Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB)

Christina Gerth, Robert Zawadzki, John S Werner, Elise Héon

Research output: Contribution to journalArticle

38 Citations (Scopus)

Abstract

The objective of the paper is to study the retinal microstructure and function in a patient with autosomal recessive bestrophinopathy (ARB). Retinal function and morphology assessment in a patient diagnosed with a biallelic mutation in the BEST1 gene (heterozygote mutations: Leu88del17 and A195V) included: full-field electroretinogram (ffERG) and multifocal electroretinogram (mfERG), electro-oculogram (EOG) testing, and imaging with a high-resolution Fourier-domain optical coherence tomography (Fd-OCT) system (UC Davis Medical Center; axial resolution: 4.5 μm, acquisition speed: 9 frames/s, 1,000 A-scans/frame) combined with a flexible scanning head (Bioptigen Inc.). The 11-year old asymptomatic boy showed a well-demarcated retinopathy with deposits. Functional assessment revealed normal visual acuity, reduced central mfERG responses, delayed rod and rod-cone b-wave ffERG responses, and reduced light rise in the EOG. Fd-OCT demonstrated RPE deposits, photoreceptor detachment, elongated and thickened photoreceptor outer segments, but preserved inner retinal layers. In conclusion, ARB associated retinal dystrophy shows functional and morphological changes that overlap with classic Best disease. For the first time, high-resolution imaging provided in vivo evidence of RPE and photoreceptor involvement in ARB.

Original languageEnglish (US)
Pages (from-to)239-246
Number of pages8
JournalDocumenta Ophthalmologica
Volume118
Issue number3
DOIs
StatePublished - 2009

Fingerprint

Optical Coherence Tomography
Retinal Photoreceptor Cell Inner Segment
Vitelliform Macular Dystrophy
Retinal Dystrophies
Mutation
Vertebrate Photoreceptor Cells
Heterozygote
Visual Acuity
Head
Light
Genes
Bestrophinopathy

Keywords

  • ARB
  • Autosomal recessive bestrophinopathy
  • Electro-oculogram
  • Fourier-domain OCT
  • Multifocal ERG

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems
  • Physiology (medical)

Cite this

Detailed analysis of retinal function and morphology in a patient with autosomal recessive bestrophinopathy (ARB). / Gerth, Christina; Zawadzki, Robert; Werner, John S; Héon, Elise.

In: Documenta Ophthalmologica, Vol. 118, No. 3, 2009, p. 239-246.

Research output: Contribution to journalArticle

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