September 2016
Volume 57, Issue 12
Open Access
ARVO Annual Meeting Abstract  |   September 2016
Challenges in the diagnosis of autosomal recessive bestrophinopathy: additional case reports
Author Affiliations & Notes
  • Benedikt Book
    Department of Ophthalmology, St. Franziskus Hospital Muenster, Muenster, Germany
  • Heidi Barbara Stoehr
    Institute of Human Genetics, University Regensburg, Regensburg, Germany
  • Bernhard HF Weber
    Institute of Human Genetics, University Regensburg, Regensburg, Germany
  • Georg Spital
    Department of Ophthalmology, St. Franziskus Hospital Muenster, Muenster, Germany
  • Footnotes
    Commercial Relationships   Benedikt Book, None; Heidi Stoehr, None; Bernhard Weber, None; Georg Spital, Alcon (S), Novartis (S), Pfizer (S)
  • Footnotes
    Support  None
Investigative Ophthalmology & Visual Science September 2016, Vol.57, 3146. doi:
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    • Get Citation

      Benedikt Book, Heidi Barbara Stoehr, Bernhard HF Weber, Georg Spital; Challenges in the diagnosis of autosomal recessive bestrophinopathy: additional case reports. Invest. Ophthalmol. Vis. Sci. 2016;57(12):3146.

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

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Abstract

Purpose : Autosomal recessive bestrophinopathy (ARB) is typically characterized by multiple vitelliform deposits , cystoid macular edema and subretinal fluid. This study reports the differential diagnosis of three patients with ARB based on clinical assessment and molecular genetic testing.

Methods : Clinical and genetic investigations were performed in five members of two families. Clinical examinations included visual acuity, fundus photography, fundus autofluorescence imaging, optical coherence tomography (OCT) and full-field electroretinography (full-field ERG). Genetic testing was done by direct Sanger sequencing of the genes BEST1, EFEMP1, RS1 and TIMP3.

Results : We examined two German brothers in their forties previously diagnosed with central serous retinopathy (CSR) due to pigment epithelial changes and subretinal fluid as seen in ophthalmoscopy and OCT. Kinship as well as rather atypical courses of CSR including central yellowish deposits in ophthalmoscopy led to testing for inherited diseases. Analysis of EFEMP1 and TIMP3 genes showed no pathological findings whereas both brothers were found to carry heterozygous p.Leu67Valfs*164/p.Ala195Val mutations in the BEST1 gene. In a third case, an 11-year old male from a consanguineous Turkish family with recurrent episodes of photophobia was initially misdiagnosed as having uveitis. A clinically found massive cystoid macular edema showed no leakage in fluorescein angiography whereas OCT scans revealed large subretinal and intraretinal fluid accumulation in the central and midperipheral retina resembling bilateral retinoschisis. Full-field photopic and scotopic ERG responses were abnormal with reduced amplitudes. Sequencing of the RS1 gene demonstrated no disease-causing mutations while a homozygous p.Asp118His mutation was identified in Exon 4 of the BEST1 gene. The asymptomatic parents were heterozygous carriers with normal clinical findings.

Conclusions : We report two novel BEST1 mutations causing ARB and underline its role as an important differential diagnosis to retinal diseases showing the above clinical findings.

This is an abstract that was submitted for the 2016 ARVO Annual Meeting, held in Seattle, Wash., May 1-5, 2016.

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