A Laboratory Study on the Molecular Basis of Primary Congenital Glaucoma
Journal Title: Journal of Clinical Research and Ophthalmology - Year 2018, Vol 5, Issue 1
Abstract
Purpose: To detect pathogenic mutations in cytochrome P450 family1 subfamily B polypeptide1 (CYP1B1) gene in nineteen sporadic Primary congenital glaucoma (PCG) cases and to identify patients lacking CYP1B1 mutations. Methods: CYP1B1 exon 2 and the coding part of exon 3 of 15 participants were amplified by Polymerase chain reaction and amplicons were sequenced by Sanger sequencing. Sequencing data was analyzed to identify the gene mutations or Single Nucleotide Polymorphisms SNPs. Results: Four previously reported PCG-associated CYP1B1 mutations (c.1159G>A; p.E387K, c.230T>C; p.L77P, c.1103G>A; p.R368H and c.1568G>A; p.R523K) were found in four patients out of the 15 fully ‘sequenced’ patients. Also, ten previously reported Single Nucleotide Polymorphisms and two novel noncoding variants were identified. Conclusion: The relatively low percentage of PCG patients having CYP1B1 mutations (4/15=26.6%) demonstrates that other known and unknown genes may contribute to PCG pathogenesis. Lack of CYP1B1 gene mutations in some patients stresses the need to identify other responsible candidates.
Authors and Affiliations
Ihesiulor Grand Chikezie, Manson Forbes, Ubani Udo Ahanna
Keywords
Related Articles
- EP ID EP301243
- DOI 10.17352/2455-1414.000049
- Views 107
- Downloads 0
Local Allergic Reaction to Ocular Chloramphenicol Ointment: A Diagnosis by High Index of Clinical Suspicion
Chloramphenicol is a widely used topical ointment applied routinely for ocular and periorbital infections due to its wide spectrum of anti-bacterial activity. Local delayed hypersensitivity reaction to chloramphenicol is...
Study of Hypermetropia in a Senegalese Hospital
The cases of hypermetropia in patients aged 5 to 40 years were studied at Aristide Le Dantec hospital in Dakar. There are 85 patients including 28 men and 57 women. The average age was 22 years old. Headache was the most...
Bilateral iris, lens and Chorioretinal Coloboma: A Case Report
Colobomas are genetic malformations due to lack of closure of the embryonic fissure. These are rare malformations that can sit at any level of the eye. Colobomas can be uni or bilateral, sporadic or hereditary. It may be...
Relationship of Serum HbA1c and Fasting Serum Lipids with Central Macular Thickness in Patients with Type 2 Diabetes Mellitus
Background: Diabetic retinopathy, the most common retinal vascular disease, is the leading cause of new-blindness in adults during the third through sixth decades of life. Purpose: To determine the correlation between ce...
Hydro-visco-implantation Technique for Wound-assisted Foldable Intraocular Lens Implantation During Microincision Cataract Surgery
We have described a hydro-visco-implantation technique (simultaneous use of sodium hyaluronate and balanced salt solution) for wound-assisted intraocular lens (IOL) implantation and passive removal of ophthalmic viscosur...