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

J AAPOS. 2007 Oct;11(5):431-7. doi: 10.1016/j.jaapos.2007.01.118. Epub 2007 Mar 26.


Purpose: To review the clinical features of reported cases of Cohen syndrome with a focus on ophthalmic features and report nine new cases.

Methods: Retrospective case series and literature review.

Results: 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.

Conclusions: 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 VPS13B (COH1) gene mutations, no minimal clinical diagnostic criteria are widely accepted at this time.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple*
  • Adult
  • Child
  • Child, Preschool
  • Electroretinography
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Microcephaly / genetics*
  • Muscle Hypotonia / genetics*
  • Myopia, Degenerative / diagnosis
  • Myopia, Degenerative / genetics*
  • Obesity / genetics*
  • Refraction, Ocular
  • Retinal Dysplasia / diagnosis
  • Retinal Dysplasia / genetics*
  • Retrospective Studies
  • Syndrome