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Letter to the Editor
Paucity of signs in X linked ocular albinism with a 700 kb deletion spanning the OA1 gene
  1. NEL T TIJMES,
  2. ARTHUR A B BERGEN
  1. Netherlands Ophthalmic Research Institute, Department of Ophthalmogenetics
  2. Amsterdam Zuid-Oost, Netherlands
  3. Netherlands Ophthalmic Research Institute, Department of Ophthalmogenetics, Amsterdam Zuid-Oost; Department of Ophthalmology, AMC, Amsterdam Zuid-Oost; and Erasmus University Rotterdam, Department of Epidemiology and Biostatics, Rotterdam, Netherlands
  1. PAULUS T V M DE JONG
  1. Netherlands Ophthalmic Research Institute, Department of Ophthalmogenetics
  2. Amsterdam Zuid-Oost, Netherlands
  3. Netherlands Ophthalmic Research Institute, Department of Ophthalmogenetics, Amsterdam Zuid-Oost; Department of Ophthalmology, AMC, Amsterdam Zuid-Oost; and Erasmus University Rotterdam, Department of Epidemiology and Biostatics, Rotterdam, Netherlands
  1. N T Tijmes, Netherlands Ophthalmic Research Institute, Department of Ophthalmogenetics, PO Box 12141, 1100 AC Amsterdam, Netherlands.

https://doi.org/10.1136/bjo.82.4.456b

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    Editor,—X linked ocular albinism (XLOA) shows great variability in clinical expression between affected males as well as in heterozygote females, even within one sibship. In 1995, the gene implicated in XLOA (OA1) was cloned.1 So far, we have found mutations in the OA1 gene in only 15% of the X linked ocular albinism patients (unpublished). Also Schiaffinio et al 2 revealed mutations in only one third of XLOA patients. Here, we report on the clinical features of a person with XLOA in which the entire OA1 gene was missing due to a submicroscopic interstitial deletion in the distal short arm of the X chromosome. The detailed molecular findings were published elsewhere.3 As Winship et al 4 suggested that XLOA and late …

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