ArticleCase reports in ophthalmological medicine2015
Brittle Cornea Syndrome: Case Report with Novel Mutation in the PRDM5 Gene and Review of the Literature.
Article in Case reports in ophthalmological medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.
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Who cites it
14 citing papers in PubMed, 1 synthesis or guideline pooled it, 16 citations in OpenAlex.
- Vascular phenotypes in nonvascular subtypes of the Ehlers-Danlos syndrome: a systematic review.Genetics in medicine : official journal of the American College of Medical Genetics · 2018Pooled it
- Brittle Cornea Syndrome: Molecular Diagnosis and Management.Diagnostics (Basel, Switzerland) · 2025Article
- Homozygous Val6Gly Variation inMolecular syndromology · 2023Article
- [Surgical treatment options for congenital/infantile corneal opacities and anterior segment dysgenesis].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2022Review
- Surgical technique for the management of corneal perforation in brittle cornea.Indian journal of ophthalmology · 2021Article
- A mouse model of brittle cornea syndrome caused by mutation in Zfp469.Disease models & mechanisms · 2021Article
- Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.Developmental dynamics : an official publication of the American Association of Anatomists · 2021Review
- Case report of aIndian journal of ophthalmology · 2020Article
- Brittle cornea syndrome: current perspectives.Clinical ophthalmology (Auckland, N.Z.) · 2019Article
- Brittle cornea syndrome: a case report and review of the literature.BMC ophthalmology · 2018Review
- From Structure to Phenotype: Impact of Collagen Alterations on Human Health.International journal of molecular sciences · 2018Review
- Unusual case of globe perforation: the brittle cornea without systemic manifestations.BMJ case reports · 2016Article
- [Intraoperative optical coherence tomography for examination of newborns and infants under general anesthesia].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2016Review
- Brittle cornea syndrome: Integrating unique presentations and novel management options.Oman journal of ophthalmologyArticle
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A 3-year-old boy presented with acute corneal hydrops on the left eye and spontaneous corneal rupture on the right eye. A diagnosis of brittle cornea syndrome was confirmed by molecular analysis. A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. Almost all patients suffer from declined vision due to corneal scarring, thinning, and rupture. The most common ophthalmologic findings include keratoconus, progressive central corneal thinning, high myopia, irregular astigmatism, retinal detachment, and high risk for spontaneous corneal or scleral rupture. In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy.
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Registered trials
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