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Corneal ectasia associated with Cohen syndrome: a role for COH1 in corneal development and maintenance?
  1. A Khan1,
  2. K Chandler2,
  3. D Pimenides3,
  4. G C M Black4,
  5. F D C Manson5
  1. 1Academic Unit of Eye and Vision Science, Manchester Royal Eye Hospital, School of Medicine, University of Manchester, Manchester, UK
  2. 2Academic Unit of Medical Genetics, School of Medicine, University of Manchester and Regional Genetic Service, St Mary’s Hospital, Manchester, UK
  3. 3Academic Unit of Eye and Vision Science, Manchester Royal Eye Hospital, School of Medicine, University of Manchester, Manchester, UK
  4. 4Academic Unit of Eye and Vision Science, Manchester Royal Eye Hospital, and Academic Unit of Medical Genetics, School of Medicine, University of Manchester, Manchester, UK
  5. 5Academic Unit of Eye and Vision Science, Manchester Royal Eye Hospital, Academic Unit of Medical Genetics, School of Medicine, and Centre for Molecular Medicine, Faculty of Medical and Health Sciences, Stopford Building, University of Manchester, Manchester, UK
  1. Correspondence to: Professor G C M Black Department of Clinical Genetics, Central Manchester and Manchester Children’s University Hospitals NHS Trust, St Mary’s Hospital, Hathersage Road, Manchester M13 0JH, UK; gblack{at}manchester.ac.uk

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Cohen syndrome1 is a rare autosomal recessive condition with a pleiotropic phenotype. Ocular findings of high myopia and early onset retinochoroidal dystrophy are almost universal. The extraocular manifestations include developmental delay, a typical facial gestalt, and granulocytopenia. Elsewhere, we have described the identification of the COH1 gene which is mutated in this condition2 and have reported an extensive genotype-phenotype screen.3

We report a case of corneal ectasia in a patient with confirmed Cohen syndrome, who is now 50 years of age. She presented at age 17 with high myopia, astigmatism, and retinochoroidal dystrophy; refractive error was −11.50/+3.50@90 in the right eye and −13.00/+3.00@80 in the left. By the age of 30 she had developed posterior subcapsular cataracts associated with a mild progression of myopia (−16.00/+4.00@90 in the right …

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