Retinal Dystrophy Due to Retinol Transport Defect
Autozomálně recesivní
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.
Příznaky a projevy
Progressive degeneration of the retinal pigment layer. Blood retinol-binding protein levels are measured to help classify RBP4 variants.
Co se diagnózou změní
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.
Analyzované geny
Známé také jako
RDCCAS; retinal dystrophy, iris coloboma, and comedogenic acne syndrome; retinol dystrophy-iris coloboma-comedogenic acne syndrome
