Unilateral vitelliform phenotype in autosomal recessive bestrophinopathy

Ophthalmic Research
Maria Lucia CascavillaFrancesco Bandello

Abstract

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). 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. 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. This case of unilateral vitelliform phenotype further supports the notion that ARB represents a disease spectrum in ter...Continue Reading

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Citations

May 27, 2014·Documenta Ophthalmologica. Advances in Ophthalmology·C CrowleyJ Khan
Oct 11, 2017·Retina·Sarra GattoussiAmani A Fawzi
Sep 27, 2016·Retinal Cases & Brief Reports·Talia R KadenK Bailey Freund
Jun 23, 2015·Optometry and Vision Science : Official Publication of the American Academy of Optometry·Michelle E MatsonJennifer L Monarrez
Dec 12, 2020·International Journal of Molecular Sciences·Karsten HufendiekUlrich Kellner
May 21, 2021·Investigative Ophthalmology & Visual Science·Tyler A PfisterRobert B Hufnagel

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