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/lp/karger/genetic-counseling-in-congenital-eye-disorders-u202FOetbt
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- Publisher
- Karger
- Copyright
- © 1983 S. Karger AG, Basel
- ISSN
- 0030-3755
- eISSN
- 1423-0267
- DOI
- 10.1159/000309321
- Publisher site
- See Article on Publisher Site
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 (No. 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.
Journal
Ophthalmologica – Karger
Published: Jan 1, 2010
Keywords: Ophthalmologic syndromology; Genetic heterogeneity