OCRL gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Inositol polyphosphate 5-phosphatase OCRL-1
  • Involved in phosphatidylinositol metabolism
Clinical phenotype
(OMIM phenotype no.)
Inheritance
  • X-linked recessive
Ocular features
  • Congenital cataracts
  • Glaucoma
Visual function
  • Progressive vision impairment from birth or early infancy
Systemic features
  • Intellectual disability
  • Hypotonia
  • Renal Fanconi syndrome
Key investigations
  • Slit-lamp microscopy: lens opacities
  • Genetic testing: identification of OCRL mutations
Management
  • Early diagnosis and surgical intervention for cataract removal
  • Management of glaucoma and renal symptoms
Therapies under research
  • None currently specified

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References

  1. Pasternack SM, Böckenhauer D, Refke M, Tasic V, Draaken M, Conrad C, Born M, Betz RC, Reutter H, Ludwig M. A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the “O” in OCRL. Klinische Pädiatrie. 2013 Jan;225(01):29-33.

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Updated on July 8, 2024
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