Wagner vitreoretinal degeneration. Follow-up of the original pedigree

Wagner disease belongs to a heterogeneous group of hereditary vitreoretinal degenerations. The authors have observed complications of this disorder that have not been reported before and therefore re-examined Wagner's original pedigree to further delineate the spectrum of the associated findings and its prognosis.

Sixty members of the family agreed to be examined. All had complete clinical eye examinations, 40 had dark adaptation studies as well as single-flash and Ganzfeld rod and cone electroretinography. Fluorescein angiograms were performed in selected patients.

Twenty-eight family members were affected. The most consistent finding was an empty vitreous cavity with avascular strands or veils. Chorioretinal atrophy and cataract increased with the patients' age and had occurred in all patients older than 45 years of age. Four patients had a history of a rhegmatogenous retinal detachment in one eye at a median age of 20 years. The authors observed peripheral tractional retinal detachments in 55% of eyes among patients older than 45 years. Glaucoma was present in ten eyes (18%), four of which showed neovascular glaucoma. Of all patients, 63% showed elevated rod and cone thresholds on dark adaptation, and 87% showed subnormal b-wave amplitudes of the rod- and of the cone system on the electroretinography.

Clinical expressivity of Wagner disease varies from unaffected carriers to bilateral blindness. Rhegmatogenous retinal detachment is observed infrequently, whereas peripheral traction retinal detachment, chorioretinal atrophy, and cataracts are present in most of the elderly affected individuals. Progression of the chorioretinal pathology is paralleled by electrophysiologic abnormalities.