Pleiotropy of a Stickler syndrome genotype.

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.