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  • Title: [Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation].
    Author: Lang GE, Laudi B, Pfeiffer RA.
    Journal: Klin Monbl Augenheilkd; 1991 Mar; 198(3):207-14. PubMed ID: 2056740.
    Abstract:
    We report on ten patients of four generations with autosomal dominant vitreoretinal dystrophy with different manifestation. The ophthalmological findings are retinal detachment, retinal holes, retinoschisis, lattice and snowflake degeneration, vitreoretinal adhesions, chorioretinal atrophy and peripheral pigment epithelial changes. Two sisters show growth retardation with skeletal anomalies most likely brachyolmia.
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