Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the
Angle-closure glaucoma
Recessive ADAMTS17 variants
Weill-Marchesani syndrome 4
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:
Jun 2022
Jun 2022
Historique:
received:
25
08
2021
revised:
26
03
2022
accepted:
11
04
2022
entrez:
2
5
2022
pubmed:
3
5
2022
medline:
3
5
2022
Statut:
epublish
Résumé
To retrospectively report a case of Weill-Marchesani syndrome 4 (WMS4) with compound heterozygous variants of The patient was a 7-year-old boy with progressively worsening eyesight and intermittent elevated intraocular pressure (IOP) for two years. His IOPs were temporarily controlled using anti-glaucoma drugs. At presentation he had a shallow anterior chamber, lens subluxation, spherophakia and extensive synechial angle closure with high myopia in both eyes. Ultrasound biomicroscopy (UBM) identified thickened zonule fibers and anteriorly rotated, flat and slender ciliary processes, both of which worsened and were accompanied by obvious iris bombe after miosis. Gene testing showed compound heterozygosity of a maternal submicroscopic deletion on chromosome 15q26.3 (0.774 Mb) affecting the sequences of Recessive
Identifiants
pubmed: 35496767
doi: 10.1016/j.ajoc.2022.101541
pii: S2451-9936(22)00287-0
pmc: PMC9046107
doi:
Types de publication
Case Reports
Langues
eng
Pagination
101541Informations de copyright
© 2022 The Authors.
Déclaration de conflit d'intérêts
The authors declare that they have no conflicts of interest.
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