Autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss, retinopathy, absence of an electrooculogram light rise, and decreased electroretinogram.[1][2] Other findings include dispersed punctate flecks, macular neurosensory retina fluid build-up, hyperopia, macular thinning, and (less commonly) angle-closure glaucoma.[3][4]
| Autosomal recessive bestrophinopathy | |
|---|---|
 | |
| Specialty | Medical genetics |
| Symptoms | Ocular |
| Complications | Vision impairment |
| Usual onset | Childhood |
| Duration | Lifelong |
| Causes | Genetic mutation |
| Prevention | None |
| Prognosis | Medium |
| Frequency | rare, about 20 cases have been described in medical literature |
| Deaths | - |
It is caused by hereditary autosomal recessive mutations in the BEST1 gene, located in chromosome 11,[5][6][7][8][9] and it has been described in less than 20 individuals from 10 families worldwide.[10]
References edit
- ^ UCL (2020-08-09). "Autosomal Recessive Bestrophinopathy". UCL Institute of Ophthalmology. Archived from the original on 2022-07-19. Retrieved 2022-07-19.
- ^ Borman, Arundhati Dev; Davidson, Alice E.; O'Sullivan, James; Thompson, Dorothy A.; Robson, Anthony G.; De Baere, Elfride; Black, Graeme C. M.; Webster, Andrew R.; Holder, Graham E.; Leroy, Bart P.; Manson, Forbes D. C. (2011-08-01). "Childhood-Onset Autosomal Recessive Bestrophinopathy". Archives of Ophthalmology. 129 (8): 1088–1093. doi:10.1001/archophthalmol.2011.197. ISSN 0003-9950. PMID 21825197.
- ^ "Entry - #611809 - BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB - OMIM". omim.org. Archived from the original on 2022-06-17. Retrieved 2022-07-19.
- ^ "Autosomal recessive bestrophinopathy - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Archived from the original on 2021-08-02. Retrieved 2022-07-19.
- ^ Burgess, Rosemary; Millar, Ian D.; Leroy, Bart P.; Urquhart, Jill E.; Fearon, Ian M.; De Baere, Elfrida; Brown, Peter D.; Robson, Anthony G.; Wright, Genevieve A.; Kestelyn, Philippe; Holder, Graham E. (2008-01-01). "Biallelic mutation of BEST1 causes a distinct retinopathy in humans". American Journal of Human Genetics. 82 (1): 19–31. doi:10.1016/j.ajhg.2007.08.004. ISSN 1537-6605. PMC 2253971. PMID 18179881.
- ^ Lee, Christopher Seungkyu; Jun, Ikhyun; Choi, Seung-Il; Lee, Ji Hwan; Lee, Min Goo; Lee, Sung Chul; Kim, Eung Kweon (2015-12-01). "A Novel BEST1 Mutation in Autosomal Recessive Bestrophinopathy". Investigative Ophthalmology & Visual Science. 56 (13): 8141–8150. doi:10.1167/iovs.15-18168. ISSN 1552-5783. PMID 26720466.
- ^ Pfister, Tyler A.; Zein, Wadih M.; Cukras, Catherine A.; Sen, Hatice N.; Maldonado, Ramiro S.; Huryn, Laryssa A.; Hufnagel, Robert B. (2021-05-03). "Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy". Investigative Ophthalmology & Visual Science. 62 (6): 22. doi:10.1167/iovs.62.6.22. ISSN 1552-5783. PMC 8142704. PMID 34015078.
- ^ Ye, Panpan; Xu, Jia; Luo, Yueqiu; Su, Zhitao; Yao, Ke (2020-01-22). "Familial autosomal recessive bestrophinopathy: identification of a novel variant in BEST1 gene and the specific metabolomic profile". BMC Medical Genetics. 21 (1): 16. doi:10.1186/s12881-020-0951-3. ISSN 1471-2350. PMC 6977271. PMID 31969119.
- ^ Khojasteh, Hassan; Azarmina, Mohsen; Ebrahimiadib, Nazanin; Daftarian, Narsis; Riazi-Esfahani, Hamid; Naraghi, Houra; Sabbaghi, Hamideh; Khodabande, Alireza; Faghihi, Hooshang; Moghaddasi, Afrooz; Bazvand, Fatemeh (2021-04-30). "Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases". Journal of Ophthalmology. 2021: e6674290. doi:10.1155/2021/6674290. ISSN 2090-004X. PMC 8105111. PMID 34012682.
- ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal recessive bestrophinopathy". www.orpha.net. Archived from the original on 2017-07-30. Retrieved 2022-07-19.
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