Nonleaking cystoid macular edema in Cohen syndrome

Kinley D. Beck; Robert W. Wong; James B. Gibson; C. Armitage Harper

doi:10.1016/j.jaapos.2018.05.010

Nonleaking cystoid macular edema in Cohen syndrome

Kinley D. Beck, Robert W. Wong, James B. Gibson, C. Armitage Harper

Department of Ophthalmology

Research output: Contribution to journal › Article › peer-review

9 Scopus citations

Abstract

An 11-year-old girl with a history of neutropenia, developmental delay, hypotonia, and intellectual disability was diagnosed with Cohen syndrome after genetic testing discovered homozygous mutation in the VPS13B gene. She was referred to a retinal specialist with a chief complaint of decreased peripheral vision. On examination, decreased visual acuity, pigmentary changes, and nonleaking cystoid macular edema were present in both eyes.

Original language	English (US)
Pages (from-to)	38-39.e1
Journal	Journal of AAPOS
Volume	23
Issue number	1
DOIs	https://doi.org/10.1016/j.jaapos.2018.05.010
State	Published - Feb 2019

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Ophthalmology

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10.1016/j.jaapos.2018.05.010

Cite this

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abstract = "An 11-year-old girl with a history of neutropenia, developmental delay, hypotonia, and intellectual disability was diagnosed with Cohen syndrome after genetic testing discovered homozygous mutation in the VPS13B gene. She was referred to a retinal specialist with a chief complaint of decreased peripheral vision. On examination, decreased visual acuity, pigmentary changes, and nonleaking cystoid macular edema were present in both eyes.",

author = "Beck, {Kinley D.} and Wong, {Robert W.} and Gibson, {James B.} and Harper, {C. Armitage}",

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AB - An 11-year-old girl with a history of neutropenia, developmental delay, hypotonia, and intellectual disability was diagnosed with Cohen syndrome after genetic testing discovered homozygous mutation in the VPS13B gene. She was referred to a retinal specialist with a chief complaint of decreased peripheral vision. On examination, decreased visual acuity, pigmentary changes, and nonleaking cystoid macular edema were present in both eyes.

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Nonleaking cystoid macular edema in Cohen syndrome

Abstract

ASJC Scopus subject areas

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