Hereditary vitreopathy.

Abstract

Heterogeneity has long been recognised within the spectrum of inherited vitreo-retinal disease but the extent of the variation has been less easy to quantify. This has been compounded by the small size and numbers of pedigrees available for the study, and the phenotypic variation both within and between pedigrees. Formation abnormalities in the vitreous architecture have, in the past, been eclipsed by classifications based on general skeletal and morphological differences. Stickler syndrome is the commonest disorder within the spectrum of hereditary vitreous abnormalities and many of the recent published advances relate to this. Stickler syndrome has been subclassified on the basis of vitreo-retinal phenotype: type 1 families with a characteristic congenital vitreous anomaly show linkage without recombination to markers at the COL2A1 locus; type 2 families with different congenital vitreo-retinal phenotypes are not linked to COL2A1. A recent report identifies the COL11A2 mutation in a Dutch pedigree with systemic features of Stickler syndrome but without ocular involvement. Others have implicated COL11A1 in a type 2 Stickler syndrome pedigree with ocular abnormalities. Both COL11A1 and COL11A2 are expressed in cartilage, but on the basis of studies of bovine vitreous it is likely that only the alpha 1(XI) chain encoded by COL11A1 is present in vitreous. This would be consistent with the hypothesis that mutations in the genes encoding collagen XI can give rise to manifestations of Stickler syndrome, but of these, only mutations in COL11A1 will give the full syndrome including the vitreo-retinal features.