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Novel presenting phenotype in a child with autosomal dominant Best's vitelliform macular dystrophy

Abdalla, Yasmine F., De Salvo, Gabriella, Elsahn, Ahmad and Self, James E. (2017) Novel presenting phenotype in a child with autosomal dominant Best's vitelliform macular dystrophy Ophthalmic Surgery, Lasers and Imaging Retina, 48, (7), pp. 580-585. (doi:10.3928/23258160-20170630-10).

Record type: Article


Best's macular dystrophy (BMD) usually manifests with visual failure in the frst or second decade of life; however, there is a large variability in expressivity of the disease, and some patients have no manifestation other than a pathological electro-oculogram (EOG). Autosomal dominant Best's vitelliform macular dystrophy (ADBVMD) has a very specifc phenotype that varies with the stage of the disease. In recent years, the authors have seen description of another clinical entity known as autosomal recessive BMD. Herein, the authors describe a 5-year-old girl referred from a peripheral hospital for investigation with a positive family history of BMD. Clinical fndings included best-corrected visual acuity of 0.325 and 0.300 in the right and left eyes, respectively, by Sonksen logMar test, full color vision, normal orthoptic examination, and a small degree of hyperopia consistent with age. Macular optical coherence tomography (OCT) showed intraretinal fluid cysts and EOG showed reduced Arden ratio. Genetic testing was done for the proband and her father, who were found to be heterozygous for c.37C>T p. (Arg13Cys). The proband's younger sister will be reviewed and followed up once of age. The authors identifed a new phenotype of AD-BVMD; although this is a single patient, more young children with BMD can now be scanned with the availability of hand-held OCT with better knowledge of the phenotype.

Other Final BEST1 paper - Accepted Manuscript
Restricted to Repository staff only until 7 June 2018.
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Accepted/In Press date: 7 March 2017
e-pub ahead of print date: 24 July 2017
Published date: July 2017
Keywords: BEST1, Best disease, Retinal Imaging


Local EPrints ID: 412479
ISSN: 2325-8160
PURE UUID: f2dd5d02-460f-46eb-9ac5-8d3770d0f606
ORCID for James E. Self: ORCID iD

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Date deposited: 07 Aug 2017 13:44
Last modified: 07 Aug 2017 13:44

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Author: Yasmine F. Abdalla
Author: Gabriella De Salvo
Author: Ahmad Elsahn
Author: James E. Self ORCID iD

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