Genetic counseling in congenital eye disorders.
In the evaluation of the genetic heterogeneity of congenital cataract and in establishing the nosologic diagnosis the cooperation of the ophthalmologist and geneticist is necessary. The importance of ophthalmologic syndromology for genetic counseling is shown in cases of Fraser's syndrome (McKusick No. 21,900), Usher's syndrome (N. 27,690), a syndrome involving acromegaly, cutis verticis gyrata and corneal leukoma (No. 10,210), a syndrome with congenital cataract, microphthalmia and nystagmus (No. 21,255), and a presumably new dominant hereditary cataract-vitiligo syndrome.
D000015:Abnormalities, Multiple / Q000235:genetics; D000328:Adult; D002386:Cataract / Q000151:congenital / Q000235:genetics; D002609:Chediak-Higashi Syndrome / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D005124:Eye Abnormalities; D005128:Eye Diseases / Q000151:congenital* / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005808:Genes, Recessive; D005817:Genetic Counseling; D006801:Humans; D008297:Male; D010375:Pedigree; D013577:Syndrome