X-kromoszómához kötött recesszív · About 1 in 50,000 people.
An X-linked chorioretinal degeneration caused by changes in the CHM gene; female carriers usually have mild fundus changes and few symptoms.
Mit változtat a diagnózis
Regular eye care supports low-vision planning, a genetic diagnosis is needed for gene-therapy trials, and female relatives can be offered carrier testing.
Vizsgált gének
Más néven
CHM; progressive choroidal atrophy; progressive tapetochoroidal dystrophy; Tapetochoroidal dystrophy; TCD
2 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- choroideremia hypopituitarism
- total central choroidal atrophy
