ArticleAmerican journal of ophthalmology case reports2022
Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the
Article in American journal of ophthalmology case reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Review
- Key Proteins for Regeneration inScientifica · 2024Article
- The mechanism and therapeutic strategies for neovascular glaucoma secondary to diabetic retinopathy.Frontiers in endocrinology · 2023Review
- Novel homozygousInternational journal of ophthalmology · 2023Article
- Abnormal lens thickening in a child with Weill-Marchesani syndrome 4: A 3-year follow-up case report.Frontiers in medicine · 2022Article
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Authors and funding
6 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose: To retrospectively report a case of Weill-Marchesani syndrome 4 (WMS4) with compound heterozygous variants of Observations: 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 Conclusion and Importance: Recessive
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