کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6195644 1602127 2015 13 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی چشم پزشکی
پیش نمایش صفحه اول مقاله
High Prevalence of PRPH2 in Autosomal Dominant Retinitis Pigmentosa in France and Characterization of Biochemical and Clinical Features
چکیده انگلیسی

PurposeTo assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients.DesignRetrospective clinical and molecular genetic study.MethodsClinical investigations included visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and electroretinogram (ERG) recording. PRPH2 was screened by Sanger sequencing in a cohort of 310 French families with adRP. Peripherin-2 protein was produced in yeast and analyzed by Western blot.ResultsWe identified 15 mutations, including 6 novel and 9 previously reported changes in 32 families, accounting for a prevalence of 10.3% in this adRP population. We showed that a new recurrent p.Leu254Gln mutation leads to protein aggregation, suggesting abnormal folding. The clinical severity of the disease in examined patients was moderate with 78% of the eyes having 1-0.5 of visual acuity and 52% of the eyes retaining more than 50% of the visual field. Some patients characteristically showed vitelliform deposits or macular involvement. In some families, pericentral RP or macular dystrophy were found in family members while widespread RP was present in other members of the same families.ConclusionsThe mutations in PRPH2 account for 10.3% of adRP in the French population, which is higher than previously reported (0%-8%) This makes PRPH2 the second most frequent adRP gene after RHO in our series. PRPH2 mutations cause highly variable phenotypes and moderate forms of adRP, including mild cases, which could be underdiagnosed.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: American Journal of Ophthalmology - Volume 159, Issue 2, February 2015, Pages 302-314
نویسندگان
, , , , , , , , , , , , , ,