Pleiotropy of a Stickler syndrome genotype

Eur J Ophthalmol. 2022 Nov;32(6):NP10-NP12. doi: 10.1177/11206721211035611. Epub 2021 Jul 27.


Purpose: To report a case of pleiotropy in the COL2A1 gene typically associated with Stickler Syndrome Type 1.

Observations: A patient with a confirmed mutation of the COL2A1 gene presented with an isolated retinitis pigmentosa phenotype.

Conclusions: The mutated COL2A1 gene in Stickler Syndrome Type 1 represents a site of pleiotropy, highlighting a change in phenotype across the same genotype potentially due to tissue alternative splicing.

Keywords: Rod-cone dystrophies (retinitis pigmentosa); genetics; macular and RPE dystrophies; retinal degenerations associated with systemic disease; retinitis pigmentosa.

Publication types

  • Case Reports

MeSH terms

  • Arthritis
  • Connective Tissue Diseases* / diagnosis
  • Connective Tissue Diseases* / genetics
  • Eye Diseases, Hereditary*
  • Genotype
  • Hearing Loss, Sensorineural* / diagnosis
  • Hearing Loss, Sensorineural* / genetics
  • Humans
  • Mutation
  • Pedigree
  • Phenotype
  • Retinal Detachment* / diagnosis
  • Retinal Detachment* / genetics

Supplementary concepts

  • Stickler syndrome, type 1