Retinal Dystrophy Due to Retinol Transport Defect
Autoszomális recesszív
Caused by changes in both copies of RBP4, the retinol-binding protein that carries vitamin A in the blood. Recessive variants are associated with retinal degeneration.
Tünetek és jelek
Progressive degeneration of the retinal pigment layer. Blood retinol-binding protein levels are measured to help classify RBP4 variants.
Mit változtat a diagnózis
Regular ophthalmology follow-up and low-vision support. Any vitamin A treatment should be guided by specialists. Parents are usually carriers, so carrier testing for relatives and genetic counselling are available.
Vizsgált gének
Más néven
RDCCAS; retinal dystrophy, iris coloboma, and comedogenic acne syndrome; retinol dystrophy-iris coloboma-comedogenic acne syndrome
