Detailed Phenotype Supports Pathogenicity of Hypomorphic Variant in ABCC6-Associated Pattern Dystrophy.

Introduction: We report a case of pseudoxanthoma elasticum (PXE) with an atypical phenotype likely related to a hypomorphic variant in ABCC6. Case Presentation: A 66-year-old Caucasian female with a history of a maculopathy interpreted as either age-related macular degeneration or a pattern dystrophy underwent a detailed ophthalmic evaluation. Visual acuities were 20/25, OD, and 20/20, OS. Spectral domain optical coherence and fluorescein angiography demonstrated outer retinal disruptions and breaks in retinal pigment epithelium (RPE)/Bruch's membrane bilaterally, consistent with angioid streaks. A large area of hypo- and hyperautofluorescence extending from the central retina into the peripapillary retina was documented with short-wavelength excitation autofluorescence. The area of hypoautofluorescence, which was much larger on near-infrared excitation, spared the temporal retina. Two-color dark-adapted perimetries documented severe rod sensitivity losses and less severe cone sensitivity abnormalities co-localizing with the RPE abnormalities. No obvious skin findings were observed, and initial dermatologic biopsy was negative. Gene screening identified a pathogenic ABCC6 gene variant c.1552C>T and a previously reported variant of uncertain significance c.1171A>G. A second dermatologic biopsy demonstrated positive findings consistent with PXE. Conclusion: Although this patient had minimal skin findings, this patient had characteristic structural and functional abnormalities of a pattern dystrophy with angioid streaks and histologic evidence of PXE, suggesting compound heterozygous variants involving the hypomorphic ABCC6 c.1171A>G variant. These findings support the pathogenic role of both variants.

Assessing the efficacy of 3D-printed ear protectors on mask adherence at an academic ophthalmology center.

PURPOSE: In the ophthalmology setting, given the close proximity required for the clinical exam, appropriate mask usage and fit is essential. This study aims to assess how a simple, cost-effective 3D-printed face mask ear protectors (EP) attachment may decrease discomfort, increase compliance, and improve fit in an academic institution's Ophthalmology department. METHODS: Face mask EPs were distributed to patients and providers in the Ophthalmology department. A validated questionnaire was administered before and 2 weeks after EP usage. The survey included questions on demographics and frequency of mask usage during a spectrum of activities. Descriptive statistics were performed with Fischer's t test. RESULTS: Post-EP responses demonstrated an increased likelihood of mask usage across all activities, although not statistically significant. The greatest change was during outdoor activities, with a 14.3% increase in highest utilization. Post-EP, all subjects were very likely to wear masks while shopping and 91.7% while in the workplace. EP usage decreased the number of noncompliant individuals while spending time with friends and family by 93.3%. Almost no subjects reported mask removal of >15 times per hour post-EP. The increase in mask compliance was greatest for low mask utilizers. 91.9% reported improved comfort, 91.9% reported improved fit, and 81.6% reported increased mask usage. CONCLUSION: Our results suggest that simple cost-effective 3D-printed ear protectors may improve fit, comfort, and overall mask compliance. The results of this study should drive broader public health efforts to further investigate whether mask attachments can improve overall mask compliance through better comfort and fit.

Risk Factors Associated with Progression to Blindness from Primary Open-Angle Glaucoma in an African-American Population.

PURPOSE: To determine the risk factors associated with progression to blindness from primary open-angle glaucoma (POAG) in an African-American population. METHODS: This study examined 2119 patients enrolled in the Primary Open-Angle African-American Glaucoma Genetics (POAAGG) study. A total of 59 eyes were identified as legally blind as a result of POAG (cases) and were age-and sex-matched to 59 non-blind eyes with glaucoma (controls). Chart reviews were performed to record known and suspected risk factors. RESULTS: Cases were diagnosed with POAG at an earlier age than controls (p = 0.005). Of the 59 eyes of cases, 16 eyes (27.1%) presented with blindness at diagnosis. Cases had worse visual acuity (VA) at diagnosis (p < 0.0001), with VA worse than 20/40 conferring a 27 times higher risk of progression to blindness (p = 0.0005). Blind eyes also demonstrated more visual field defects (p = 0.01), higher pre-treatment intraocular pressure (IOP; p < 0.0001), and higher cup-to-disc ratio (p = 0.006) at diagnosis. IOP was less controlled in cases, and those with IOP ≥21 mmHg at more than 20% of follow-up visits were 73 times more likely to become blind (p < 0.0001). Cases missed a greater number of appointments per year (p = 0.003) and had non-adherence issues noted in their charts more often than controls (p = 0.03). However, other compliance data did not significantly differ between groups. CONCLUSION: Access to care, initial VA worse than 20/40, and poor control of IOP were the major risk factors associated with blindness from POAG. Future studies should examine earlier, more effective approaches to glaucoma screening as well as the role of genetics in these significantly younger patients who progress to blindness.

