Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications

Alessandro Iannaccone; Natalie C Kerr; Tyson R Kinnick; Jorge I Calzada; Edwin M Stone

doi:10.1001/archophthalmol.2010.367

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Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications

Journal article

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Peer reviewed

Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications

Alessandro Iannaccone, Natalie C Kerr, Tyson R Kinnick, Jorge I Calzada and Edwin M Stone

Archives of ophthalmology (1960), Vol.129(2), pp.211-217

02/2011

DOI: 10.1001/archophthalmol.2010.367

PMID: 21320969

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Abstract

To report a child with early-onset autosomal recessive Best vitelliform macular dystrophy and compound heterozygous BEST1 mutations, the management of a choroidal neovascular membrane with intravitreal bevacizumab in the proband, the benefits of amblyopia therapy in the fellow eye, and the findings in the parents, carriers of heterozygous BEST1 mutations. A 5-year-old white girl presented with monocular visual acuity loss and bilateral vitelliform macular lesions. Her parents were also examined. Examinations included electro-oculograms (EOGs), electroretinograms, imaging studies, and BEST1 gene testing. Interventions included off-label treatment with intravitreal bevacizumab in the left eye and amblyopia therapy in the right eye. The proband presented with visual acuity of 20/200 OD with an atypical subfoveal vitelliform scar and 20/16 OS with asymptomatic vitelliform deposits. Subfoveal choroidal neovascularization developed at age 6 years, causing marked vision loss (20/200 OS). Visual acuity recovered to 20/20 OS after serial intravitreal bevacizumab injections. Amblyopia therapy improved visual acuity to 20/50 OD. The proband showed subnormal EOG Arden ratios and mild electroretinogram changes. Molecular testing showed missense BEST1 mutations (R141S and R141H) in the proband. Unlike dominant Best vitelliform macular dystrophy, in the heterozygous parents EOGs were normal and minimal autofluorescence changes were seen. Choroidal neovascularization treatment with bevacizumab was associated with vision restoration. Amblyopia treatment also yielded significant benefit. Patients presenting with vitelliform lesions should be screened for BEST1 mutations, even when parents have normal EOG and imaging results. Prompt recognition and treatment of choroidal neovascularization and amblyopia management effectively restores vision. Awareness and recognition of recessive inheritance permits correct diagnosis and counseling.

Electrooculography

Choroidal Neovascularization - diagnosis

Intravitreal Injections

Humans

Child, Preschool

Antibodies, Monoclonal - therapeutic use

Male

Chloride Channels - genetics

Mutation, Missense

Vascular Endothelial Growth Factor A - antagonists & inhibitors

Bevacizumab

Antibodies, Monoclonal, Humanized

Bestrophins

Choroidal Neovascularization - drug therapy

Vitelliform Macular Dystrophy - genetics

Angiogenesis Inhibitors - therapeutic use

Adult

Female

Eye Proteins - genetics

Visual Acuity - physiology

Amblyopia - therapy

Electroretinography

Tomography, Optical Coherence

Vitelliform Macular Dystrophy - diagnosis

Vitelliform Macular Dystrophy - drug therapy

Genes, Recessive

Pedigree

Choroidal Neovascularization - genetics

Details

Title: Subtitle: Autosomal recessive best vitelliform macular dystrophy: report of a family and management of early-onset neovascular complications
Creators: Alessandro Iannaccone - Hamilton Eye Institute, Department of Ophthalmology, University of Tennessee Health Science Center, 930 Madison Avenue, Memphis, TN 38163, USA. aiannacc@uthsc.edu
Natalie C Kerr
Tyson R Kinnick
Jorge I Calzada
Edwin M Stone
Resource Type: Journal article
Publication Details: Archives of ophthalmology (1960), Vol.129(2), pp.211-217
DOI: 10.1001/archophthalmol.2010.367
PMID: 21320969
NLM abbreviation: Arch Ophthalmol
ISSN: 0003-9950
eISSN: 1538-3601
Publisher: American Medical Association; United States
Grant note: Howard Hughes Medical Institute
Language: English
Date published: 02/2011
Academic Unit: Iowa Neuroscience Institute; Ophthalmology and Visual Sciences
Record Identifier: 9983980002902771

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