Purpose: Vitreoretinopathies are disorders characterized by an abnormal vitreous gel structure and associated retinal changes. The authors report a pedigree with vitreous changes characteristic of the vitreoretinopathies, but with retinal pigment epithelial changes, electroretinographic abnormalities, and a clinical course distinct from previously described entities. Methods: Twenty-six family members were examined. Complete ophthalmologic examinations, electroretinography, and perimetry were performed on patients who were at genetic risk for the disease. Particular attention was given to vitreous morphology and examination of the retina and retinal pigment epithelium (RPE). Results: Fifteen individuals affected with an autosomal dominant vitreoretinal degeneration were identified. The disease is characterized by nyctalopia, progressive visual field loss, marked vitreous syneresis, progressive RPE atrophy, and combined traction-rhegmatogenous retinal detachments (11 patients). Thinning or 'erosion' of the RPE in younger patients permits increased visualization of the choroidal vessels. In advanced conditions, equatorial areas are seen that appear clinically devoid of RPE, with extensive posterior atrophy in older patients. Diffuse rod-cone dysfunction is demonstrated by electroretinography. High myopia, epiphyseal dysplasia, orofacial anomalies, and systemic manifestations characteristic of other vitreoretinopathies are not present. Conclusion: The authors describe an entity clinically distinct from other vitreoretinopathies. The disease is characterized by pronounced vitreous abnormalities, complicated retinal detachments, and a progressive pigmentary retinopathy. The most unusual and constant feature is the progressive change in RPE with concurrent visual field constriction and electroretinographic abnormalities. Because the RPE initially seems normal and progressively thins or 'erodes' in the equatorial periphery, the descriptive name 'erosive' vitreoretinopathy is proposed.
ASJC Scopus subject areas