Predominance of hyperopia in autosomal dominant Best vitelliform macular dystrophy

Br J Ophthalmol. 2022 Apr;106(4):522-527. doi: 10.1136/bjophthalmol-2020-317763. Epub 2020 Nov 26.

Abstract

Background/aims: Patients with BEST1-associated autosomal dominant Best vitelliform macular dystrophy (AD-BVMD) have been reported to be hyperopic, but the prevalence of refractive error has not been described. This study aimed to characterise the type and degree of refractive error in a large cohort of patients with AD-BVMD compared with an age-similar group with ABCA4-associated Stargardt disease.

Methods: This was a retrospective chart review of consecutive patients with molecularly confirmed AD-BVMD and Stargardt macular dystrophy seen at a single academic centre. Demographic information, including age, gender and genotype were extracted from the chart. The best corrected visual acuity (BCVA), as well as type and degree of refractive error on manifest refraction for each eye on each visit, were recorded and compared.

Results: A total of 178 eyes from 89 patients with AD-BVMD (35 women, 54 men; mean age 36.6 years) and 306 eyes from 153 patients (94 women, 59 men, mean age 30.2 years) with Stargardt disease were included in the study. Mean BCVA was excellent for both AD-BVMD and Stargardt eyes (logMAR 0.23 vs logMAR 0.31, respectively; p=0.55). At initial refraction, 73.0% of AD-BVMD eyes (130/178) were hyperopic, with mean spherical equivalent (SE) +1.38 dioptres (median +0.88) whereas 80.7% of Stargardt eyes (247/306) were myopic, with mean SE of -1.76 dioptres (median -1.19) (p<0.001).

Conclusion: Patients with AD-BVMD are predominantly hyperopic, whereas those with Stargardt disease are predominantly myopic. The findings provide further evidence of a role for BEST1 in ocular growth and development.

Keywords: genetics; macula; optics and refraction; retina.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters
  • Adult
  • Bestrophins / genetics
  • Female
  • Humans
  • Hyperopia* / diagnosis
  • Hyperopia* / genetics
  • Male
  • Myopia*
  • Refractive Errors*
  • Retrospective Studies
  • Stargardt Disease
  • Tomography, Optical Coherence
  • Visual Acuity
  • Vitelliform Macular Dystrophy* / diagnosis
  • Vitelliform Macular Dystrophy* / genetics

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • BEST1 protein, human
  • Bestrophins