Khan, KN, Lord, EC orcid.org/0000-0001-9216-7382, Arno, G et al. (10 more authors) (2018) Detailed Retinal Imaging In Carriers Of Ocular Albinism. Retina, 38 (3). pp. 620-628. ISSN 1539-2864
Abstract
BACKGROUND:
Albinism refers to a group of disorders primarily characterized by hypopigmentation. Affected individuals usually manifest both ocular and cutaneous features of the disease, but occasionally hair and skin pigmentation may appear normal. This is the case in ocular albinism, an X chromosome linked disorder resulting from mutation of GPR143. Female carriers may be recognized by a "mud-splatter" appearance in the peripheral retina. The macula is thought to be normal, however.
METHODS:
Obligate female carriers of pathogenic GPR143 alleles were recruited. Molecular confirmation of disease was performed only for atypical cases. Detailed retinal imaging was performed (colour fundus photography, optical coherence tomography, fundus autofluorescence.
RESULTS:
Eight individuals were ascertained. A novel GPR143 mutation was identified in one family (p.Gln328Ter). Foveal fundus autofluorescence was subjectively reduced in 6/6 patients imaged. A "tapetal-like" pattern of autofluorescence was visible at the macula in 3/6. Persistence of the inner retinal layers at the fovea was observed in 6/8 females.
CONCLUSION:
Female carriers of ocular albinism may manifest signs of retinal pigment epithelium mosaicism at the macula and the peripheral fundus. A tapetal-like reflex on fundus autofluorescence may be considered the macular correlate of "mud-splatter."
Metadata
Item Type: | Article |
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Authors/Creators: |
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Copyright, Publisher and Additional Information: | (c) 2017 by Ophthalmic Communications Society, Inc. This is an author produced accepted manuscript version of "Khan, KN, Lord, EC, Arno, G et al. (2017) DETAILED RETINAL IMAGING IN CARRIERS OF OCULAR ALBINISM. RETINA." The final published version is available at: [https://doi.org/10.1097/IAE.0000000000001570]. Uploaded in accordance with the publisher's self-archiving policy. Unauthorized reproduction of this article is prohibited. |
Keywords: | ocular albinism; imaging; retina; auto- fluorescence; optical coherence tomography |
Dates: |
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Institution: | The University of Leeds |
Academic Units: | The University of Leeds > Faculty of Medicine and Health (Leeds) > School of Medicine (Leeds) > Inst of Biomed & Clin Sciences (LIBACS) (Leeds) > Genetics (LIBACS) (Leeds) The University of Leeds > Faculty of Medicine and Health (Leeds) > Institute of Molecular Medicine (LIMM) (Leeds) > Section of Opthalmology and Neurosciences (Leeds) |
Funding Information: | Funder Grant number Fight for Sight GR586 |
Depositing User: | Symplectic Publications |
Date Deposited: | 15 Mar 2017 11:31 |
Last Modified: | 05 Jul 2018 10:34 |
Published Version: | https://doi.org/10.1097/IAE.0000000000001570 |
Status: | Published |
Publisher: | Wolters Kluwer Health |
Identification Number: | 10.1097/IAE.0000000000001570 |
Open Archives Initiative ID (OAI ID): | oai:eprints.whiterose.ac.uk:113571 |