Clinical and imaging findings of choroideremia in a pediatric patient due to a novel frameshift mutation.
Choroideremia
Fundus autofluorescence
Retinal dystrophy
Journal
American journal of ophthalmology case reports
ISSN: 2451-9936
Titre abrégé: Am J Ophthalmol Case Rep
Pays: United States
ID NLM: 101679941
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
received:
01
05
2022
revised:
15
09
2022
accepted:
02
10
2022
entrez:
17
10
2022
pubmed:
18
10
2022
medline:
18
10
2022
Statut:
epublish
Résumé
To describe the clinical characteristics, imaging findings and genetic testing results of a young simplex male with choroideremia. A 6-year-old Hispanic-Chinese male was referred to the retina clinic for peripheral retinal pigmentary changes observed in both eyes on routine exam. The patient has an unremarkable family history and developmental history. Best corrected visual acuity was 20/25 in both eyes. Optical coherence tomography demonstrated attenuation of the ellipsoid and interdigitation zones. Widefield fundus autofluorescence demonstrated nummular hypo-autofluorescence peripherally in both eyes. Genetic testing revealed a variant originally described as a variant of uncertain significance (VUS) a c. 1775_1814del (p.Glu592Valfs*44) identified in the The multimodal imaging findings demonstrated here illustrate important clues to the diagnosis of Choroideremia in a simplex male.
Identifiants
pubmed: 36247208
doi: 10.1016/j.ajoc.2022.101718
pii: S2451-9936(22)00464-9
pmc: PMC9562444
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101718Subventions
Organisme : NEI NIH HHS
ID : K08 EY032991
Pays : United States
Informations de copyright
© 2022 The Authors. Published by Elsevier Inc.
Déclaration de conflit d'intérêts
The following authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper: MM, DS. ATF owns stock in Ionis Pharmaceuticals and is a consultant for Janssen Pharmaceuticals. KB is a consultant for Biogen, ProQR Therapeutics, and Janssen. AC is a consultant for Novartis, consultant for Synergetics, founder and equity owner of FocusROP and Retinal Solutions.
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