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Refractive profile in oculocutaneous albinism and its correlation with final visual outcome
  1. Claudia Yahalom1,2,
  2. Veronica Tzur1,3,
  3. Anat Blumenfeld1,
  4. Gabriel Greifner1,
  5. Dalia Eli1,
  6. Ada Rosenmann1,
  7. Sherry Glanzer1,
  8. Irene Anteby2
  1. 1Michaelson Institute for the Rehabilitation of Vision, Hadassah Hebrew University-Medical Center, Jerusalem, Israel
  2. 2Center for Pediatric Ophthalmology, Hebrew University-Hadassah Hebrew University-Medical Center, Jerusalem, Israel
  3. 3Vision Science and Optometry Department, Hadassah Hebrew University-Medical Center, Jerusalem, Israel
  1. Correspondence to Dr Claudia Yahalom, Center for Pediatric Ophthalmology, Department of Ophthalmology, Hadassah Hebrew University-Medical Center, PO Box 12000, Jerusalem 91120, Israel; kloudia{at}hadassah.org.il

Abstract

Purpose To evaluate the prevalence of refractive errors in different subtypes of oculocutaneous albinism, and to see if there is any correlation between refractive errors and final visual outcome in this population.

Patients/methods This is a retrospective study of 132 albino patients, ranging in age from 0.5 to 35 years. They were divided into four subtypes: OCA1A, OCA1B and OCA1C, and OCA2. Refractive errors were evaluated objectively by cycloplegic refraction and subjectively in cooperative patients. Best corrected visual acuity was assessed binocularly. Refractive errors were divided into three groups—hypermetropia, myopia and astigmatism—to avoid the use of spherical equivalent.

Results Refractive errors were mainly astigmatism and hypermetropia. The OCA1A group showed high hypermetropia (≥5 dioptres) in 43.4% of patients, reaching significantly higher levels than in other subgroups (p=0.007). Mean visual acuity in logMAR was: OCA1A=0.81, OCA1B=0.64, OCA1C=0.61 and OCA2=0.48. Astigmatism averaged 2.1 dioptres (consistently with-the-rule), and it was homogeneously distributed between all subgroups (53%).

Conclusions The poorest visual acuity was found in those with OCA1A, which was associated with the highest rate of high hypermetropia (statistically significant different from other subgroups). Astigmatism was the most common visually significant refractive error across all subtypes of albinism. These results may help to clarify the prevalence of refractive errors in albino patients and aid the prediction of visual outcome in this heterogeneous population.

  • Vision
  • optics and refraction
  • genetics
  • albinism
  • vision
  • diagnostic tests/investigation
  • experimental & laboratory
  • genetics
  • neoplasia
  • choroid
  • ciliary body
  • cornea
  • eye lids
  • stem cells
  • eye (globe)
  • embryology and development
  • dystrophy

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Institutional review board of Hadassah Hospital.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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