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.