Ocular manifestations of genetic and development diseases.
Significant advances were reported this year in the identification of the chromosomal location of mutated genes on the 13 and 6 chromosomes which cause forms of autosomal dominant Stargardt's macular dystrophy. Observations in monozygotic twins with age-related macular dystrophy were described. Mitochondrial DNA mutations in Cubans with optic and peripheral neuropathy were reported. A new autosomal dominant proximal myotonic myopathy was described. Persistence of the tunica vasculosa lentis was suggested as a helpful sign of congenital myotonic dystrophy. The panoply of ocular findings in acromesomelic dysplasia were presented. Genetic characterization of the ocular findings in Duchenne type and Becker's muscular dystrophy was reported. Finally, a new syndrome of autosomal dominant cerebellar ataxia with retinal degeneration was described.
Diamond
G R
GR
Medical College of Pennsylvania, Philadelphia, USA.
D002869:Chromosome Aberrations / Q000235:genetics; D025063:Chromosome Disorders; D002658:Developmental Disabilities / Q000150:complications* / Q000235:genetics; D005128:Eye Diseases / Q000209:etiology*; D015785:Eye Diseases, Hereditary / Q000150:complications* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn