ABSTRACT
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.
Subject(s)
Eye Abnormalities , Eye Diseases/congenital , Genetic Counseling , Abnormalities, Multiple/genetics , Adult , Cataract/congenital , Cataract/genetics , Chediak-Higashi Syndrome/genetics , Child , Child, Preschool , Eye Diseases/genetics , Female , Genes, Dominant , Genes, Recessive , Humans , Male , Pedigree , SyndromeSubject(s)
Abnormalities, Multiple/genetics , Eye Abnormalities , Adolescent , Adult , Blindness/genetics , Child , Child, Preschool , Female , Genetic Counseling , Humans , Male , PedigreeABSTRACT
Examinations of retinograms of premature infants by the authors showed a time lag, changes in the wave form and reduction of the bioelectric activity of the retina (which shows itself very early) in association with the first signs of retrolental fibroplasia. In their experience the ERG becomes normal when the fibroplasia stabilizes itself early or when the retinal changes regress. In conclusion it must be stressed that with progression of the fibroplasia and retinal changes the biological activity of the retina also suffers.
