Original articleSystematic Screening of BEST1 and PRPH2 in Juvenile and Adult Vitelliform Macular Dystrophies: A Rationale for Molecular Analysis
Section snippets
Patients and Methods
The database of the outpatient clinic for genetic sensory diseases, Maolya (Montpellier University Hospital, France), was screened for families with presumed VMD2 and AVMD. Informed consent was obtained for clinical examination and genetic analysis from all patients, according to approved protocols of the Montpellier University Hospital, in agreement with the Declaration of Helsinki.
Results
From 1990 to 2009, among the 1585 families included in the Maolya database of the outpatient clinic for genetic sensory diseases, 279 families had a macular dystrophy (17.6%). Within this subgroup, 25 unrelated patients were classified with VMD2 disease (8.9%) and 19 were classified with AMVD (6.8%).
Discussion
The present study was designed to evaluate the relevance of age of onset, Arden ratio, and family history in VMD2 and AVMD, and to propose a rationale for genetic screening. Age of onset was the best criterion to predict the presence of a mutation in either BEST1 or PRPH2. Electro-oculogram Arden ratio was not as relevant as previously thought because 20% of BEST1-positive patients had a normal ratio and the 3 PRPH2-positive patients had a decreased ratio. Nevertheless, a positive family
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2020, American Journal of OphthalmologyCitation Excerpt :Thirty-seven BEST1 mutations were detected in 53 vitelliform macular dystrophy patients in our study. The mutation detection rate was 40% (53/134) in total, 45% in BVMD patients, 82% in ARB or ARB-like patients, and 0% in AVMD patients, which is in accordance with previous reports showing that the mutation rate was around 50%-86% in BVMD patients,13,29,31,39,42 100% in ARB patients,2,36 and 0%-33% in AVMD patients.29,43 The majority of BEST1 mutations (32/37) in our patients were missense mutations, which was also consistent with previous studies.1,12
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Manuscript no. 2010-499.
Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article.