Genetische und klinische Heterogenität bei LCA-Patienten: Das Ende der Einheitlichkeit
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.
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R190H occurs in a cluster of charged residues (RDQR) that forms the N-terminal cup flanking the transmembrane helix.
“The last mutation found in this region is substitution R190H [145]. It occurs in a cluster of charged residues (RDQR) that forms the N-terminal cup flanking the transmembrane helix.”
From Molecular Basis for Vitamin A Uptake and Storage in Vertebrates (2016) · cites this paper as [145]
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- Authors
- Preising, M. N., Paunescu, K., Friedburg, C., & Lorenz, B.
- Affiliations
- University Hospital Regensburg (DE)
- Corresponding author
- Lorenz, B.
- Venue
- Der Ophthalmologe
- Published
- 2007-06
- Volume
- 104
- Issue
- 6
- Pages
- 490-498
- ISSN
- 0941-293X (ISSN-L)
- 1433-0423
- OpenAlex
- W405272568
- Cited by
- 17
- References
- 45
- Citations by year
- 2025: 3 · 2024: 1 · 2022: 1 · 2020: 1 · 2019: 3 · 2017: 1 · 2016: 2 · 2014: 1 · 2012: 2
- FWCI
- 0.26
- Type
- journal article
- Language
- de
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Der Ophthalmologe (publishedVersion)
- University of Regensburg Publication Server (University of Regensburg) (acceptedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
- Keywords
- genetic heterogeneity, clinical heterogeneity, genotype-phenotype correlation, RPE65 mutations, AIPL1, LRAT, TULP1, fundus autofluorescence, optical coherence tomography, retinal degeneration, childhood blindness
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