Confidence of ophthalmology residents in obtaining informed consent.

UNLABELLED: Ophthalmology residents often obtain informed consent for common procedures. In this study, we set out to determine the confidence levels among ophthalmology residents who obtain informed consent. An anonymous online survey was distributed to United States ophthalmology residents across the country. Ninety-five residents participated, evenly distributed geographically and by postgraduate year (PGY). Residents were frequently obtaining consent for procedures despite not being comfortable doing so. Only 18% of residents reported that they always felt comfortable with the informed consent process. Comfort level increased significantly with PGY (P < .001) and prior training in informed consent (P = .032). Of the residents surveyed, 76% indicated a desire for more formal training in the consent process. Most residents would welcome an informed-consent formal training curriculum, which would address 5 of the 6 Accreditation Council for Graduate Medical Education core competencies and meet resident milestones in the Next Accreditation System. FINANCIAL DISCLOSURE: No author has a financial or proprietary interest in any material or method mentioned.

Ophthalmology resident selection: current trends in selection criteria and improving the process.

OBJECTIVE: To document and assess current ophthalmology resident selection practices as well as to initiate discussion on how best to improve the process. DESIGN: Online survey comprising 56 questions. PARTICIPANTS: Program directors, chairpersons, or members of the resident selection committee representing 65 United States ophthalmology residency programs accredited by the Accreditation Council on Graduate Medical Education. METHODS: Study participants completed an online, anonymous survey consisting primarily of multiple choice questions, with single or multiple answers. MAIN OUTCOME MEASURES: Ophthalmology resident selection practices were evaluated and included: screening of applications, interview processes, selection factors, and formation of rank lists; recommendations given to applicants; and respondent satisfaction with the current selection process. RESULTS: As a group, survey respondents deemed the following factors most important in resident selection: interview performance (95.4%), clinical course grades (93.9%), letters of recommendation (83.1%), and board scores (80%). Statistical analyses deemed that the best predictors of resident performance are interviews, clinical course grades, recommendation letters, and ophthalmology rotation performance. CONCLUSIONS: Ophthalmology resident selection is a relatively subjective process, continuing to rely heavily on cognitive factors. Because these factors are not always indicative of ultimate resident quality, it would be helpful if ophthalmology training programs improved selection practices to discern who most likely will become a successful resident and future ophthalmologist. Long-term studies correlating applicant attributes with residency and postresidency success are needed to recommend guidelines for a more standardized selection process.

Development and face and content validity of an eye surgical skills assessment test for ophthalmology residents.

PURPOSE: The Accreditation Council for Graduate Medical Education has called for the development of new tools for teaching and assessment in core residency competencies. Aims of this study were to respond to this mandate by developing an objective method of evaluating the surgical skills of ophthalmology residents in a microsurgery laboratory environment that could become a part of the ophthalmic surgical curriculum and competency determination, and to evaluate the face and content validity of this assessment by surveying experts in the field. DESIGN: Survey. PARTICIPANTS: Twenty-two content experts (residency program directors and faculty members involved with resident surgical training). METHODS: We have developed a 3-station (skin suturing, muscle recession, phacoemulsification/wound construction and suturing technique) wet laboratory surgical skills obstacle course for ophthalmology residents. Each station includes instructions to the resident for completing the task as well as assessment forms, a station-specific checklist, and a global rating scale of performance, for expert surgeons to complete while reviewing the resident's videotaped performance. To establish face and content validity, content experts were sent a detailed explanation of the assessment along with a survey to facilitate constructive feedback. MAIN OUTCOME MEASURES: Survey responses. RESULTS: Experts felt that the Eye Surgical Skills Assessment Test (ESSAT) is a useful and representative tool for assessing surgical skills of residents. Suggestions were incorporated, thus establishing the face and content validity. CONCLUSIONS: The ESSAT has face and content validity. This tool will be useful for assessing residents' surgical skills in a laboratory environment and the impact of various teaching methods on performance. Further studies to establish the interrater reliability and construct validity of the ESSAT are underway.