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. 2010 May 27;2(5):34. doi: 10.1186/gm155

Table 2.

Non-syndromic and syndromic retinal dystrophies and inheritance pattern

Retinal dystrophy Inheritance
Non-syndromic
 Retinitis pigmentosa ad, ar, xl, digenic
 Cone or cone-rod dystrophy ad, ar, xl
 Leber congenital amaurosis Mainly ar, rarely ad
 Stargardt disease Mainly ar, rarely ad
 Fundus flavimaculatus ar
 Congenital stationary night blindness ad, ar, xl
 North Carolina macular dystrophy ad
 Sorsby's macular dystrophy ad
 Pattern macular dystrophy ad
 Vitelliform macular dystrophy (Best's disease) ad (incomplete penetrance)
 Choroideremia xl
 X-linked retinoschisis xl
 Gyrate atrophy ar
Syndromic
 Usher syndrome ar
 Bardet-Biedl syndrome ar, oligogenic
 Senior-Locken syndrome ar
 Alport syndrome xl
 Älmstron syndrome ar
 Joubert Syndrome ar
 Nephronophthisis ar, oligogenic
 Cockayne syndrome ar
 Refsum disease ar
 Autosomal dominant cerebellar ataxia type 7 ad
 Norrie disease xl

ad: autosomal dominant; ar: autosomal recessive; xl: X-linked.