Atypical Unilateral Birdshot Chorioretinitis in a Hispanic Female.

A 62-year-old female patient was evaluated for gradual vision loss, floaters, and photopsia in her left eye. A left fundus examination revealed vitreous cells, hypopigmented lesions, and retinal vasculitis, and a workup revealed a positive HLA-A29 serology, all of which findings were consistent with birdshot chorioretinopathy. The patient was treated with oral prednisone and mycophenolate mofetil, which resulted in the adequate control of her uveitis. Even though unilateral cases are exceedingly rare and do not meet the established research criteria, this case highlights the importance of not minimizing the significance of birdshot lesions in the differential of patients with unilateral multifocal chorioretinitis.

Characteristics Upon Presentation of Patients with Type 2 Macular Telangiectasia in Puerto Rico.

OBJECTIVE: To describe the systemic disease associations and clinical features upon initial presentation of a cohort of patients with type 2 macular telangiectasia who live in Puerto Rico. METHODS: A retrospective review of patients with macular telangiectasia was performed in 4 private retina practices in Puerto Rico. The demographic and clinical characteristics were recorded. RESULTS: Twenty-one patients who were diagnosed with macular telangiectasia were included in the analysis. The median age of presentation was 62 years; 86% were female, and all patients were Hispanics. The median visual acuity at presentation was 20/50. A prior medical diagnosis of type II diabetes mellitus was found in 15 (71.4%) patients, essential hypertension in 12 (57.1%), and dyslipidemia in 9 (42.9%). All patients had bilateral disease. The most common ocular findings were the presence of right-angle vessels in 32 (76.2%) eyes and angiographic hyperfluorescence temporal to the fovea, found in 22 (52.4%) of the affected eyes. One eye had evidence of choroidal neovascularization. CONCLUSION: Our cohort showed a higher prevalence of type 2 diabetes in patients with type 2 macular telangiectasia than in other cohorts. It also supports the findings of other studies showing that macular telangiectasia patients are more likely to have type 2 diabetes and hyperlipidemia. However, the increased prevalence of diabetes and hyperlipidemia may be due to selection bias, and further studies are needed to assess the significance of these findings.

A Genotype-Phenotype Analysis of the Bardet-Biedl Syndrome in Puerto Rico.

BACKGROUND: Bardet-Biedl syndrome is a complex heterogeneous ciliopathy caused by genetic mutations. Although establishing genotype-phenotype correlations has been challenging, some regional variations have been previously reported. Due to its relative geographic isolation, Puerto Rico has a greater prevalence of Bardet-Biedl syndrome than do other regions. We sought to characterize the most frequent genotypic variations in a local cohort of Bardet-Biedl syndrome patients and report any genotypic-phenotypic trends. METHODS: Twenty-seven patients from an ophthalmology clinic in Puerto Rico with genetically confirmed Bardet-Biedl syndrome took a questionnaire inquiring about their most common symptoms. Ophthalmological information was obtained from patient records. The frequencies of the genotypic variations and symptoms were calculated. RESULTS: In the study population, BBS1 was the most prevalent mutated gene, followed by BBS7. In the BBS1 group, we found homozygotes for c.1169T>G (p.Met390Arg) and c.1645G>T (p.Glu549*), and compound heterozygotes for c.1169T>G (p.Met390Arg) and c.1645G>T (p.Glu549*), with one patient having c.1645G>T (p.Glu549*) and c.432+1G>A (splice donor). All the BBS7 patients were homozygous for c.632C>T (p.Thr211Ile). Compared to BBS7, we found that BBS1 patients generally had a milder ocular and systemic phenotype. However, when analyzing different BBS1 variants, patients with mutations in c.1645G>T (p.Glu549*), both compound heterozygous and homozygous, had more severe systemic phenotypes, overall. CONCLUSION: Our study was the first detailed genotype-phenotype analysis of the Bardet-Biedl syndrome in Puerto Rico. Genetic mutations in BBS1 and BBS7 seem to be the most common culprits behind Bardet-Biedl syndrome in this population. Although patients diagnosed with BBS1 are likely to display milder systemic features, this was not the case with our BBS1 patients having the c.1645G>T (p.Glu549*) mutation. Further studies should focus on the c.1645G>T (p.Glu549*) mutation's impact on the BBS1 gene and protein product.

