Vision impairment / blindness

Abetalipoproteinemia

Achromatopsia

Age-related Macular Degeneration (AMD)

Alstrom syndrome

Aniridia

Ataxia, posterior column with retinitis pigmentosa

Autosomal recessive retinal degeneration

Bardet-Biedl syndrome

Basal Laminar Drusen

Bestrophinopathy

Bietti crystalline corneoretinal dystrophy

Blue cone monochromacy

Bornholm eye disease

Bothnia retinal dystrophy

Boucher-Neuhauser syndrome

Branchio-oculo-facio syndrome (BOF)

CAPOS syndrome

Central Areolair Chorioid Dystrophy

CHARGE syndrome

Choroideremia

Ciliopathies (WES)

Color blindness, red/green

Cone dystrophy

Cone-rod dystrophy (CRD)

Congenital cataracts with facial dysmorphism and neuropathy

Congenital disorder of glycosylation

Congenital stationary night blindness

Cornea plana congenita

Donnai-Barrow syndrome

Enhanced S-cone syndrome

Exsudative Vitreoretinopathy

Fleck retina, familial benign

Fundus albipunctatus

Glaucoma

Gyrate atrophy of choroid and retina

Leber Congenital Amaurosis

Macula dystrophy

Macular corneal dystrophy type 1

Malattia Leventinese

Marinesco-Sjögren syndrome

Microphtalmia, syndromic

Nance-Horan Syndrome

Norrie disease

Oculodentodigital dysplasia (ODDD)

Optic atrophy

Osteoporosis-pseudoglioma syndrome (OPPG)

Papillorenal syndrome

Refsum disease

Retinal macular dystrophy

Retinitis Pigmentosa, autosomal dominant

Retinitis Pigmentosa, autosomal recessive

Retinitis punctata albescens

Schimke immunoosseous dysplasia

Senior-Loken syndrome

Sjogren-Larsson syndrome

Stargardt disease

Stickler syndrome

Tay Sachs disease

Treacher Collins-Franceschetti syndrome

Usher syndrome

Uveal melanoma, hereditary

Vision disorders (WES)

Vitelliform Macular Dystrophy

Vitreoretinochoroidopathy

Von Hippel-Lindau syndrome

Wagner disease

Weill-Marchesani syndrome

Wolfram syndrome (DIDMOAD)

X-linked retinitis pigmentosa