Vitreous phenotyping distinguishes Wagner syndrome from ocular-only Stickler syndrome: a case series

Wagner syndrome and ocular-only Stickler syndrome are distinct hereditary vitreoretinopathies. They are frequently confused because they share features of congenital myopia, abnormal vitreous architecture, and retinal detachment without systemic manifestations. Indeed, the confusing and misleading diagnosis of ‘Wagner-Stickler syndrome’ still exists in some widely used databases in current use. The original Wagner syndrome pedigree did not suffer from retinal detachment [ 1 ], but such cases have since been reported [ 2 ]. Wagner syndrome is caused by splice variants in the versican ( VCAN ) gene, which encodes a major proteoglycan component in the vitreous [ 2 ]. Ocular-only Stickler syndrome typically arises from alternatively spliced variants of Type II collagen ( COL2A1 ) and exhibits a characteristic membranous vitreous anomaly [ 3 ]. Accurate distinction is critical for genetic counselling and surgical planning.