The Montgomery lecture, 1977. Curious colobomata.
The humble coloboma has been taken as a model in an attempt to illustrate the benefit of continued observation and the application of increasingly sophisticated methods of investigation in the genetic and biochemical areas. The recent literature is reviewed with particular reference to publications dealing with colobomata and systemic malformations. Polycystic renal disease has been produced in animals and the application of the method used to a study of the eye may help to explain some of the unusual systemic clinical combinations which may occur in human cases. A simple factor may yet emerge to account for these anomalies rather than the multifactorial explanations previously postulated.
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D000368:Aged; D000818:Animals; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D003103:Coloboma / Q000235:genetics*; D005128:Eye Diseases / Q000150:complications; D005134:Eye Neoplasms / Q000150:complications; D005260:Female; D006801:Humans; D007674:Kidney Diseases / Q000150:complications; D008266:Macula Lutea / Q000002:abnormalities; D008297:Male; D008875:Middle Aged; D009436:Neural Tube Defects; D009456:Neurofibromatosis 1 / Q000150:complications; D013577:Syndrome; D014602:Uvea / Q000002:abnormalities