A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome

PURPOSE: To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS). OBSERVATIONS: An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with features of macroglossia, neonatal hypoglycaemia and...

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Autores principales: Alnefaie, Maram, Jefri, Mona, Almahmoudi, Fayqah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220324/
https://www.ncbi.nlm.nih.gov/pubmed/34189344
http://dx.doi.org/10.1016/j.ajoc.2021.101150
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author Alnefaie, Maram
Jefri, Mona
Almahmoudi, Fayqah
author_facet Alnefaie, Maram
Jefri, Mona
Almahmoudi, Fayqah
author_sort Alnefaie, Maram
collection PubMed
description PURPOSE: To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS). OBSERVATIONS: An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with features of macroglossia, neonatal hypoglycaemia and an unusual finding of partial iris hypopegmentaion in her left eye. CONCLUSIONS: This is the first reported case of iris heterochromia in a BWS patient. Further studies are needed to support the association between eye findings and BWS related genetic defects.
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spelling pubmed-82203242021-06-28 A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome Alnefaie, Maram Jefri, Mona Almahmoudi, Fayqah Am J Ophthalmol Case Rep Case Report PURPOSE: To report a case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome (BWS). OBSERVATIONS: An 8-month-old girl known case of BWS, due to hypomethylation of the DMR2 (KCNQ1OT1) on chromosome 11p15.5, with features of macroglossia, neonatal hypoglycaemia and an unusual finding of partial iris hypopegmentaion in her left eye. CONCLUSIONS: This is the first reported case of iris heterochromia in a BWS patient. Further studies are needed to support the association between eye findings and BWS related genetic defects. Elsevier 2021-06-16 /pmc/articles/PMC8220324/ /pubmed/34189344 http://dx.doi.org/10.1016/j.ajoc.2021.101150 Text en © 2021 The Authors. Published by Elsevier Inc. https://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
Alnefaie, Maram
Jefri, Mona
Almahmoudi, Fayqah
A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome
title A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome
title_full A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome
title_fullStr A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome
title_full_unstemmed A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome
title_short A case of unilateral sectoral iris heterochromia in an infant with Beckwith-Wiedemann syndrome
title_sort case of unilateral sectoral iris heterochromia in an infant with beckwith-wiedemann syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8220324/
https://www.ncbi.nlm.nih.gov/pubmed/34189344
http://dx.doi.org/10.1016/j.ajoc.2021.101150
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