Nonleaking cystoid macular edema in Cohen syndrome

Kinley D Beck; Robert W Wong; James B Gibson; C Armitage Harper 3rd

doi:10.1016/j.jaapos.2018.05.010

Nonleaking cystoid macular edema in Cohen syndrome

J AAPOS. 2019 Feb;23(1):38-39.e1. doi: 10.1016/j.jaapos.2018.05.010. Epub 2018 Aug 23.

Authors

Kinley D Beck¹, Robert W Wong², James B Gibson³, C Armitage Harper 3rd⁴

Affiliations

¹ Department of Ophthalmology, University of Texas Health San Antonio, San Antonio, Texas.
² Austin Retina Associates, Austin, Texas; Department of Surgery and Perioperative Services, Dell Medical School, University of Texas Austin, Austin, Texas.
³ Department of Pediatrics, Dell Medical School, University of Texas Austin, Austin, Texas; Dell Children's Medical Center of Central Texas, Austin, Texas.
⁴ Department of Ophthalmology, University of Texas Health San Antonio, San Antonio, Texas; Austin Retina Associates, Austin, Texas; Department of Surgery and Perioperative Services, Dell Medical School, University of Texas Austin, Austin, Texas. Electronic address: caharper@austinretina.com.

PMID: 30144585
DOI: 10.1016/j.jaapos.2018.05.010

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.

Publication types

Case Reports
Review

MeSH terms

Child
Child, Preschool
Developmental Disabilities / complications
Developmental Disabilities / diagnostic imaging
Female
Fingers / abnormalities*
Fingers / diagnostic imaging
Humans
Intellectual Disability / complications
Intellectual Disability / diagnostic imaging*
Macular Edema / complications
Macular Edema / diagnostic imaging*
Microcephaly / complications
Microcephaly / diagnostic imaging*
Muscle Hypotonia / complications
Muscle Hypotonia / diagnostic imaging*
Myopia / complications
Myopia / diagnostic imaging*
Obesity / complications
Obesity / diagnostic imaging*
Retinal Degeneration / complications
Retinal Degeneration / diagnostic imaging*
Tomography, Optical Coherence
Vision Disorders / diagnostic imaging
Vision Disorders / etiology
Visual Acuity / physiology

Supplementary concepts

Cohen syndrome