Autoszomális recesszív
Caused by changes in both copies of TTLL5, an enzyme that modifies the tubulin skeleton of cilia, including the connecting cilium of photoreceptors and the sperm tail.
Tünetek és jelek
Gradual loss of central vision and colour vision from a cone or cone-rod dystrophy, often starting in adulthood, although some people have early-onset disease. Some men with certain changes have reduced fertility because their sperm move poorly.
Mit változtat a diagnózis
Regular eye review and low-vision support, with fertility advice for men where needed. Carrier testing of relatives and genetic counselling are available.
Vizsgált gének
1 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- cone-rod dystrophy 19
MONDO:1040038Források: [1][2][3]
