Preliminary identification of pathogenic variants in an Afro-Colombian Raizal family with risk factors for glaucoma.

Objective: To identify pathogenic variants in an Afro-Colombian family with risk factors for glaucoma.

Methods: In the present study, whole exome sequencing was performed on seven members of a Raizal family from the archipelago of San Andrés, Providencia, and Santa Catalina, in the Caribbean region of Colombia. Four of them had been diagnosed with glaucoma.

Prevalence and risk factors for primary angle-closure disease spectrum: The Colombian glaucoma study.

Purpose: To estimate the prevalence and risk factors associated with the primary angle-closure disease spectrum in participants of the Colombian Glaucoma Study.

Methods: A cross-sectional study in subjects older than 50 years with a diagnosis of diabetes mellitus or/and systemic hypertension was conducted in Colombia to estimate glaucoma prevalence. This study included 1749 patients and classified them using gonioscopy into either open-angle or primary angle-closure disease spectrum groups.

Genetic variant affecting the myosin light chain 2 related to familial hypertrophic cardiomyopathy.

Familial hypertrophic cardiomyopathy (FHCM) is a genetic disease characterized by left ventricle (LV) or interventricular septum hypertrophy. FHCM is a common heart disease (affecting 1 out of 500 individuals) associated with genetic variants in genes related to the sarcomere, including the (myosin light chain 2) gene that is affected in 1 to 3% of the cases. As described in this report, the genetic mutation p.

Optic nerve coloboma as extension of the phenotype of 22q11.23 duplication syndrome: a case report.

Background: 22q11.2 duplication syndrome (Dup22q11.2) has reduced penetrance and variable expressivity.