM:609049 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
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Optic atrophy, Macular hypoplasia, Chorioretinal coloboma |
OMIM:615219 |
Oculocutaneous Albinism Type 1A |
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Hypoplasia of the fovea, Ocular albinism, Abnormal optic nerve morphology |
ORPHA:79431 |
Hermansky-Pudlak Syndrome 11 |
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Hypoplasia of the fovea, Ocular albinism |
OMIM:619172 |
Congenital Sialidosis Type 2 |
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Hypoplasia of the fovea, Cherry red spot of the macula, Optic atrophy, Yellow/white lesions of th... |
ORPHA:93400 |
Hermansky-Pudlak Syndrome 5 |
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Hypoplasia of the fovea, Ocular albinism |
OMIM:614074 |
Oculocutaneous Albinism Type 2 |
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Hypoplasia of the fovea, Abnormality of retinal pigmentation, Macular hypopigmentation, Optic ner... |
ORPHA:79432 |
Knobloch Syndrome 1 |
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Retinal detachment, Optic disc pallor, Patent ductus arteriosus, Chorioretinal atrophy, Vitreoret... |
OMIM:267750 |
Hermansky-Pudlak Syndrome 8 |
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Hypoplasia of the fovea, Optic disc pallor, Ocular albinism |
OMIM:614077 |
Albinism, Oculocutaneous, Type Ia |
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Hypoplasia of the fovea, Ocular albinism |
OMIM:203100 |
Chediak-Higashi Syndrome |
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Decreased nerve conduction velocity, Macular hypoplasia, Ocular albinism |
OMIM:214500 |
Incontinentia Pigmenti |
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Hypoplasia of the fovea, Retinal detachment, Retinal vascular proliferation, Optic atrophy, Retin... |
OMIM:308300 |
Jacobsen Syndrome |
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Microphthalmia, Optic atrophy, Macular hypoplasia, Chorioretinal coloboma |
OMIM:147791 |
Vici Syndrome |
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Macular hypoplasia, Macular atrophy, Hypopigmentation of the fundus, Ocular albinism |
OMIM:242840 |
Dihydropyrimidine Dehydrogenase Deficiency |
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Macular hypoplasia |
ORPHA:1675 |
Mend Syndrome |
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Macular hypoplasia |
OMIM:300960 |
Neuroocular Syndrome |
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Hypoplasia of the fovea, Microphthalmia, Lens coloboma, Remnants of the hyaloid vascular system |
OMIM:619539 |