Progressive retinal atrophy (BBS2: c.1222G>C)
PRA associated with the BBS2 gene is a hereditary form of progressive retinal degeneration characterized by damage to photoreceptor cells, leading to gradual vision loss. This progressive condition typically begins with reduced night vision and advances to complete blindness, with a variable rate of progression between individuals. Ophthalmoscopic examination reveals typical signs of bilateral retinal degeneration, including retinal thinning and vascular changes. In advanced stages, secondary complications such as cataracts may develop.



