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NDP-related retinopathies: clinical phenotype of female carriers

BACKGROUND/AIMS: Norrin cysteine knot growth factor (NDP) located on the X chromosome, was previously reported to cause Norrie disease and familial exudative vitreoretinopathy (FEVR), which are blindness-causing ocular disorders, in males. In this study, we aimed to explore the clinical characterist...

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Autores principales: Huang, Li, Sun, Limei, Li, Xiaoyu, Li, Songshan, Zhang, Ting, Zhang, Zhaotian, Ding, Xiaoyan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BMJ Publishing Group 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359507/
https://www.ncbi.nlm.nih.gov/pubmed/35361573
http://dx.doi.org/10.1136/bjophthalmol-2021-320084
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author Huang, Li
Sun, Limei
Li, Xiaoyu
Li, Songshan
Zhang, Ting
Zhang, Zhaotian
Ding, Xiaoyan
author_facet Huang, Li
Sun, Limei
Li, Xiaoyu
Li, Songshan
Zhang, Ting
Zhang, Zhaotian
Ding, Xiaoyan
author_sort Huang, Li
collection PubMed
description BACKGROUND/AIMS: Norrin cysteine knot growth factor (NDP) located on the X chromosome, was previously reported to cause Norrie disease and familial exudative vitreoretinopathy (FEVR), which are blindness-causing ocular disorders, in males. In this study, we aimed to explore the clinical characteristics of female carriers with NDP mutations. METHODS: Twelve female carriers from 11 unrelated families with pathogenic NDP mutations were recruited. Clinical data were collected from the NDP carriers. Comprehensive ocular examinations, including best corrected visual acuity, slit lamp examination, fundus photography and fundus fluorescein angiography (FFA) were evaluated. Targeted gene or whole exome sequencing was performed in the probands, and Sanger sequencing was performed to confirm NDP mutations in female carriers. RESULTS: Of the 12 females, 1 (1/12, 8.3%) presented with decreased visual acuity and 11 (11/12, 91.7%) were asymptomatic. Based on the FFA, peripheral vascular changes were noted in 66.7% (16/24) of the eyes of 75.0% (9/12) of the carriers. A total of 33.3% (8/24) had typical FEVR phenotype, 33.3% (8/24) had mild vascular abnormalities and 33.3% (8/24) was unremarkable. In addition, predominant changes such as telangiectatic endings (66.7%), anomalous circumferential vessel (37.5%), supernumerary vascular branching (33.3%), fluorescein leakage (29.2%), avascular area (8.3%), retina fold (8.3%) and peripheral straightening of retinal vessels (33.3%) were noted. CONCLUSION: Although NDP-related retinopathy is an X-linked recessive disorder, most of the female carriers of NDP exhibited clinical features of FEVR. Thus, timely examinations and lifelong monitoring should be conducted in the NDP female carriers.
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spelling pubmed-103595072023-07-22 NDP-related retinopathies: clinical phenotype of female carriers Huang, Li Sun, Limei Li, Xiaoyu Li, Songshan Zhang, Ting Zhang, Zhaotian Ding, Xiaoyan Br J Ophthalmol Clinical Science BACKGROUND/AIMS: Norrin cysteine knot growth factor (NDP) located on the X chromosome, was previously reported to cause Norrie disease and familial exudative vitreoretinopathy (FEVR), which are blindness-causing ocular disorders, in males. In this study, we aimed to explore the clinical characteristics of female carriers with NDP mutations. METHODS: Twelve female carriers from 11 unrelated families with pathogenic NDP mutations were recruited. Clinical data were collected from the NDP carriers. Comprehensive ocular examinations, including best corrected visual acuity, slit lamp examination, fundus photography and fundus fluorescein angiography (FFA) were evaluated. Targeted gene or whole exome sequencing was performed in the probands, and Sanger sequencing was performed to confirm NDP mutations in female carriers. RESULTS: Of the 12 females, 1 (1/12, 8.3%) presented with decreased visual acuity and 11 (11/12, 91.7%) were asymptomatic. Based on the FFA, peripheral vascular changes were noted in 66.7% (16/24) of the eyes of 75.0% (9/12) of the carriers. A total of 33.3% (8/24) had typical FEVR phenotype, 33.3% (8/24) had mild vascular abnormalities and 33.3% (8/24) was unremarkable. In addition, predominant changes such as telangiectatic endings (66.7%), anomalous circumferential vessel (37.5%), supernumerary vascular branching (33.3%), fluorescein leakage (29.2%), avascular area (8.3%), retina fold (8.3%) and peripheral straightening of retinal vessels (33.3%) were noted. CONCLUSION: Although NDP-related retinopathy is an X-linked recessive disorder, most of the female carriers of NDP exhibited clinical features of FEVR. Thus, timely examinations and lifelong monitoring should be conducted in the NDP female carriers. BMJ Publishing Group 2023-08 2022-03-31 /pmc/articles/PMC10359507/ /pubmed/35361573 http://dx.doi.org/10.1136/bjophthalmol-2021-320084 Text en © Author(s) (or their employer(s)) 2023. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. https://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/ (https://creativecommons.org/licenses/by-nc/4.0/) .
spellingShingle Clinical Science
Huang, Li
Sun, Limei
Li, Xiaoyu
Li, Songshan
Zhang, Ting
Zhang, Zhaotian
Ding, Xiaoyan
NDP-related retinopathies: clinical phenotype of female carriers
title NDP-related retinopathies: clinical phenotype of female carriers
title_full NDP-related retinopathies: clinical phenotype of female carriers
title_fullStr NDP-related retinopathies: clinical phenotype of female carriers
title_full_unstemmed NDP-related retinopathies: clinical phenotype of female carriers
title_short NDP-related retinopathies: clinical phenotype of female carriers
title_sort ndp-related retinopathies: clinical phenotype of female carriers
topic Clinical Science
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10359507/
https://www.ncbi.nlm.nih.gov/pubmed/35361573
http://dx.doi.org/10.1136/bjophthalmol-2021-320084
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