June 2023
Volume 64, Issue 8
Open Access
ARVO Annual Meeting Abstract  |   June 2023
Multimodal imaging, electrophysiology, and angiotomography in atypical genetic variant in Best Vitelliform Macular Dystrophy
Author Affiliations & Notes
  • Nancy Arias
    Hospital de la luz, Universidad Nacional Autonoma de Mexico, Ciudad de Mexico, Ciudad de México, Mexico
  • Axel Orozco-Hernandez
    Hospital de la luz, Universidad Nacional Autonoma de Mexico, Ciudad de Mexico, Ciudad de México, Mexico
  • Footnotes
    Commercial Relationships   Nancy Arias None; Axel Orozco-Hernandez None
  • Footnotes
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Investigative Ophthalmology & Visual Science June 2023, Vol.64, 3739. doi:
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      Nancy Arias, Axel Orozco-Hernandez; Multimodal imaging, electrophysiology, and angiotomography in atypical genetic variant in Best Vitelliform Macular Dystrophy. Invest. Ophthalmol. Vis. Sci. 2023;64(8):3739.

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      © ARVO (1962-2015); The Authors (2016-present)

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Abstract

Purpose : Prospective observational case series to describe the correlation of the atypical genetic variant in a Mexican family and its correlation with multimodal imaging electrophysiology and angiotomography

Methods : We report a series of cases with c 886 mutation and tis phenotypic correlation in different stages of the disease. Patients underwent opthamolmologic examination and multimodal studies (fundus camera with visucam 524, Zeiss, angiotomography, Cirrus 500, Zeiss, and eletroretinogram, Roland Consult). Genomic DNA was isolated from peripheral blood leukocytes using QIAamp DNA Mini Kit, following the manufacturer instructions. The entire BEST1 coding sequence (11 exons) was amplified by PCR using pairs of primers derived from the BEST1 published sequence (Ensembl ID 00000301774). Direct automated Sanger sequencing of coding exons of BEST1 was performed with the BigDyeTerminator 3.1 Cycle Sequencing kit. All samples were analyzed on an ABI 3130 Genetic Analyzer and sequences from patients’ DNA were manually compared against the respective reference sequences.

Results : Four patients and eight eyes of the same family member. The average age was 27.25 years. The average visual acuity was LogMAR 0.1. 37.5% in vitelloruptive stage and 62.5% in pseudohipopion stage. DNA genetic analysis revealed a heterozygous pathogenic variant in exon 8 of the BEST1 gene. The presenting stages were pseudohypopion and vitelloruptive. The most common finding on tomography was hyporreflective space and only on patient had choroidal neovascularization which was not associated with low visual acuity or exudation and was only evidence by angiotomography. All patients had preservation of the external limiting membrane and the ellipsoid zone. In addition, hyperreflective spots and choroidal vessel dilatation was a finding without visual repercussions. Ardens index was less than 1.8 in all cases.

Conclusions : The c886A>G mutation generates changes and anatomical disorganization, associated with preservation of the external limiting membrane and the ellipsoid zone, which implies that its phenotype in different stages is associated with less impact on visual acuity.

This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.

 

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