Background Nanophthalmos has a significant genetic background and disease-causing mutations have been recently been reported in the myelin regulatory factor (MYRF) gene. We report clinical features in a patient with nanophthalmos and a Thr518Met MYRF mutation. Case presentation A three-year-old male was discovered to have nanophthalmos after first presenting to the emergency department for a frontal headache, eye pain, emesis, and lethargy. Imaging studies (CT and MRI) were negative except for increased posterior fossa cerebrospinal fluid. Subsequent examinations revealed nanophthalmos (short axial eye lengths 18.1 mm OD and 18.3 mm OS), microcornea, and a large crystalline lens. Peripheral chorioretinal pigment abnormalities were also observed. He experienced episodes of marked ocular hypertension (53 mmHg OD and 60 mmHg) likely due to intermittent angle closure precipitated by nanophthalmos. The ocular hypertension was responsive to topical medicines. Genetic analysis of known nanophthalmos genes MFRP and TMEM98 were negative, while a novel mutation, Thr518Met was detected in MYRF. The Thr518Met mutation was absent from 362 matched normal controls and was extremely rare in a large population database, allele frequency of 0.000024. The Thr518Met mutation altered a highly conserved amino acid in the MYRF protein and three of four algorithms suggested that this mutation is likely pathogenic. Finally, molecular modeling showed that the Thr518Met mutation is damaging to MYRF structure. Together these data suggest that the Thr518Met mutation causes nanophthalmos. Conclusions Nanophthalmos may present at an early age with features of angle closure glaucoma and a Thr518Met mutation in MYRF was detected in a patient with nanophthalmos. Prevalence data, homology data, mutation analysis data, and protein modeling data suggest that this variant is pathogenic and may expand the phenotypic range of syndromic nanophthalmos caused by MYRF mutations to include central nervous system abnormalities (increased posterior fossa cerebrospinal fluid).
Objective While medical education has generally progressed, advancements in ophthalmic education have been minimal. The flipped classroom technique is a research-supported approach to adult learning that encourages active participation. The effectiveness of widely implementing the flipped classroom modality in ophthalmology had not been studied. The purpose of this study was to evaluate a flipped classroom, primary care-focused curriculum for medical students in their ophthalmology clerkship. Methods The ophthalmology clerkship curriculum was changed from a traditional, diagnosis-focused, lecture-based system to a chief complaint-based, flipped classroom structure. The study was performed over a 3-year period from 2016 (full traditional lecture-based system) to 2018 (full flipped classroom structure). Medical students' evaluations of the clerkship, recorded lecture viewership, and exam scores were retrospectively reviewed. Cohorts from study years 2016 and 2018 were used to assess knowledge acquisition and the attitudes of learners after implementing a flipped classroom structure. Results The primary care-focused, flipped classroom received a higher clerkship rating than the diagnosis-based traditional classroom (mean 4.18 vs. 3.82, respectively, p = 0.008). Students of the flipped classroom modality found the teaching sessions more valuable, experienced more direct interaction with faculty and residents, regarded the faculty and residents as excellent teachers, and received feedback that helped them assess their individual skills and progress. These improvements were made without changing test performance while only modestly increasing hours spent studying. Conclusion A chief complaint-based, flipped classroom approach to the basic ophthalmology clerkship increased student satisfaction, without changing the amount of knowledge gained. This resulted in more valuable and effective learning experiences for medical students.
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