title: The role of molecular genetics in the prenatal diagnosis of retinal dystrophies.
abstract: Inherited retinal dystrophies are important causes of incurable blindness in developed countries. Advances in molecular genetics promise significant improvements in their management. Immediate benefits of present knowledge are presymptomatic and prenatal diagnosis in selected cases. To study the predictive power of these techniques a simulated genetic risk estimation was undertaken in a cone-rod retinal dystrophy pedigree known to be linked to chromosome 19. Using data on five fully informative, flanking DNA markers, phenotype was correctly assigned with only a 2% probability of error. If the two most closely linked markers were found to be uninformative, this error probability remained unchanged. Using genetic risk calculations and direct mutation detection many retinal dystrophies could now be identified by prenatal diagnosis.
authors.affiliation: Department of Clinical Ophthalmology, Moorfields Eye Hospital, London, UK.
authors.forename: K
authors.initials: K
authors.lastname: Evans
authors.forename: C Y
authors.initials: CY
authors.lastname: Gregory
authors.forename: A
authors.initials: A
authors.lastname: Fryer
authors.forename: J
authors.initials: J
authors.lastname: Whittaker
authors.forename: J
authors.initials: J
authors.lastname: Duvall-Young
authors.forename: A C
authors.initials: AC
authors.lastname: Bird
authors.forename: M R
authors.initials: MR
authors.lastname: Jay
authors.forename: S S
authors.initials: SS
authors.lastname: Bhattacharya
mesh_terms: D001766:Blindness / Q000209:etiology; D002874:Chromosome Mapping; D002888:Chromosomes, Human, Pair 19; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D005819:Genetic Markers; D006801:Humans; D009154:Mutation; D010375:Pedigree; D011237:Predictive Value of Tests; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012162:Retinal Degeneration / Q000175:diagnosis* / Q000235:genetics
chemical_list: D005819:Genetic Markers