Table 2 Non-syndromic and syndromic retinal dystrophies and inheritance pattern
From: Retinitis pigmentosa and allied conditions today: a paradigm of translational research
Retinal dystrophy | Inheritance |
|---|---|
Non-syndromic | Â |
   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 | Â |
   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 |