Novel RCBTB1 variants causing later-onset non-syndromic retinal dystrophy with macular chorioretinal atrophy.
Andrew J CatomerisBrian G BalliosRiccardo SangermanoNaomi E WagnerJason I ComanderEric A PierceEmily M PlaceKinga M BujakowskaRachel M HuckfeldtPublished in: Ophthalmic genetics (2022)
-associated disease. These cases confirm the later-onset, relative to many other retinal dystrophies, and macular focus of disease described in most cases to-date. They are thus a reminder of considering hereditary disease in the differential for later-onset macular atrophy.