Novel clinical findings in autosomal recessive NR2E3-related retinal dystrophy.
Vittoria MurroDario Pasquale MuccioloAndrea SodiIlaria PasseriniDario GiorgioGianni VirgiliStanislao RizzoPublished in: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie (2018)
Our study confirmed high variable phenotype in autosomal recessive NR2E3-related retinal dystrophy. Bull's eye maculopathy, subretinal drusenoid deposits, and foveal hypoplasia represent novel clinical findings in NR2E3-related retinal dystrophy. Macular involvement was detectable in all the patients, and the abnormal foveal avascular zone (FAZ) supports the role of NR2E3 in retinal development.