A diagnosis of type 1 Stickler syndrome was made on the basis of vitreous phenotype and confirmed on molecular genetic analysis as a single base change at the exon 40/intron 40 boundary of the COL2A1 gene, c.2679 + 5 G > C, resulting in the abolition of the splice donor site leading to aberrant splicing. The gene discussed is COL2A1; the disease is Stickler syndrome type 1.