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A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy

Mahajan, D. and Votruba, Marcela ORCID: 2017. A novel NR2E3 gene mutation in autosomal recessive retinitis pigmentosa with cystic maculopathy. Acta Ophthalmologica 95 (S259) 10.1111/j.1755-3768.2017.02682

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NR2E3 is a gene that encodes for photoreceptor cell specific nuclear receptor, which is involved in cone proliferation. The splice site mutation 119-2A>C 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 > 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.119-2A>C and c.571+2T>C 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.

Item Type: Article
Date Type: Publication
Status: Published
Schools: Optometry and Vision Sciences
Publisher: Wiley-Blackwell
ISSN: 1755-375X
Date of First Compliant Deposit: 26 October 2017
Date of Acceptance: 7 September 2017
Last Modified: 07 Nov 2023 06:47

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