[Autosome dominant vitreoretinal dystrophy with skeletal dysplasia in one generation].
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.
Lang
G E
GE
Augenklinik mit Poliklinik, Universität Erlangen-Nürnberg.
Laudi
B
B
Pfeiffer
R A
RA
D000550:Amblyopia / Q000175:diagnosis / Q000235:genetics; D002386:Cataract / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics*; D025063:Chromosome Disorders; D005097:Exostoses, Multiple Hereditary / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D009887:Ophthalmoscopy; D010375:Pedigree; D012162:Retinal Degeneration / Q000175:diagnosis / Q000235:genetics*; D012163:Retinal Detachment / Q000175:diagnosis / Q000235:genetics; D012600:Scoliosis / Q000175:diagnosis / Q000235:genetics; D058609:Visual Field Tests
Autosomal dominante vitreoretinale Dystrophie mit Skelettdysplasie in einer Generation.