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Select pediatric vitreoretinal disease in the setting of Turner's syndrome

PURPOSE: To report 2 cases of pediatric vitreoretinal disease in the setting of Turner's syndrome. OBSERVATIONS: A 4-year-old girl with Turner's syndrome was referred for evaluation of a tractional retinal detachment in the right eye. Fundoscopic examination disclosed temporal dragging of...

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Autores principales: Laura, Diana M., Yannuzzi, Nicolas A., Prakhunhungsit, Supalert, Berrocal, Audina M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132148/
https://www.ncbi.nlm.nih.gov/pubmed/32274445
http://dx.doi.org/10.1016/j.ajoc.2020.100662
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author Laura, Diana M.
Yannuzzi, Nicolas A.
Prakhunhungsit, Supalert
Berrocal, Audina M.
author_facet Laura, Diana M.
Yannuzzi, Nicolas A.
Prakhunhungsit, Supalert
Berrocal, Audina M.
author_sort Laura, Diana M.
collection PubMed
description PURPOSE: To report 2 cases of pediatric vitreoretinal disease in the setting of Turner's syndrome. OBSERVATIONS: A 4-year-old girl with Turner's syndrome was referred for evaluation of a tractional retinal detachment in the right eye. Fundoscopic examination disclosed temporal dragging of the macula in the right eye, and vascular nonperfusion in the right and left eyes. Genetic testing revealed a novel frameshift mutation in the LRP5 gene consistent with familial exudative vitreoretinopathy (FEVR). The patient was treated with laser. A 14-year-old girl with Turner's syndrome presented with nyctalopia. Dilated fundus exam disclosed peri-foveal pigmentary changes and peripheral bone spicules. Full-field electroretinography demonstrated decreased rod and cone responses, consistent with retinitis pigmentosa (RP). CONCLUSIONS AND IMPORTANCE: Vitreoretinal disease, including RP and FEVR, is rarely observed in patients with Turner's syndrome.
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spelling pubmed-71321482020-04-09 Select pediatric vitreoretinal disease in the setting of Turner's syndrome Laura, Diana M. Yannuzzi, Nicolas A. Prakhunhungsit, Supalert Berrocal, Audina M. Am J Ophthalmol Case Rep Case Report PURPOSE: To report 2 cases of pediatric vitreoretinal disease in the setting of Turner's syndrome. OBSERVATIONS: A 4-year-old girl with Turner's syndrome was referred for evaluation of a tractional retinal detachment in the right eye. Fundoscopic examination disclosed temporal dragging of the macula in the right eye, and vascular nonperfusion in the right and left eyes. Genetic testing revealed a novel frameshift mutation in the LRP5 gene consistent with familial exudative vitreoretinopathy (FEVR). The patient was treated with laser. A 14-year-old girl with Turner's syndrome presented with nyctalopia. Dilated fundus exam disclosed peri-foveal pigmentary changes and peripheral bone spicules. Full-field electroretinography demonstrated decreased rod and cone responses, consistent with retinitis pigmentosa (RP). CONCLUSIONS AND IMPORTANCE: Vitreoretinal disease, including RP and FEVR, is rarely observed in patients with Turner's syndrome. Elsevier 2020-03-13 /pmc/articles/PMC7132148/ /pubmed/32274445 http://dx.doi.org/10.1016/j.ajoc.2020.100662 Text en © 2020 Published by Elsevier Inc. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
spellingShingle Case Report
Laura, Diana M.
Yannuzzi, Nicolas A.
Prakhunhungsit, Supalert
Berrocal, Audina M.
Select pediatric vitreoretinal disease in the setting of Turner's syndrome
title Select pediatric vitreoretinal disease in the setting of Turner's syndrome
title_full Select pediatric vitreoretinal disease in the setting of Turner's syndrome
title_fullStr Select pediatric vitreoretinal disease in the setting of Turner's syndrome
title_full_unstemmed Select pediatric vitreoretinal disease in the setting of Turner's syndrome
title_short Select pediatric vitreoretinal disease in the setting of Turner's syndrome
title_sort select pediatric vitreoretinal disease in the setting of turner's syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7132148/
https://www.ncbi.nlm.nih.gov/pubmed/32274445
http://dx.doi.org/10.1016/j.ajoc.2020.100662
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