Identification of the FOXC1 and PITX2 gene in Axenfeld–Rieger syndrome with family association in the Mexican population

Session Details

Session Title: Presented Poster Session: Medical Cornea

Venue: Poster Village: Pod 3

First Author: : D.Delgado Arellano MEXICO

Co Author(s): :    E. Chavez   M. Garzon   O. Chacon Camacho   J. Zenteno              

Abstract Details

Purpose:

To know the most frequent diagnosis age, its ophthalmological and systemic clinical characteristics, family association, in an ophthalmological reference hospital in Mexico. Ophthalmology Institute "Conde de Valenciana", from 2002 - 2018.

Setting:

It is a cross-sectional and descriptive study in which a single measurement (genotyping) was performed in subjects with clinical criteria of ARS

Methods:

The files of patients of the Institute of Ophthalmology Private Assistance Foundation "Conde de Valenciana" who have diagnosis of Axenfeld Rieger Syndrome will be studied. The demographic data, as well as the ophthalmological exploration, will be collected from the first visit, the clinical or genetic diagnosis will be searched, and if it shares family members with dysgenesis of the anterior segment.

Results:

There were 58 subjects with diagnosis with SRA (Axenfeld Rieger Syndrome), The youngest patient was 0 years old, the oldest patient was 70 years old and the average of age were 21.7. The main signs  were polycoria, embriotoxon and corectopia.

Conclusions:

The spectrum of Axenfeld-Rieger malformation is inherited in an autosomal dominant manner and demonstrates locus heterogeneity with two major genes, PITX2 and FOXC1. We identified 8 families of which those who shared the PITX2 mutation had all the characteristics included in the syndrome but did not develop glaucoma of difficult control.

Financial Disclosure:

None