Cargando…
Case report: the first case of unilateral retinal pigment epithelium dysgenesis in China
BACKGROUND: Unilateral retinal pigment epithelium dysgenesis (URPED) is a rare condition and is characterized by a unilateral and solitary lesion in the peripapillary region. The lesion presents with central atrophy, peripheral fibrosis, and hyperplastic changes in the retinal pigment epithelium (RP...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441658/ https://www.ncbi.nlm.nih.gov/pubmed/32819322 http://dx.doi.org/10.1186/s12886-020-01609-4 |
_version_ | 1783573335100096512 |
---|---|
author | Ding, Yuhua Yao, Bangtao Xie, Keren Ye, Hui Yu, Yan |
author_facet | Ding, Yuhua Yao, Bangtao Xie, Keren Ye, Hui Yu, Yan |
author_sort | Ding, Yuhua |
collection | PubMed |
description | BACKGROUND: Unilateral retinal pigment epithelium dysgenesis (URPED) is a rare condition and is characterized by a unilateral and solitary lesion in the peripapillary region. The lesion presents with central atrophy, peripheral fibrosis, and hyperplastic changes in the retinal pigment epithelium (RPE). Herein, we report the first case of URPED in a Chinese individual using multimodal imaging techniques such as en-face optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). CASE PRESENTATION: A 10-year-old girl presented with 20/40 vision in her left eye. Presented as a solitary, unilateral, large and yellowish-white lesion, with fringe-like margins was observed in the posterior pole and lower middle periphery of the left eye continuous with the optic nerve, indicated URPED. Infrared fundal (IR) images showed that the fringe-like contour of the lesion was visible, with diffuse hyperreflective signals specifically in the fovea, while with peripheral dark spots, having a typical leopard-spot like appearance. Fundus autofluorescence (FAF) revealed a markedly scalloped lesion containing a hypoautofluorescence area mixed with an isoautofluorescence area. Spectral-domain optical coherence tomography (SD-OCT) revealed the outer segments of photoreceptors presented with an inhomogeneous signal in the fovea, with a weak local signal. The ellipsoid and interdigitation zones were thinner than normal, while the RPE/Bruch’s complex was not flat, with locally visible protrusions. En-face OCT image at the level of the RPE zone showed a mottled hyperreflective signal with peripheral hyporeflective spots, fringe-like margin lesions. OCTA of the avascular area of the fovea in the superficial, deep, and outer retinal layers appeared to be oval in shape, the choroid capillary layer revealed an increase in the density of the choroidal vasculature in the fovea. CONCLUSIONS: This is the first report on URPED in China. Both en-face OCT and OCTA were essential in observing and studying the disease. Further investigation is required to better define the en-face OCT and OCTA features of URPED and clarify the disease characteristics and prognosis. |
format | Online Article Text |
id | pubmed-7441658 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | BioMed Central |
record_format | MEDLINE/PubMed |
spelling | pubmed-74416582020-08-24 Case report: the first case of unilateral retinal pigment epithelium dysgenesis in China Ding, Yuhua Yao, Bangtao Xie, Keren Ye, Hui Yu, Yan BMC Ophthalmol Case Report BACKGROUND: Unilateral retinal pigment epithelium dysgenesis (URPED) is a rare condition and is characterized by a unilateral and solitary lesion in the peripapillary region. The lesion presents with central atrophy, peripheral fibrosis, and hyperplastic changes in the retinal pigment epithelium (RPE). Herein, we report the first case of URPED in a Chinese individual using multimodal imaging techniques such as en-face optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA). CASE PRESENTATION: A 10-year-old girl presented with 20/40 vision in her left eye. Presented as a solitary, unilateral, large and yellowish-white lesion, with fringe-like margins was observed in the posterior pole and lower middle periphery of the left eye continuous with the optic nerve, indicated URPED. Infrared fundal (IR) images showed that the fringe-like contour of the lesion was visible, with diffuse hyperreflective signals specifically in the fovea, while with peripheral dark spots, having a typical leopard-spot like appearance. Fundus autofluorescence (FAF) revealed a markedly scalloped lesion containing a hypoautofluorescence area mixed with an isoautofluorescence area. Spectral-domain optical coherence tomography (SD-OCT) revealed the outer segments of photoreceptors presented with an inhomogeneous signal in the fovea, with a weak local signal. The ellipsoid and interdigitation zones were thinner than normal, while the RPE/Bruch’s complex was not flat, with locally visible protrusions. En-face OCT image at the level of the RPE zone showed a mottled hyperreflective signal with peripheral hyporeflective spots, fringe-like margin lesions. OCTA of the avascular area of the fovea in the superficial, deep, and outer retinal layers appeared to be oval in shape, the choroid capillary layer revealed an increase in the density of the choroidal vasculature in the fovea. CONCLUSIONS: This is the first report on URPED in China. Both en-face OCT and OCTA were essential in observing and studying the disease. Further investigation is required to better define the en-face OCT and OCTA features of URPED and clarify the disease characteristics and prognosis. BioMed Central 2020-08-20 /pmc/articles/PMC7441658/ /pubmed/32819322 http://dx.doi.org/10.1186/s12886-020-01609-4 Text en © The Author(s) 2020 Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/. The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated in a credit line to the data. |
spellingShingle | Case Report Ding, Yuhua Yao, Bangtao Xie, Keren Ye, Hui Yu, Yan Case report: the first case of unilateral retinal pigment epithelium dysgenesis in China |
title | Case report: the first case of unilateral retinal pigment epithelium dysgenesis in China |
title_full | Case report: the first case of unilateral retinal pigment epithelium dysgenesis in China |
title_fullStr | Case report: the first case of unilateral retinal pigment epithelium dysgenesis in China |
title_full_unstemmed | Case report: the first case of unilateral retinal pigment epithelium dysgenesis in China |
title_short | Case report: the first case of unilateral retinal pigment epithelium dysgenesis in China |
title_sort | case report: the first case of unilateral retinal pigment epithelium dysgenesis in china |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7441658/ https://www.ncbi.nlm.nih.gov/pubmed/32819322 http://dx.doi.org/10.1186/s12886-020-01609-4 |
work_keys_str_mv | AT dingyuhua casereportthefirstcaseofunilateralretinalpigmentepitheliumdysgenesisinchina AT yaobangtao casereportthefirstcaseofunilateralretinalpigmentepitheliumdysgenesisinchina AT xiekeren casereportthefirstcaseofunilateralretinalpigmentepitheliumdysgenesisinchina AT yehui casereportthefirstcaseofunilateralretinalpigmentepitheliumdysgenesisinchina AT yuyan casereportthefirstcaseofunilateralretinalpigmentepitheliumdysgenesisinchina |