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

doi:10.1080/13816810.2020.1765397

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

Ophthalmology

Research output: Contribution to journal › Article › peer-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 language	English (US)
Pages (from-to)	448-450
Number of pages	3
Journal	Ophthalmic Genetics
Volume	41
Issue number	5
DOIs	https://doi.org/10.1080/13816810.2020.1765397
State	Published - Sep 2 2020

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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10.1080/13816810.2020.1765397

Cite this

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title = "Bilateral atypical lamellar holes in a patient with oculocutaneous albinism",

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.",

keywords = "Albinism, fovea plana, foveal hypoplasia, lamellar holes, optical coherence tomography",

author = "Falcone, {Michelle M.} and Patel, {Nimesh A.} and Yannuzzi, {Nicolas A.} and Dhariana Acon and Negron, {Catherin I.} and Craig McKeown and Berrocal, {Audina M.}",

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AU - Falcone, Michelle M.

AU - Patel, Nimesh A.

AU - Yannuzzi, Nicolas A.

AU - Acon, Dhariana

AU - Negron, Catherin I.

AU - McKeown, Craig

AU - Berrocal, Audina M.

PY - 2020/9/2

Y1 - 2020/9/2

N2 - 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.

AB - 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.

KW - Albinism

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KW - foveal hypoplasia

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Bilateral atypical lamellar holes in a patient with oculocutaneous albinism

Abstract

Keywords

ASJC Scopus subject areas

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