COL18A1 gene

Overview

Gene (OMIM No.)
Function of gene/protein
  • Collagen, type XVIII, alpha 1
  • Involved in the structural integrity of basement membranes
Clinical phenotype
(OMIM phenotype no.)
  • Knobloch syndrome 1 (KNO1) (#267750)
Inheritance
  • Autosomal recessive
Ocular features
  • High myopia
  • Retinal detachment
  • Vitreoretinal degeneration
Visual function
  • Progressive vision impairment due to retinal issues
Systemic features
  • Occipital encephalocele
  • Craniofacial anomalies
Key investigations
  • Fundus examination: vitreoretinal changes
  • Genetic testing: identification of COL18A1 mutations
Management
  • Surgical intervention for retinal detachment
  • Multidisciplinary approach including neurology and ophthalmology
Therapies under research
  • None currently specified

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References

  1. Zhang LS, Li HB, Zeng J, Yang Y, Ding C. Knobloch syndrome caused by homozygous frameshift mutation of the COL18A1 gene in a Chinese pedigree. International Journal of Ophthalmology. 2018;11(6):918.
  2. Suri F, Yazdani S, Chapi M, Safari I, Rasooli P, Daftarian N, Jafarinasab MR, Ghasemi Firouzabadi S, Alehabib E, Darvish H, Klotzle B. COL18A1 is a candidate eye iridocorneal angle-closure gene in humans. Human molecular genetics. 2018 Nov 1;27(21):3772-86.

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Updated on July 8, 2024
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