RESUMEN
In this critical analysis, we investigate the profound impact of natural disasters and pandemics on the care and adherence to treating diabetic retinopathy, a severe complication of diabetes requiring continuous monitoring and treatment to prevent vision loss. Our study also sheds light on the social and economic context of Puerto Rico, emphasizing recent emergency events that have exacerbated existing public health challenges. Through a comprehensive review of relevant literature from PubMed, Google Scholar, and the George Washington University Himmelfarb Health Sciences Library database, we identified 31 pertinent articles out of 45 evaluated, focusing on the effects of these crises on healthcare delivery, diabetic retinopathy screening, and treatment. The evidence strongly indicates that during such emergencies, barriers to healthcare escalate, leading to significant treatment delays and a reduction in diabetic retinopathy screening and diagnosis, ultimately resulting in deteriorated visual outcomes. Thus, our review underscores the urgent need for the development of effective emergency plans tailored specifically to diabetic retinopathy, particularly in Puerto Rico, where diabetes prevalence and its complications are notably higher. Such plans should not only incorporate established emergency measures but also harness emerging technological advances in the field of ophthalmology to ensure optimal preparedness for future pandemics and natural disasters.
RESUMEN
Compound heterozygous mutations, where two distinct mutated alleles are present within a particular gene, can give rise to the Bardet-Biedl syndrome (BBS). There is limited evidence suggesting that some compound heterozygotes can present with milder phenotypic characteristics than homozygotes. We report on the clinical characteristics of a 22-year-old Puerto Rican male who was compound heterozygous for the Bardet-Biedl syndrome type 1. Our patient had deteriorating visual acuity since early childhood. Clinical and ophthalmic examination revealed retinal dystrophy, polydactyly, and very mild learning disabilities. No additional systemic complications commonly observed in patients with the BBS were present. Allele-specific testing and DNA sequencing revealed compound heterozygous mutations (M390R and E549X) in the BBS1 gene. Our findings could suggest that patients who are compound heterozygotes for these specific BBS mutations can exhibit milder clinical signs than homozygous patients.