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Coloboma and CHARGE association in Puerto Rico
Javier Jardón1, Natalio J Izquierdo
1UPR School of Medicine, University of Puerto Rico, Rio Piedras, Puerto Rico.
Boletin De La Asociacion Medica De Puerto Rico
|December 4, 2009
Summary
This study found that over half of patients with coloboma in Puerto Rico also had CHARGE association, a condition causing various congenital anomalies. This highlights the importance of recognizing these overlapping conditions in clinical practice.
Area of Science:
- Ophthalmology
- Genetics
- Pediatrics
Background:
- CHARGE association is a genetic disorder characterized by multiple congenital anomalies.
- Previous research identified key features of CHARGE association, including coloboma, heart defects, choanal atresia, genital and ear anomalies, alongside ocular findings like poor visual acuity, refractive errors, and cataracts.
- Ocular manifestations in CHARGE association patients can significantly impact vision and require specialized management.
Purpose of the Study:
- To investigate the prevalence of CHARGE association in patients with coloboma in Puerto Rico.
- To describe the ocular and systemic findings in this patient cohort.
- To contribute to the understanding of CHARGE association in a specific geographic region.
Main Methods:
- A non-concurrent prospective study was conducted.
- The study included 13 patients diagnosed with coloboma from Puerto Rico.
- Data on ocular and systemic findings were collected and analyzed.
Main Results:
- Seven out of 13 patients (53.8%) with coloboma were diagnosed with CHARGE association.
- The age range of participants was 10 to 84 years, with a mean age of 38 years.
- Common ocular findings included nystagmus, strabismus, poor visual acuity, refractive errors, microcornea, cataracts, glaucoma, and dry eyes.
- Systemic findings observed in patients with CHARGE association were heart defects, ear anomalies, and endocrine problems.
Conclusions:
- This study reports the first case series of patients with coloboma and CHARGE association in Puerto Rico and the Caribbean basin.
- The findings underscore a significant co-occurrence of coloboma and CHARGE association in the studied population.
- Early identification and comprehensive management of both coloboma and CHARGE association are crucial for affected individuals.
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