RAB28-Related Retinopathy
Autoszomális recesszív
Caused by changes in both copies of RAB28, which encodes a small protein involved in the renewal of photoreceptor outer segments.
Tünetek és jelek
Reduced central vision and poor colour vision, with reduced night vision from rod involvement. Changes at the macula, such as pigmentation, are seen on eye examination. The condition is progressive.
Mit változtat a diagnózis
Regular eye assessment and low-vision aids. Both parents are carriers, so genetic counselling and carrier testing for relatives are offered.
Vizsgált gének
Más néven
cone-rod dystrophy 18; cone-rod dystrophy caused by mutation in RAB28; cone-rod dystrophy type 18; CORD18; RAB28 cone-rod dystrophy; RAB28 retinopathy
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- cone-rod dystrophy 18
MONDO:0100448Források: [2][1][3]
