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.