Bilateral atypical lamellar holes in a patient with oculocutaneous albinism

Michelle M. Falcone, Nimesh A. Patel, Nicolas A. Yannuzzi, Dhariana Acon, Catherin I. Negron, Craig McKeown, Audina M. Berrocal

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Albinism can present with a wide range of ophthalmic findings and variable expressivity. With the use of optical coherence tomography, there has been increasing awareness of the variability of macular findings in this condition. Materials and Methods: Case report Results: We present a case of oculocutaneous albinism with bilateral atypical lamellar holes which may represent part of the spectrum of retinal abnormalities in this condition. Conclusion: Optical coherence tomography can be helpful in diagnosing albinism. Variable expressivity leads to a range of macular pathology in albinism which may include atypical lamellar holes as described in this patient.

Original languageEnglish (US)
Pages (from-to)448-450
Number of pages3
JournalOphthalmic Genetics
Volume41
Issue number5
DOIs
StatePublished - Sep 2 2020
Externally publishedYes

Keywords

  • Albinism
  • fovea plana
  • foveal hypoplasia
  • lamellar holes
  • optical coherence tomography

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Ophthalmology
  • Genetics(clinical)

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