Schatz, Patrik and Preising, Markus and Lorenz, Birgit and Sander, Birgit and Larsen, Michael and Eckstein, Christoph and Rosenberg, Thomas (2010) LACK OF AUTOFLUORESCENCE IN FUNDUS ALBIPUNCTATUS ASSOCIATED WITH MUTATIONS IN RDH5. RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES, 30 (10). pp. 1704-1713. ISSN 0275-004X, 1539-2864
Full text not available from this repository. (Request a copy)Abstract
Purpose: The purpose of this study was to characterize the phenotype of fundus albipunctatus associated with RDH5 mutations. Methods: Four unrelated patients (patients 1-4) aged 35, 32, 19, and 8 years were examined with full-field electroretinography, multifocal electroretinography, optical coherence tomography, and fundus autofluorescence photography. Molecular genetic investigations included sequencing of RDH5 and RLBP1. Results: Patients 1 to 3 harbored homozygous mutations (c.881G > C, c.625C > T, and c.382G > A, respectively) and patient 4 harbored the compound heterozygous mutations (c.95delT and c.712G > T) in RDH5. A large variability in retinal dysfunction caused by RDH5 mutations was found but not fully explained by a simple prediction of reduced enzymatic function. All patients showed lack of autofluorescence of the fundus, indicating a reduced supply of 11-cis retinal to the photoreceptors. The lesions corresponding to the white dots did not autofluoresce and were seen on optical coherence tomography as discrete hyperreflective elements in the outer retina extending from the external limiting membrane to Bruch membrane. Conclusion: Mutations in RDH5 associated with fundus albipunctatus seem to prevent normal lipofuscin accumulation. A relatively good functional status of 2 of 3 adult patients indicates that interference with 11-cis retinol dehydrogenase function may be a promising strategy for therapeutic intervention in retinal disorders featuring excessive lipofuscin accumulation. RETINA 30:1704-1713, 2010
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | 11-CIS-RETINOL DEHYDROGENASE GENE; RECESSIVE RETINITIS-PIGMENTOSA; NIGHT BLINDNESS; RETINYL ESTERS; DYSTROPHY; ACCUMULATION; CONE; EPITHELIUM; DISEASES; THERAPY; fundus albipunctatus; full-field ERG; dark adaptation; optical coherence tomography; fundus autofluorescence photography; multifocal ERG; lipofuscin |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Abteilung für Pädiatrische Ophthalmologie, Strabismologie und Ophthalmogenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 08 Jul 2020 05:25 |
| Last Modified: | 08 Jul 2020 05:25 |
| URI: | https://pred.uni-regensburg.de/id/eprint/23985 |
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