Autoszomális recesszív
Caused by changes in IMPG1, which encodes a proteoglycan of the matrix surrounding photoreceptors. Changes in one copy and in both copies have been linked to retinitis pigmentosa, and single changes can also cause vitelliform macular dystrophy.
Tünetek és jelek
Night blindness followed by gradual loss of side (peripheral) vision, typical of retinitis pigmentosa. Some people with IMPG1 changes have early macular involvement, or develop a macular dystrophy (vitelliform or pattern dystrophy) instead. Age at onset and rate of progression vary.
Mit változtat a diagnózis
Regular eye assessment, low-vision aids and support services help with daily life. Genetic counselling is offered, and carrier testing of relatives depends on the inheritance pattern in the family.
Vizsgált gének
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- vitelliform macular dystrophy 4
