Which of the following is not a feature of Leber congenital amaurosis?
It has autosomal recessive and not autosomal dominant inheritance pattern. Leber Congenital Amourosis: Severe rod cone dystrophy that is commonest cause of visual impairement in infants and children. Autosomal Recessive inheritance pattern Also called Oculodigital Syndrome Severe Macular Dystrophy Pigmentation Absent light reflexes Constant rubbing of eyes cause enophthalmos
Pupillary reflexes are impaired
Enophthalmos
Autosomal Dominant
MC retinal dystrophy in infants
Retina