Most common ophthalmological manifestations of the X-linked form of Alpo syndrome is:: (A) Dot and flake retinopathy, (B) Anterior lenticonus, (C) Posterior polymorphous corneal dystrophy, (D) Posterior lenticonus
Answer is A. The typical ophthalmological manifestations of the X-linked form of AS are 1. Dot-and-fleck retinopathy which occur in about 85% of affected adult males And 2. Anterior lenticonus which occur in about v25% Other additional ocular abnormalities are: 1. Recurrent corneal epithelial erosions 2. Posterior polymorphous corneal dystrophy 3. Posterior lenticonus 4. Macular holes 5. Retinal detachment The ocular manifestations presents after renal abnormalities manifest The dot-and-fleck retinopathy is not associated visual impairment or night blindness. Ref: Dan Med Bull 2009;56:105-52