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A novel NR 2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy
Author(s) -
Mahajan Deepti,
Votruba Marcela
Publication year - 2018
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/aos.13629
Subject(s) - ophthalmology , retinitis pigmentosa , fundus (uterus) , retina , retinal , electroretinography , medicine , anatomy , biology , neuroscience
NR2E3 is a gene that encodes for photoreceptor cell specific nuclear receptor, which is involved in cone proliferation. The splice site mutation 119-2Au003eC in NR2E3 (15q23) has been previously reported to underlie recessive enhanced cone S sensitivity syndrome, clumped pigmentary retinal degeneration, Goldman-Favre syndrome and also autosomal dominant and autosomal recessive retinitis pigmentosa (RP). However, the mutation c 571 + 2 T u003e C in NR2E3 has not been previously reported with retinal disease. We report a 44-year-old male patient who presented with night blindness since birth and acute onset decreased vision, with the compound heterozygous mutation c.119-2Au003eC and c.571+2Tu003eC in the NR2E3 gene. A diagnosis of retinitis pigmentosa with cystic maculopathy was made and the patient was treated with oral carbonic anhydrase inhibitors, which lead to the partial resolution of foveal cysts and an improvement in visual acuity.