Kellner, Simone and Stoehr, Heidi and Fiebig, Britta and Weinitz, Silke and Farmand, Ghazaleh and Kellner, Ulrich and Weber, Bernhard H. F. (2016) Fundus Autofluorescence and SD-OCT Document Rapid Progression in Autosomal Dominant Vitreoretinochoroidopathy (ADVIRC) Associated with a c.256G > A Mutation in BEST1. OPHTHALMIC GENETICS, 37 (2). pp. 201-208. ISSN 1381-6810, 1744-5094
Full text not available from this repository. (Request a copy)Abstract
Purpose: To report the variability of clinical findings, rapid concentric progression, and successful treatment of macular edema in autosomal dominant vitreoretinochoroidopathy (ADVIRC) associated with a heterozygous c.256G > A missense mutation in the bestrophin-1 (BEST1) gene. Methods: Three affected members of a four-generation ADVIRC family were examined with fundus autofluorescence (FAF), near-infrared autofluorescence (NIA) and spectral domain optical coherence tomography (SD-OCT). Direct sequence analysis of coding and flanking intronic regions of the BEST1 gene was performed. Results: Disease manifestations presented with high variability with visual problems manifesting between 10 and 40 years of age. Two probands showed marked signs of peripheral degeneration, while this retinal area was not noticeably affected in the third. Cystoid macular edema was present in one proband, which responded to long-term treatment with topic dorzolamide with improved visual acuity. FAF and NIA revealed mid-peripheral retinal degeneration in areas that appeared normal on ophthalmoscopy. The full-field ERG was markedly reduced in two probands. Within a 5-year period a marked increase in concentric progression of degeneration including the posterior pole was documented with FAF, NIA and SD-OCT in one proband after the age of 63 years. Direct sequence analysis of the BEST1 gene revealed a heterozygous c.256G > A missense mutation in the three affected probands. Conclusion: The findings in this family emphasize the previously noted variability of clinical manifestations in BEST1-associated ADVIRC and the relevance of FAF and NIA imaging. Cystoid macular edema and vascular leakage can be successfully treated using dorzolamide.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | CYSTOID MACULAR EDEMA; RETINITIS-PIGMENTOSA; CONE DYSFUNCTION; DYSTROPHY; DORZOLAMIDE; UPDATE; FAMILY; GENE; VMD2; ADVIRC; BEST1; fundus autofluorescence; long-term follow-up; near-infrared autofluorescence |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 15 Mar 2019 09:03 |
| Last Modified: | 15 Mar 2019 09:03 |
| URI: | https://pred.uni-regensburg.de/id/eprint/2711 |
Actions (login required)
 |
View Item |
