Ultra-widefield fundus autofluorescence imaging in patients with autosomal recessive retinitis pigmentosa reveals a genotype-phenotype correlation.

PURPOSE: To analyze the genotype-phenotype correlation in patients with retinitis pigmentosa (RP) caused by mutations in the FAM161A, DHDDS, or MAK genes using ultra-widefield fundus autofluorescence (UWF-FAF) imaging. METHODS: Retrospective case series of patients with autosomal recessive RP (ARRP) with confirmed causative genetic mutations and available UWF-FAF imaging data. The UWF-FAF data were graded in a blinded fashion using the following criteria: the pattern of macular abnormalities on FAF, the presence or absence of horizontal linear hyperautofluorescence, the extent of decreased autofluorescence (DAF), the shape of DAF, and the presence of hyperautofluorescence at the optic disk. RESULTS: A total of 43 patients (mean age of 47 ± 16 years, ranging from 17 to 79 years) with ARRP (86 eyes) were included in our analysis. Genotyping data revealed biallelic mutations in the FAM161A, DHDDS, and MAK genes in 20, 12, and 11 patients, respectively. We found significant differences between the three groups with respect to the pattern of macular abnormalities on FAF (p = 0.001), DAF configuration (p = 0.007), and extent of DAF (p = 0.037). The largest difference between groups was found for macular abnormalities on FAF, with DHDDS patients differing significantly from the MAK and FAM161A groups (p = 0.001). Specifically, DHDDS patients had a more abnormal macular FAF pattern and more widespread decrease in peripheral autofluorescence. No other parameters differed significantly between the three groups. CONCLUSIONS: Patients with ARRP can present with specific UWF-FAF patterns based on the underlying causative gene. Future studies are warranted in order to expand this analysis to include additional genes, mutations, and patients as well as assessment of disease progression by following patients over longer periods of time.

Correlation of response to intravitreal bevacizumab treatment between the first and second treated eyes in diabetic macular edema.

PURPOSE: To evaluate whether outcome of bevacizumab treatment in the first treated eye can guide the selection of compound for the second treated eye in patients with bilateral diabetic macular edema. METHODS: Demographic, clinical, and optical coherence tomography data were retrospectively collected from consecutive patients who underwent bevacizumab therapy for bilateral diabetic macular edema. Change in central subfield thickness and visual acuity were evaluated and compared between the first treated eye and second treated eye. RESULTS: A total of 66 eyes of 33 patients were included in the study. The mean ± SD follow-up time was 13 ± 5 months. The mean ± SD central subfield thickness at baseline was 464 ± 30 µm in the first treated eye and 461 ± 29 µm in the second treated eye (p = 0.91). Final central subfield thickness was reduced to 392 ± 27 µm in the first treated eye (p = 0.01 compared with baseline) and 416 ± 25 µm in the second treated eye (p = 0.03 compared with baseline). Using ≥5% or ≥10% reduction of central subfield thickness as diagnostic criteria to predict similar magnitude of thickness reduction in the first treated eye yielded a positive and negative predictive value ranging from 46% to 81%, and sensitivity and specificity ranging from 54% to 84%. Regression models did not show correlation between central subfield thickness reduction in first treated eye and the second treated eye at the end of follow-up. CONCLUSIONS: Bevacizumab therapy reduced macular thickness in both eyes in bilateral diabetic macular edema. Treatment outcome of the first treated eye could not predict the outcome of the second treated eye. Particularly, failure to reduce central subfield thickness in the first treated eye does not preclude a favorable response to bevacizumab therapy in the second eye.

Evidence-Based Medicine in Ophthalmic Journals During Covid-19 Pandemic.

BACKGROUND: COVID-19 has erupted into our lives and forced rapid changes in all fields of medicine, causing a rush for publications that inevitably caused a shift away from the paradigm of evidence-based medicine (EBM). The objective of the present report is to assess and quantify this process. METHODS: We compared the levels of EBM of the publications in the ophthalmic literature on COVID-19 at the beginning of the pandemic and compared it to those of articles published the prior year during April 2019 for the three highest ranking journals in the field of comprehensive ophthalmology. RESULTS: COVID-19 publications ranked significantly lower (p<0.001). Time between submission and acceptance was significantly shorter for the COVID-19 publications (p<0.001), and significantly more publications were accepted without revisions (P<0.001). CONCLUSION: Though a shift away from EBM may be unavoidable in the early stages of a pandemic, we suggest that for the benefit of reliable information and informed decision-making, it is time to go back to EBM.