Nonleaking cystoid macular edema in Cohen syndrome

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

Resultado de la investigación: Articlerevisión exhaustiva

9 Citas (Scopus)

Resumen

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.

Idioma originalEnglish (US)
Páginas (desde-hasta)38-39.e1
PublicaciónJournal of AAPOS
Volumen23
N.º1
DOI
EstadoPublished - feb 2019

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology

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