Characteristics, Upon Presentation, of a Cohort of Patients with Vogt-Koyanagi-Harada Disease in Puerto Rico.

OBJECTIVE: To describe the clinical features, upon initial presentation, of a cohort of patients with Vogt-Koyanagi-Harada (VKH) disease who live in Puerto Rico. METHODS: A retrospective medical record review of patients with VKH was performed. The demographic and clinical characteristics were analyzed. RESULTS: Twenty-two patients who met the diagnostic criteria for VKH were identified and included in the analysis. The median age at presentation was 41 years; 68.2% were female, and all patients were Hispanics. Bilateral disease was present in 90.9% of patients, and 59.1% of patients were categorized as having probable VKH. A headache was reported in 54.5% of patients and was the most common complaint at the time of presentation; the second most common complaint was tinnitus, which was present in 22.7% of patients. Vitiligo, alopecia, and meningismus were each preset in 9.1% of patients while hearing loss and aseptic meningitis were each reported in 4.5% of patients. Seventy-seven percent of patients had either topical or systemic corticosteroid use prior to the initial encounter. CONCLUSION: Our study suggests that in Puerto Rico, patients with Vogt-Koyanagi-Harada disease may have a distinctive prevalence of characteristics at the presentation when compared to other ethnic groups, including other Hispanic cohorts.

Characteristics, Upon Presentation, of a Cohort of Hispanic Patients with Birdshot Retinochoroidopathy.

OBJECTIVE: To describe the characteristics, upon presentation, of a cohort of Hispanic patients with birdshot retinochoroidopathy. METHODS: A retrospective chart review of Hispanic patients with birdshot retinochoroidopathy of was performed. The demographic and clinical characteristics were analyzed. RESULTS: Nine patients who met the research criteria for a diagnosis of birdshot retinochoroidopathy were identified and included in the analysis, all of whom were HLA-A29 positive. The median age of the cohort upon presentation was 52 years; 89% of the patients were female, and all were Hispanics. Ninety-four percent of the eyes had an initial visual acuity of 20/50 or better, while 72% had measured 20/25 or better. Sixty-one percent of the eyes had retinal vasculitis, which was bilateral in 83% of the cases. Thirty-three percent of the patients had, upon presentation, evidence of cystoid macular edema, which was always bilateral. All the eyes had the typical birdshot lesions, at presentation. CONCLUSION: Birdshot retinochoroidopathy can be found in Hispanic patients. Our study suggests that the characteristics upon presentation in Hispanics may be similar to those of Caucasian cohorts.

Retinal hemorrhages and intermediate uveitis in a patient with drug reaction with eosinophilia and systemic symptoms syndrome: a case report.

PURPOSE: To report a case of drug reaction (or rash) with eosinophilia and systemic symptoms syndrome in association with intraretinal hemorrhages and intermediate uveitis. METHODS: Single case report. RESULTS: A 22-year-old Hispanic woman developed a facial rash and blurry vision after the use of oral trimethoprim-sulfamethoxazole for a urinary tract infection. Fundus examination revealed bilateral +2 vitritis and intraretinal hemorrhages in all four quadrants. An oral mucosal biopsy revealed V-shaped coagulative necrosis, intraepithelial and superficial acute and lymphoplasmacytic inflammation, consistent with drug hypersensitivity reaction. CONCLUSION: Drug reaction (or rash) with eosinophilia and systemic symptoms syndrome can present as cutaneous rash, mucosal lesions, eosinophilia, intermediate uveitis, and intraretinal hemorrhages. In such cases, vitreoretinal manifestations may be considered as diagnostic criteria instead visceral involvement.