Autoszomális recesszív
Caused by changes in both copies of CNNM4, a gene thought to transport magnesium in the retina and in the cells that form tooth enamel. Each parent usually carries one changed copy.
Tünetek és jelek
Cone-rod dystrophy with reduced central and colour vision. Tooth enamel is thin and soft, being hypoplastic and hypocalcified, and some people have crossbite and advanced dental age. Developmental delay has been reported in some people.
Mit változtat a diagnózis
Regular eye reviews with low-vision aids and tinted lenses, and specialist dental care to protect and restore teeth. Genetic counselling and carrier testing of relatives clarify recurrence risk.
Vizsgált gének
Más néven
cone rod dystrophy-amelogenesis imperfecta syndrome; cone-rod dystrophy amelogenesis imperfecta; cone-rod dystrophy with amelogenesis imperfecta
