Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy

Maria Lucia Cascavilla, Giuseppe Querques, Stefania Stenirri, Maurizio Battaglia Parodi, Lea Querques, Francesco Bandello

Research output: Contribution to journalArticlepeer-review

Abstract

Aims: It was the aim of this study to report on a patient in whom a novel mutation in the BEST1 gene was responsible for unilateral vitelliform phenotype in autosomal recessive bestrophinopathy (ARB). Methods: An 8-year-old young girl (proband) with unilateral vitelliform phenotype underwent a complete ophthalmologic examination at baseline (time of diagnosis) and 2 years later. Genomic DNA was extracted to look for BEST1 gene mutations in the patient and her parents. Results: Fundus autofluorescence imaging and spectral-domain optical coherence tomography showed unchanged findings in the right eye over the 2-year follow-up period. Conversely, both fundus autofluorescence imaging and spectral-domain optical coherence tomography showed a partial reabsorption of the hyper-autofluorescent/hyper-reflective subretinal material in the left macula over the 2-year follow-up period. On BEST1 gene analysis, the patient presented a novel mutation c.535-537delAAC (p.Asn179del) in homozygous condition; interestingly, despite the absence of parents' consanguinity, both the father and mother showed the same novel mutation in heterozygous condition. Conclusion: This case of unilateral vitelliform phenotype further supports the notion that ARB represents a disease spectrum in terms of severity, age at onset and heritability.

Original languageEnglish
Pages (from-to)146-150
Number of pages5
JournalOphthalmic Research
Volume48
Issue number3
DOIs
Publication statusPublished - Sep 2012

Keywords

  • Autosomal recessive bestrophinopathy
  • Best vitelliform macular dystrophy
  • BEST1 gene
  • Electro-oculogram
  • Electroretinogram
  • Fundus autofluorescence
  • Macular dystrophy
  • Optical coherence tomography

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Cellular and Molecular Neuroscience

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