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Keratoconus is a non-inflammatory degenerative corneal disease characterised by a localised region of stromal thinning spatially associated with a cone-shaped deformation of the surface. It is most commonly an isolated sporadic condition.1 Recent reports demonstrate genetic mapping to chromosomes 16q, 21q, and 18p, as well as association of HLA-A26, B40, and DR 9.2,3 Keratoconus has been reported in clinical contexts with 36 other multisystem disorders.1,2 We describe the first two cases of keratoconus in association with Woodhouse Sakati syndrome.
Case report
Two sisters (aged 14 years and 18 years) presented with history of bilateral progressive loss of vision over 8 years. Progeny of a first degree consanguineous marriage, they were the only members in the family of six siblings with a diagnosis of Woodhouse Sakati syndrome. Both sisters exhibited variable manifestations of the syndrome including hypogonadism, …
Footnotes
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Competing interests: none declared