Autoszomális domináns
Caused by a change in one copy of the IMPG1 gene, which makes a component of the matrix that surrounds photoreceptor cells. Changes can be inherited, and some carriers have no symptoms.
Tünetek és jelek
Yellowish (vitelliform) deposits at the macula, which can be found in adulthood, with reduced central vision in some people. Some carriers have no symptoms. Retinitis pigmentosa, with more widespread retinal involvement, has also been reported.
Mit változtat a diagnózis
Regular eye examinations with retinal imaging, and low-vision support where needed. Each child of an affected person has a 1 in 2 chance of inheriting the change, so genetic counselling and family testing can be offered.
Vizsgált gének
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- benign concentric annular macular dystrophy
MONDO:1040036Források: [1][3][2]
