Objective:

To describe clinical and epidemiological characteristics of patients with primary congenital glaucoma at the Institute of Ophthalmology Foundation of Private Assistance Conde de Valenciana, IAP.

Method:

A retrospective evaluation of the clinical records of patients diagnosed with primary congenital glaucoma from January 2008 to June 2018 was performed. In every analyzed case the diagnosis was established by a glaucoma specialist. Data collected included sex, laterality, place of origin, age at the moment of diagnosis, clinical profile, familial history of disease and genetic analysis of CYP1B1.

Results:

84 patients were analyzed. The most common sex was male, 67% (56 patients). The glaucoma was bilateral in 74% (62 patients. The most common place of origin was the State of Mexico, 33% (28 patients). The age of diagnosis was 1-24 months in 69% (58 patients). The most common symptom was lacrimation, 77% (65 patients) and the sign megalocornea in 62% (62 patients). For hereditary family history, only 10% (9 patients) had them. Finally, of the 84 patients, CYP1B1 was evaluated in 24, of which four patients had a mutation for CYP1B1.

Conclusions:

This is the largest published series of primary congenital glaucoma in Mexico. In the studied population, sporadic cases account for the majority of cases, and only 17% had positivity for the CYP1B1 gene.

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