Publications by authors named "O F Chacon-Camacho"
Article Synopsis
- Doyne honeycomb retinal dystrophy (DHRD) is a dominantly inherited eye disease that leads to the buildup of material under the retina, affecting vision over time.
- It is primarily caused by a specific genetic mutation in the EFEMP1 gene, with the common variant being p.Arg345Trp.
- This text also discusses a unique case in a family where a different EFEMP1 variant causes both juvenile glaucoma and DHRD, widening our understanding of the genetic causes of these eye conditions.
The purpose of this study was to analyze and molecularly describe the largest group of patients with ABCA4-associated retinal degeneration in Latin America. Pathogenic variants in ABCA4, a member of the ATP Binding Cassette (ABC) transporters superfamily, is one of the most common causes of inherited visual deficiency in humans. Retinal phenotypes associated with genetic defects in ABCA4 are collectively known as ABCA4-associated retinal degenerations (ABCA4R), a group of recessively inherited disorders associated with a high allelic heterogeneity.
View Article and Find Full Text PDFBackground: Fleck corneal dystrophy (FCD) is a rare autosomal dominant disease that affects exclusively the corneal stroma. The disease is caused by heterozygous variants in PIKFYVE, a gene encoding a lipid kinase involved in multiple cellular pathways, primarily participating in membrane dynamics and signaling. This report describes a familial case of FCD caused by a complete deletion of the PIKFYVE gene.
View Article and Find Full Text PDFArticle Synopsis
- - Primary congenital glaucoma (PCG) is a significant cause of vision loss in children, characterized by high intraocular pressure leading to optic nerve damage and various symptoms like excessive tearing and light sensitivity.
- - Diagnosis and treatment are crucial for preserving vision in affected individuals, as PCG can manifest in diverse ways among patients.
- - The study focuses on Mexican patients with TEK-related PCG, identifying the TEK gene as a key factor in the disease and reporting 10 new mutations that contribute to its development.
Background: Diabetic retinopathy (DR) risk has been shown to vary depending on ethnic backgrounds, and thus, it is worthy that underrepresented populations are analyzed for the potential identification of DR-associated genetic variants. We conducted a case-control study for the identification of DR-risk variants in Mexican population.
Methods: We ascertained 60 type 2 diabetes mellitus (T2DM) patients.