Ocular manifestations of genetic and developmental diseases.
Ophthalmic genetics is a rapidly expanding field that includes both clinical and basic sciences. Clinical descriptions of syndromes and new diagnostic testing both reflect the increase in knowledge and technology of molecular biology. Technologic advances have resulted in old diseases being described in new ways and being attributed to new pathophysiologic mechanisms. This review is intended to update the past year's contributions in ophthalmic genetics. Discussion is by disease type, which is familiar to most clinicians.
Hertle
R W
RW
Children's Hospital of Philadelphia, PA, USA.
D002648:Child; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002658:Developmental Disabilities / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D015785:Eye Diseases, Hereditary / Q000175:diagnosis / Q000209:etiology / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D008297:Male; D008967:Molecular Biology / Q000379:methods; D010375:Pedigree; D013577:Syndrome