Autozomálně recesivní
Caused by changes in both copies of RDH5, an enzyme in the visual cycle that regenerates the light-sensitive pigment of photoreceptors. Changes are thought to slow pigment regeneration, so the eyes take much longer to adapt to the dark.
Příznaky a projevy
Night blindness and very slow adaptation to darkness, usually noticed in childhood, with many small white-yellow dots across the retina. Daytime vision is usually normal and the condition is largely stationary. Less often, particularly with age, changes develop in the macula or cone cells that reduce central vision.
Co se diagnózou změní
Regular eye examinations to monitor for macular or cone involvement, and advice on managing night vision. Parents are usually carriers, so carrier testing for relatives and genetic counselling are available.
Známé také jako
fundus albipunctatus; pigmentary retinal dystrophy; RDH5 retinopathy; retinitis punctata albescens
Zahrnuje 2 příbuzných podtypů ↓Skrýt podtypy ↑
- fundus albipunctatus
- retinitis punctata albescens
