• Do Ah Kim and Joonhyung Kim.
• Department of Ophthalmology, CHA Bundang Medical Center, CHA University, Seongnam, Republic of Korea.
• Medicine (Baltimore). 2023 Nov 17; 102 (46): e35945e35945.

RationaleCohen syndrome is a rare genetic disorder that can cause various symptoms, including ophthalmic manifestations that can significantly impact a patient's visual health and quality of life.Patient ConcernsWe present the case of a 12-year-old boy diagnosed with Cohen syndrome who exhibited retinal degeneration and macular edema but could not express ophthalmic symptoms due to a developmental disability.DiagnosesThe patient was diagnosed with Cohen syndrome by a heterozygous mutation in the VPS13B gene by whole exome sequencing and referred to ophthalmology for an ophthalmic examination.InterventionOphthalmologic tests, including visual acuity, intraocular pressure, slit lamp examination, fundus photography, and optical coherence tomography, were performed.OutcomesVisual acuity and intraocular pressure were not measured due to poor cooperation, and no abnormal findings were observed on the slit lamp examination. However, peripheral retinal degeneration was observed in the fundus examination, and cystoid macular edema was observed in both eyes on optical coherence tomography.LessonsRegular ophthalmologic examination is important for patients with Cohen syndrome, especially those with developmental disabilities who may not be able to express their symptoms. Clinicians should be aware of the potential ophthalmologic manifestations of Cohen syndrome and the importance of timely diagnosis and management.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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