CHMP4B gene


Gene (OMIM No.)
Function of gene/protein
  • Charged multivesicular body protein 4B
  • Involved in the formation of multivesicular bodies and endosomal sorting
Clinical phenotype
(OMIM phenotype no.)
  • Age-related macular degeneration 5 (ARMD5) (#613784)
  • Autosomal dominant
Ocular features
  • Drusen
  • Geographic atrophy of the retina
Visual function
  • Progressive central vision loss
Systemic features
  • No associated systemic features
Key investigations
  • Fundus examination: drusen and retinal atrophy
  • Genetic testing: identification of CHMP4B mutations
  • Regular monitoring by an ophthalmologist
  • Use of low vision aids
Therapies under research
  • Investigational therapies for age-related macular degeneration

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  1. Shiels A, Bennett TM, Knopf HL, Yamada K, Yoshiura KI, Niikawa N, Shim S, Hanson PI. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. The American Journal of Human Genetics. 2007 Sep 1;81(3):596-606.

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Updated on July 8, 2024
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