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Autosomal recessive bestrophinopathy

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Medical condition
Autosomal recessive bestrophinopathy
SpecialtyMedical genetics
SymptomsOcular
ComplicationsVision impairment
Usual onsetChildhood
DurationLifelong
CausesGenetic mutation
PreventionNone
PrognosisMedium
Frequencyrare, about 20 cases have been described in medical literature
Deaths-

Autosomal recessive bestrophinopathy is a rare genetic disorder characterized by central vision loss, retinopathy, absence of an electrooculogram light rise, and decreased electroretinogram. Other findings include dispersed punctate flecks, macular neurosensory retina fluid build-up, hyperopia, macular thinning, and (less commonly) angle-closure glaucoma.

It is caused by hereditary autosomal recessive mutations in the BEST1 gene, located in chromosome 11, and it has been described in less than 20 individuals from 10 families worldwide.

References

  1. UCL (2020-08-09). "Autosomal Recessive Bestrophinopathy". UCL Institute of Ophthalmology. Archived from the original on 2022-07-19. Retrieved 2022-07-19.
  2. 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.
  3. "Entry - #611809 - BESTROPHINOPATHY, AUTOSOMAL RECESSIVE; ARB - OMIM". omim.org. Archived from the original on 2022-06-17. Retrieved 2022-07-19.
  4. "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.
  5. 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.
  6. 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.
  7. 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.
  8. 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.
  9. 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.
  10. RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal recessive bestrophinopathy". www.orpha.net. Archived from the original on 2017-07-30. Retrieved 2022-07-19.{{cite web}}: CS1 maint: numeric names: authors list (link)
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