title: Therapeutical and genetical aspects of congenital glaucomas.
abstract: Therapy for congenital glaucoma is primarily surgical. We have investigated 249 cases who have undergone trabeculectomy. There was a 79% success rate as regards to control of the IOP. Vision could be saved among the patients who had applied relatively early. At the end of the follow up which was 5 years IOP remained normal in the successful group. All the patients and their families were analysed genetically by their pedigrees and caryotypes. An autosomal recessive pattern with variable penetrance was found. The majority of the patients came from families with consanguineous marriages giving a rate of 66.6%. It was suggested that the course of the disease is highly affected by and related to parental consanguinity. An early age of onset and an accelerated clinical course could be well correlated.
authors.affiliation: Ankara University, Faculty of medicine Genetic Department, Turkey.
authors.forename: M E
authors.initials: ME
authors.lastname: Turaçli
authors.forename: S G
authors.initials: SG
authors.lastname: Aktan
authors.forename: B S
authors.initials: BS
authors.lastname: Sayli
authors.forename: N
authors.initials: N
authors.lastname: Akarsu
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D005260:Female; D005500:Follow-Up Studies; D005901:Glaucoma / Q000151:congenital* / Q000235:genetics / Q000601:surgery*; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007429:Intraocular Pressure; D007621:Karyotyping; D008297:Male; D010375:Pedigree; D014130:Trabeculectomy; D016896:Treatment Outcome