No abstract

PurposeVisual photosensitivity is a common symptom difficult to measure and diagnose, and is found in many ocular and neurological disorders. We developed two novel reproducible quantitative assessments of visual photosensitivity.MethodsWe designed and built the ocular photosensitivity analyzer (OPA), an automated instrument to determine light intensity visual photosensitivity threshold (VPT), and developed the Visual Light Sensitivity Questionnaire-8 (VLSQ-8), an eight-question survey to assess the presence and severity of photosensitivity symptoms. We evaluated the test–retest variability and obtained normative values of these two approaches in 35 healthy normal subjects, distributed evenly over five age groups from eight to 60 years. Each subject underwent two test sessions, each with VLSQ-8, eye examination, and OPA, four weeks apart, between April 2015 and June 2016.ResultsLog-transformed VPTs (log10lux) and VLSQ-8 results were highly reproducible between the two sessions (VPT intraclass correlation coefficient [ICC] = 0.86; 95% confidence interval [CI] = 0.71–0.93; binocular testing, VLSQ-items ICC range = 0.53–0.87). No consistent significant differences in VPTs were found with monocular (P = 0.053, session 1) or binocular (P = 0.26) testing. Subjects in age group >30 to 40 years had significantly higher VPTs than those in other age groups (P ≤ 0.011) except the >40 to 50 years age group (P = 0.11). Photosensitivity symptoms assessed by the VLSQ-8 generally were low and highly reproducible with ≥88% of responses between the 2 sessions being within one category of each other.ConclusionsOur results provide reliability data and normative results toward validation of two novel approaches to quantify visual photosensitivity and provide support for their potential use in ocular and neurologic conditions as well as in clinical trials.Translational RelevanceThe new quantitative photosensitivity approaches are potential measures to characterize disease severity, monitor disease progression, and evaluate treatment efficacy.

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal diseases. The prevalence of RP and the mutation spectrum vary across populations. Hispanic people account for approximately 17% of the United States population, and the genetic etiologies of RP of this ethnic group still remain not well defined. Utilizing next-generation sequencing (NGS), we screened mutations in known retinal diseasecausing genes in an RP cohort of 35 unrelated Hispanic probands from the Miami area. We achieved a solving rate of 66% and identified 15 novel putative pathogenic mutations, including a frequent founder mutation disrupting PRPF31 splicing. Our data show that the mutation spectrum of Hispanic RP receives a significant impact from disease-causing alleles of Spanish origin and may also contain population-specific alleles.

NCT01003639, Post-results.

Purpose To determine what socioeconomic factors affect follow-up in a glaucoma screening program. Patients and Methods This was a retrospective cohort study of six health fairs in South Florida from October 2012 to March 2013 among socially and economically disadvantaged populations. Visual acuity (VA), intraocular pressure (IOP), cup-to-disc ratio (CDR), and visual field testing were obtained to identify glaucoma suspects. Glaucoma suspects were defined as having intraocular pressure ≥24 mm Hg, cup-to-disc ratio of ≥0.6 in either eye, or glaucomatous defects on visual field testing. In July 2015, telephone surveys were administered to assess follow up and socioeconomic factors. Results Seventy-two out of 144 (50%) glaucoma suspects responded to the survey and were included in the analysis. Of the 72 respondents, average age was 52.8 years old and 65% were female. The most common race was African American (69%) and ethnicity was Haitian (51%). Glaucoma suspects who followed up were significantly more likely to have health insurance compared to those who did not follow up (74% vs 43%, p = 0.014). No significant difference in follow-up based on age (p = 0.125), education (p = 0.151), gender (p = 0.48), or ethnicity (p = 0.707) was identified. Of the 30 respondents, who did not follow up, the most common reasons were “no insurance” (57%, 17/30) and “not worried” (33%, 10/30). Conclusion Insurance was the main socioeconomic factor in determining whether glaucoma suspects followed up after community health screenings. Streamlining social services could increase clinical access of glaucoma suspects.