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| -

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]

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] Autosomal recessive bestrophinopathy (ARB) has also been reported in Sri Lanka, in what was described as the country's first genetically confirmed cohort.[11]

## References

1. ↑ UCL (2020-08-09). "Autosomal Recessive Bestrophinopathy" (in en). https://www.ucl.ac.uk/ioo/research/research-labs-and-groups/carr-lab/bestrophinopathies-resource-pages/what-are-2.
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. et al. (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" (in en-us). https://omim.org/entry/611809#2.
4. ↑ "Autosomal recessive bestrophinopathy - About the Disease - Genetic and Rare Diseases Information Center" (in en). https://rarediseases.info.nih.gov/diseases/10301/autosomal-recessive-bestrophinopathy.
5. ↑ Burgess, Rosemary; Millar, Ian D.; Leroy, Bart P.; Urquhart, Jill E.; Fearon, Ian M.; De Baere, Elfrida; Brown, Peter D.; Robson, Anthony G. et al. (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. 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" (in en). Investigative Ophthalmology & Visual Science 62 (6): 22. doi:10.1167/iovs.62.6.22. ISSN 1552-5783. 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. PMID 31969119.
9. ↑ Khojasteh, Hassan; Azarmina, Mohsen; Ebrahimiadib, Nazanin; Daftarian, Narsis; Riazi-Esfahani, Hamid; Naraghi, Houra; Sabbaghi, Hamideh; Khodabande, Alireza et al. (2021-04-30). "Autosomal Recessive Bestrophinopathy: Clinical and Genetic Characteristics of Twenty-Four Cases" (in en). Journal of Ophthalmology 2021. doi:10.1155/2021/6674290. ISSN 2090-004X. PMID 34012682.
10. ↑ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Autosomal recessive bestrophinopathy" (in en). https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=139455.
11. ↑ Lindamulage, S.D. (2025). Autosomal Recessive Bestrophinopathy (ARB): Molecular and Translational Insights from a Clinical Case Series. Figshare. https://doi.org/10.6084/m9.figshare.30081151.v1

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