July 2019
Volume 60, Issue 9
Open Access
ARVO Annual Meeting Abstract  |   July 2019
Report of five families with autosomal recessive Bestrophinopathies (ARB)
Author Affiliations & Notes
  • Habibi Imen
    Institute for Research in Ophthalmology (IRO), Sion, Switzerland
  • Yosra Falfoul
    Hedi Rais Institute of Ophthalmology (Department B), LR14SP01, Tunis, Tunisia
  • Margarita G. Todorova
    Department of Ophthalmology, University of Basel, Basel, Basel, Switzerland
  • Stefan Wyrsch
    Eye Clinic, Lucerne Cantonal Hospital, Lucerne, Switzerland
  • Daniel F Schorderet
    Institute for Research in Ophthalmology (IRO), Sion, Switzerland
  • Leila El Matri
    Hedi Rais Institute of Ophthalmology (Department B), LR14SP01, Tunis, Tunisia
  • Footnotes
    Commercial Relationships   Habibi Imen, None; Yosra Falfoul, None; Margarita G. Todorova, None; Stefan Wyrsch, None; Daniel Schorderet, None; Leila El Matri, None
  • Footnotes
    Support   None
Investigative Ophthalmology & Visual Science July 2019, Vol.60, 398. doi:
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      Habibi Imen, Yosra Falfoul, Margarita G. Todorova, Stefan Wyrsch, Daniel F Schorderet, Leila El Matri; Report of five families with autosomal recessive Bestrophinopathies (ARB). Invest. Ophthalmol. Vis. Sci. 2019;60(9):398.

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      © ARVO (1962-2015); The Authors (2016-present)

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Purpose : Mutations in BEST1 cause several phenotypes including autosomal dominant (AD) Best vitelliform macular dystrophy type 2 (BVMD), AD vitreoretinochoroidopathy (ADVIRC), and retinitis pigmentosa-50 (RP50). These retinopathies are characterized by vitelliform dystrophy for which ophthalmologists like to describe 5 stages, going from pre-vitelliform to the atrophic final stage. A rare subtype of bestrophinopathy exists with biallelic mutations in BEST1. Its frequency is estimated to be 1/1’000’000 individuals.

Methods : We report 5 cases and establish a phenotype-genotype correlation. All patients were referred because of reduced best-corrected visual acuity, ranging from 0.1/10 to 3/10. All patients showed vitelliform lesions present at the macula, sometimes extending into the midperiphery and along the vessels and optic disc. Onset of the disease varied from the age of three to 25 years. Electrooculogram (EOG) revealed reduction in the EOG light rise in all patients.

Results : Molecular analysis revealed the previously reported mutations p.[R141H];[A195V], p.[E35K];[E35K], and p.[R202W]; [R202W]. Two families showed novel mutations: p.[Q220*];[Q220*] and p.[L31M];[L31M]. All mutations were heterozygous in the parents. In one family, heterozygous children showed various reductions in the EOG light rise and autofluorescent deposits.

Conclusions : ARB, also rare, can be recognized by its phenotype and should be validated by molecular analysis. Phenotype-genotype correlations are hard to establish and will have to wait for more cases.

This abstract was presented at the 2019 ARVO Annual Meeting, held in Vancouver, Canada, April 28 - May 2, 2019.


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