Hufendiek, Karsten and Hufendiek, Katerina and Jaegle, Herbert and Stoehr, Heidi and Book, Marius and Spital, Georg and Rustambayova, Guenay and Framme, Carsten and Weber, Bernhard H. F. and Renner, Agnes B. and Kellner, Ulrich (2020) Clinical Heterogeneity in Autosomal Recessive Bestrophinopathy with Biallelic Mutations in the BEST1 Gene. INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 21 (24): 9353. ISSN , 1422-0067
Full text not available from this repository. (Request a copy)Abstract
Autosomal recessive bestrophinopathy (ARB) has been reported as clinically heterogeneous. Eighteen patients (mean age: 22.5 years; 15 unrelated families) underwent ophthalmological examination, fundus photography, fundus autofluorescence, and optical coherence tomography (OCT). Molecular genetic testing of the BEST1 gene was conducted by the chain-terminating dideoxynucleotide Sanger methodology. Onset of symptoms (3 to 50 years of age) and best-corrected visual acuity (0.02-1.0) were highly variable. Ophthalmoscopic and retinal imaging defined five phenotypes. Phenotype I presented with single or confluent yellow lesions at the posterior pole and midperiphery, serous retinal detachment, and intraretinal cystoid spaces. In phenotype II fleck-like lesions were smaller and extended to the far periphery. Phenotype III showed a widespread continuous lesion with sharp peripheral demarcation. Single (phenotype IV) or multifocal (phenotype V) vitelliform macular dystrophy-like lesions were observed as well. Phenotypes varied within families and in two eyes of one patient. In addition, OCT detected hyperreflective foci (13/36 eyes) and choroidal excavation (11/36). Biallelic mutations were identified in each patient, six of which have not been reported so far [c.454C>T/p.(Pro152Ser), c.620T>A/p.(Leu207His), c.287_298del/p.(Gln96_Asn99del), c.199_200del/p.(Leu67Valfs*164), c.524del/p.(Ser175Thrfs*19), c.590_615del/p.(Leu197Profs*26)]. BEST1-associated ARB presents with a variable age of onset and clinical findings, that can be categorized in 5 clinical phenotypes. Hyperreflective foci and choroidal excavation frequently develop as secondary manifestations.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | VITELLIFORM MACULAR DYSTROPHY; ISCEV STANDARD; DISEASE; PROTEIN; VMD2; PHENOTYPE; RETINA; autosomal recessive bestrophinopathy (ARB); inherited retinal dystrophy; BEST1; bestrophin-1; fundus autofluorescence; optical coherence tomography; phenotyping |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Augenheilkunde Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 08 Mar 2021 07:27 |
| Last Modified: | 08 Mar 2021 07:27 |
| URI: | https://pred.uni-regensburg.de/id/eprint/43251 |
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