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Tania Albavera, Valeria Oliva, Alejandro Navas, Oscar Chacon, Juan Carlos Zenteno, Enrique O Graue-Hernandez, Mirena Astiazarán, Antonio Bermudez; A novel CYP1B1 mutation with the Von Hippel’s description of an internal corneal ulcer phenotype. Invest. Ophthalmol. Vis. Sci. 2017;58(8):968.
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© ARVO (1962-2015); The Authors (2016-present)
To report a mutation of CYP1B1 in a new born with a rare phenotype consisting of bilateral corneal opacification and elevated intraocular pressure without the classic features of a dysgenesis of anterior segment or congenital glaucoma
The new born presented with diffuse corneal edema and bilaterally elevated IOP. Ophthalmological examination, ultrasound and UBM were performed, congenital infections were ruled out. Genomic DNA of the patient and both of his parents was extracted from peripheral blood leukocytes according to standard procedures. The 2 coding exons and the flanking intronic regions of the CYP1B1 gene were amplified by PCR. Direct automated Sanger sequencing was performed. All samples were analyzed in a3130 Genetic Analyzer. Wild type and mutated CYP1B1 sequences were compared manually. The patient underwent penetrating keratoplasty and goniotomy in a single surgical time. The button was subjected to histopathological examination. Findings and outcomes were recorded
The patient is the first child of young, healthy, consanguineous parents. In the ophthalmological examination the VA was light Perception for both eyes. IOP was 55 and 45 mmHg respectively. Corneal diameter was 10mm for both eyes. Ultrasound reported an optic cup suggestive of glaucoma. In the UBM corneal thickness was 3.23 and 3.42mm respectively and keratoiridolenticular dysgenesis were not found. CYP1B1 gene analysis demonstrated homozygosity for a 1bp deletion in exon 2 (c.830delT). This pathogenic variant is predicted to result in a frameshift and introduction of a premature stop codon immediately after the deletion site (p.L277*). Parental DNA analysis demonstrated that both parents were heterozygous carriers for the same variant. After PKP and goniotomy IOP was normalized and corneal button was clear. Histophatological examination of the corneal button revealed loss of Bowman’s membrane in the central cornea, fibrosis of the stroma, absence of endothelial cells and loss of Descemet’s membrane centrally
This study supports the role of CYP1B1 as a causative gene in anomalies of the anterior segment. Furthermore, this emphasizes the broad range of phenotypic expression for CYP1B1 mutations and its role in eye development. The mutation reported in this study is not present in public variant databases. There is scant evidence of a CYP1B1 mutation with this phenotipic presentation
This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.
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