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 original||English (US)|
|Publicación||Journal of AAPOS|
|Estado||Published - feb 2019|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health