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X-Linked Ocular Albinism (XLOA)

Last updated Feb. 27, 2018

Approved by: Maulik P. Purohit MD, MPH

The topic X-Linked Ocular Albinism you are seeking is a synonym, or alternative name, or is closely related to the medical condition Ocular Albinism.

Quick Summary:

  • Ocular Albinism (OA) is a rare genetic disorder, characterized by the partial or complete absence of the pigment melanin, in the eyes of the affected individuals. The reduced or absent melanin in the eyes affects vision in those with OA
  • Ocular Albinism Type 1 is the most common form of the disorder. OA is predominantly reported in males, since it follows an X-linked inheritance pattern
  • Having a family history of OA is a significant risk factor for being born with the disorder. Ocular Albinism is known to be caused by mutation(s) in the GPR143 gene. This gene regulates the formation of melanosomes, which are the sites of melanin synthesis
  • Loss of pigmentation in the eyes, sensitivity to light, and reduced vision acuity are some common symptoms of the condition. A diagnosis of the condition is undertaken based on the presenting symptoms, vision exam, and genetic tests, if necessary
  • Protecting the eyes from sunlight and corrective surgery for vision defects are the main treatment modalities considered for this disorder. Ocular Albinism is a genetic condition, and is therefore, not preventable. However, the prognosis is good in most cases, and the affected individuals can lead a normal quality of life

Please find comprehensive information on Ocular Albinism regarding definition, distribution, risk factors, causes, signs & symptoms, diagnosis, complications, treatment, prevention, prognosis, and additional useful information HERE.

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: April 27, 2017
Last updated: Feb. 27, 2018