Ultra-Widefield Laser Scanning Retina Imaging in Oculocutaneous Albinism

Ultra-Widefield Laser Scanning Retina Imaging in Oculocutaneous Albinism Clinical Review & Education Ophthalmic Images Ultra-Widefield Laser Scanning Retina Imaging in Oculocutaneous Albinism Haoyu Li, MD; Jianqiang Li, MD; Qiuming Hu, MD Figure. Ultra-widefield laser scanning image of the right retina showing vortex veins in hypopigmented fundus (blue arrowheads) with fovea (black arrowhead). A 5-year-old girl with abnormalities of the skin and hair that were Optos) to observe the pigment of the fundus to make a definitive consistent with albinism had nystagmus and photophobia. Her skin diagnosis of oculocutaneous albinism. The vortex veins and a hy- color varied from yellow to milky white and hypopigmentation was poplasia of the macula were noted (Figure). Oculocutaneous albi- appreciated by comparison with other family members. She re- nism is characterized by photophobia, nystagmus, fundus hypopig- ceived ultra-widefield laser scanning imaging (Daytona P200T; mentation, and the absence of foveal pit. ARTICLE INFORMATION Conflict of Interest Disclosures: None reported. immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis. Author Affiliations: Guangxi University of Chinese Additional Contributions: We thank the patient’s 2013;8:168. doi:10.1186/1750-1172-8-168 Medicine, Nanning, Guangxi, China (H. Li); Jingliang father for granting permission to publish this Eye Hospital, Guangxi Medical University, Nanning, information. 2. Kamaraj B, Purohit R. Mutational analysis of Guangxi, China (J. Li, Hu). oculocutaneous albinism: a compact review. REFERENCES Biomed Res Int. 2014;2014:905472. doi:10.1155/ Corresponding Author: Qiuming Hu, MD, 2014/905472 Jingliang Eye Hospital, Guangxi Medical University, 1. Dotta L, Parolini S, Prandini A, et al. Clinical, 9 Qingshan Rd, Nanning, Guangxi, China laboratory and molecular signs of (doctorhu530023@163.com). jamaophthalmology.com (Reprinted) JAMA Ophthalmology February 2020 Volume 138, Number 2 1/1 © 2020 American Medical Association. All rights reserved. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Ultra-Widefield Laser Scanning Retina Imaging in Oculocutaneous Albinism

JAMA Ophthalmology, Volume 138 (2) – Feb 1, 2020

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Publisher
American Medical Association
Copyright
Copyright 2020 American Medical Association. All Rights Reserved.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2019.0399
Publisher site
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Abstract

Clinical Review & Education Ophthalmic Images Ultra-Widefield Laser Scanning Retina Imaging in Oculocutaneous Albinism Haoyu Li, MD; Jianqiang Li, MD; Qiuming Hu, MD Figure. Ultra-widefield laser scanning image of the right retina showing vortex veins in hypopigmented fundus (blue arrowheads) with fovea (black arrowhead). A 5-year-old girl with abnormalities of the skin and hair that were Optos) to observe the pigment of the fundus to make a definitive consistent with albinism had nystagmus and photophobia. Her skin diagnosis of oculocutaneous albinism. The vortex veins and a hy- color varied from yellow to milky white and hypopigmentation was poplasia of the macula were noted (Figure). Oculocutaneous albi- appreciated by comparison with other family members. She re- nism is characterized by photophobia, nystagmus, fundus hypopig- ceived ultra-widefield laser scanning imaging (Daytona P200T; mentation, and the absence of foveal pit. ARTICLE INFORMATION Conflict of Interest Disclosures: None reported. immunodeficiency in patients with partial oculo-cutaneous albinism. Orphanet J Rare Dis. Author Affiliations: Guangxi University of Chinese Additional Contributions: We thank the patient’s 2013;8:168. doi:10.1186/1750-1172-8-168 Medicine, Nanning, Guangxi, China (H. Li); Jingliang father for granting permission to publish this Eye Hospital, Guangxi Medical University, Nanning, information. 2. Kamaraj B, Purohit R. Mutational analysis of Guangxi, China (J. Li, Hu). oculocutaneous albinism: a compact review. REFERENCES Biomed Res Int. 2014;2014:905472. doi:10.1155/ Corresponding Author: Qiuming Hu, MD, 2014/905472 Jingliang Eye Hospital, Guangxi Medical University, 1. Dotta L, Parolini S, Prandini A, et al. Clinical, 9 Qingshan Rd, Nanning, Guangxi, China laboratory and molecular signs of (doctorhu530023@163.com). jamaophthalmology.com (Reprinted) JAMA Ophthalmology February 2020 Volume 138, Number 2 1/1 © 2020 American Medical Association. All rights reserved.

Journal

JAMA OphthalmologyAmerican Medical Association

Published: Feb 1, 2020

References

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