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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 Huckfeldt
Published 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.
Keyphrases
  • optical coherence tomography
  • diabetic retinopathy
  • early onset
  • optic nerve
  • dna methylation
  • intellectual disability
  • autism spectrum disorder