Publications by authors named "Marion A Cid-Garcia"
Am J Med Genet A
January 2025
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.
Am J Med Genet A
October 2024
Article 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.
