publication . Article . 2017

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

Deepti Mahajan; Marcela Votruba;
Open Access English
  • Published: 07 Sep 2017
  • Publisher: Wiley-Blackwell
  • Country: United Kingdom
Abstract
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.119-2...
Subjects
Medical Subject Headings: eye diseasessense organsgenetic structures
free text keywords: Locus heterogeneity, medicine.disease, medicine, Visual acuity, medicine.symptom, Surgery, medicine.medical_specialty, Pathology, Retinal, chemistry.chemical_compound, chemistry, Retinitis pigmentosa, Compound heterozygosity, Dominance (genetics), business.industry, business, Splice site mutation, Photoreceptor cell-specific nuclear receptor
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