Optical coherence tomography findings in Cohen syndrome

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• Cohen syndrome is a rare genetic disorder characterized by developmental delay, distinctive facial features, myopia, and retinal degeneration.
• Ocular manifestations are significant but often under-recognized as key diagnostic indicators.

Purpose of the Study:

• To describe and analyze optical coherence tomography (OCT) findings in patients with Cohen syndrome.
• To evaluate the potential of OCT-identified retinal abnormalities as distinguishing features for Cohen syndrome diagnosis.

Main Methods:

• Retrospective analysis of OCT scans from 4 patients diagnosed with Cohen syndrome.
• Inclusion of longitudinal follow-up data for 2 patients.
• Correlation of OCT findings with clinical features.

Main Results:

• All 4 patients exhibited schisis-like changes in the inner retina with cystoid spaces.
• Diffuse outer retinal atrophy was observed, notably sparing the subfoveal region.
• Ophthalmologic findings, including those on OCT, prompted the diagnostic work-up in one patient.

Conclusions:

• Characteristic retinal abnormalities visualized by OCT are consistently present in Cohen syndrome.
• OCT imaging may serve as a crucial tool for identifying distinguishing features of Cohen syndrome.
• Early recognition of these retinal signs can facilitate timely diagnosis and management.