Preising, M. N. and Paunescu, K. and Friedburg, C. and Lorenz, Birgit (2007) Genetic and clinical heterogeneity in LCA patients. The end of uniformity. OPHTHALMOLOGE, 104 (6). pp. 490-498. ISSN 0941-293X, 1433-0423
Full text not available from this repository. (Request a copy)Abstract
Background. Leber congenital amaurosis (LCA) usually describes patients with severely reduced vision due to a retinal dystrophy in early childhood. Methods. In 135 families in a case series with severely reduced vision due to a retinal dystrophy in early childhood a complete ophthalmologic examination was extended by two-color threshold perimetry, fundus autofluorescence (FAF), und optical coherence tomography (OCT). Mutation screening included AIPL1, CRB1, CRX, GUCY2D, LRAT, RPE65, RPGRIP, and TULP1. Results. GUCY2D mutations caused the most severe phenotype with severely reduced vision from birth but unremarkable fundus appearance. RPE65 mutations were correlated with an obvious lack of FAF. CRB1 mutations showed a significantly thickened retina on OCT. CRX mutations were associated with a progressive form of cone-rod dystrophy. Conclusion. A genotype-phenotype correlation for selected genes allows an optimized strategy for the molecular genetic work-up.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | LEBER CONGENITAL AMAUROSIS; SEVERE RETINAL DYSTROPHY; RECESSIVE RETINITIS-PIGMENTOSA; OPTICAL COHERENCE TOMOGRAPHY; RPE65 MUTATIONS; GUANYLATE-CYCLASE; RDH12 MUTATIONS; CRB1 GENE; CHILDHOOD; DEGENERATION; Leber congenital amaurosis; genotype-phenotype correlation; early-onset severe retinal dystrophy; genetic heterogeneity; clinical heterogeneity |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 08 Dec 2020 16:21 |
| Last Modified: | 08 Dec 2020 16:21 |
| URI: | https://pred.uni-regensburg.de/id/eprint/32704 |
Actions (login required)
 |
View Item |
