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Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3

Dudakova, L; Skalicka, P; Davidson, A; Liskova, P; (2019) Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3. Cornea , 38 (6) pp. 758-760. 10.1097/ICO.0000000000001930. Green open access

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Abstract

Purpose: To report a simultaneous occurrence of 2 rare corneal dystrophies. / Methods: A 30-year-old man with a family history of posterior polymorphous corneal dystrophy type 3 (PPCD3) was invited for ophthalmic examination. Sanger sequencing of the coding regions and intron/exon boundaries of disease-associated genes, ZEB1 and UBIAD1, was performed. / Results: The clinical findings suggested co-occurrence of PPCD3 and Schnyder corneal dystrophy in the proband. This dual diagnosis was supported by genetic findings. He was identified to carry a previously reported heterozygous nonsense mutation in ZEB1: c.2157C>G; p.(Tyr719*), and a novel heterozygous missense mutation in UBIAD1: c.569T>C; p.(Ile190Thr). The mother of the proband only carried c.2157C>G in ZEB1, and slit-lamp examination of her corneas showed endothelial lesions characteristic of PPCD3. The sister of the proband carried c.569T>C in UBIAD1 and had corneal crystal deposition in her anterior stroma consistent with the diagnosis of Schnyder corneal dystrophy. / Conclusions: This case illustrates the coincidental occurrence of 2 rare and genetically distinct corneal dystrophies in a single patient. Furthermore, it highlights the need to perform comprehensive phenotyping in combination with appropriate genetic diagnostic testing to achieve an accurate diagnosis.

Type: Article
Title: Coincidental Occurrence of Schnyder Corneal Dystrophy and Posterior Polymorphous Corneal Dystrophy Type 3
Open access status: An open access version is available from UCL Discovery
DOI: 10.1097/ICO.0000000000001930
Publisher version: http://doi.org/10.1097/ICO.0000000000001930
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: posterior polymorphous corneal dystrophy, Schnyder corneal dystrophy, coincidental findings, ZEB1, UBIAD1
UCL classification: UCL
UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > Institute of Ophthalmology
URI: https://discovery.ucl.ac.uk/id/eprint/10067838
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