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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 …
Ethical approval (MREC 00/8/15) has been granted for this work. The authors have no competing interests in the completion of this work.