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Br J Ophthalmol 90:116-117 doi:10.1136/bjo.2005.080101
  • Letter

Woodhouse Sakati syndrome associated with bilateral keratoconus

  1. S A Al-Swailem,
  2. A A Al-Assiri,
  3. A A Al-Torbak
  1. Anterior Segment Division, Department of Ophthalmology, King Khaled Eye Specialist Hospital, Riyadh, Kingdom of Saudi Arabia
  1. Correspondence to: Samar A Al-Swailem MD, Anterior Segment Division, King Khaled Eye Specialist Hospital, PO Box 7191, Riyadh 11462, Kingdom of Saudi Arabia; angelofsa{at}yahoo.com
  • Accepted 12 August 2005

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, …