title: The frequency of genetic eye diseases in a genetic counseling center.
abstract: The frequency of genetic eye diseases in a genetic counseling center: In this study the incidence of eye diseases of genetic origin in patients attending our genetic counseling center for a period of almost six years is documented. The frequency of retinitis pigmentosa, congenital cataracts, lens dislocation, microphthalmos, retinoblastoma, congenital glaucoma, congenital ptosis, degenerative myopia, strabismus, optic atrophy, various genetic metabolic diseases have been investigated, and the results are presented. Preventive approaches and prenatal diagnostic possibilities are discussed and the importance of genetic counseling is emphasized.
authors.affiliation: Department of Genetics, Istanbul University.
authors.forename: N
authors.initials: N
authors.lastname: Elçioğlu
authors.forename: M
authors.initials: M
authors.lastname: Elçioğlu
authors.forename: W
authors.initials: W
authors.lastname: Fuhrmann
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005124:Eye Abnormalities / Q000235:genetics* / Q000517:prevention & control; D005128:Eye Diseases / Q000235:genetics* / Q000517:prevention & control; D005260:Female; D005787:Gene Frequency / Q000235:genetics*; D005817:Genetic Counseling; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D011296:Prenatal Diagnosis; D012307:Risk Factors