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.

Department of Ophthalmology 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic

Research Unit for Rare Diseases 1st Faculty of Medicine Charles University and General University Hospital Prague Prague Czech Republic 1st Faculty of Medicine Charles University Prague Czech Republic

UCL Institute of Ophthalmology London United Kingdom

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Genotype-Phenotype Correlations in Corneal Dystrophies: Advances in Molecular Genetics and Therapeutic Insights