Cohen syndrome: report of nine cases and review of the literature, with emphasis on ophthalmic features.

[cohen syndrome]

To review the clinical features of reported cases of Cohen syndrome with a focus on ophthalmic features and report nine new cases .Retrospective case series and literature review .Cohen syndrome is a rare autosomal-recessive condition with about 136 reported cases . The typical phenotype of Cohen syndrome is variable and includes mild to severe psychomotor retardation , microcephaly , a cheerful disposition , characteristic facial features , childhood hypotonia and joint laxity , truncal obesity , intermittent neutropenia , along with a progressive retinal dystrophy and refractive myopia . We present nine cases that illustrate the typical clinical features of the disorder at different ages , including a woman with the less common finding of ectopia lentis .Cohen syndrome remains underdiagnosed or misdiagnosed by ophthalmologists . Awareness of this condition among ophthalmologists is important because the typical systemic and ophthalmologic findings may lead to an accurate diagnosis and counseling . Although diagnostic criteria exist based on clinical studies of patients with confirmed VPS 13 B (COH 1 ) gene mutations , no minimal clinical diagnostic criteria are widely accepted at this time .