RESUMEN
Purpose: To report on a patient with Stargardt disease (STGD1) and with an intronic mutation in the ABCA4 gene. Patients and Methods: A 69-year-old female patient presented to the clinic complaining of progressive vision loss. The ophthalmic evaluation was remarkable for a best corrected visual acuity of counting fingers at 5' in the right eye and 3' in the left eye. Imaging revealed deep extensive atrophy of the central macula, epithelial pigment hyperplasia, and other areas of multifocal atrophy in the right eye. Furthermore, fundus autofluorescence imaging of the macula showed central hypoautofluorescence with bilateral expansion to the periphery in both eyes. A full-field electroretinogram showed a normal rod response, with decreased cone response, bilaterally. Genetic testing was positive for a homozygous intronic mutation in the ABCA4 gene of the variant c.5714+5G>A. Conclusions and Importance: Patients with STGD1 due to presumed mild or moderate mutations in the ABCA4 gene may have a more severe presentation and progression of the disease. Based on this, the first report of a genotype-phenotype correlation in a Puerto Rican patient with STGD1 disease, genotyping all Puerto Rican patients is warranted.
RESUMEN
Endophthalmitis treatment consists of intravitreal antibiotics injections and, in selected circumstances, pars plana vitrectomy. However, severe or refractory cases may require an enucleation or evisceration (ENEV). Our study seeks to identify risk factors leading to enucleation or evisceration in patients with infectious endophthalmitis. A retrospective chart review of subjects with a clinical diagnosis of infectious endophthalmitis was undertaken. The affected eyes were stratified into groups: those that underwent ENEV and those in which the eyeball was preserved (EP). The groups were compared using statistical analyses. In total, 69 eyes diagnosed with infectious endophthalmitis were included in the study. There was a higher frequency of exogenous infectious endophthalmitis in the ENEV group versus the EP group. Postsurgical infectious endophthalmitis was lower in the ENEV than in the EP group. A visual acuity of no light perception was more common in the ENEV compared to the EP group. Panophthalmitis was more frequent in the ENEV versus the EP group. Our findings suggest that eyes with endophthalmitis presenting with a visual acuity of no light perception, panophthalmitis, or exogenous etiology have a higher risk of requiring ENEV. In addition, eyes with a postsurgical etiology may be at a lower risk of requiring ENEV.