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).

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Sustaining a burn injury often results in a life-long recovery process. Survivors are impacted by changes in their mobility, appearance, and ability to carry out activities of daily living. In this study, we examined survivors’ accounts of their treatment and recovery in order to identify specific factors that have had significant impacts on their well-being. With this knowledge, we may be better equipped to optimize the care of burn patients. We conducted inductive, thematic analysis on transcripts of in-depth, semistructured interviews with 11 burn survivors. Participants were purposefully selected for variability in age, gender, injury size and mechanism, participation in peer support, and rurality. Survivors reported varied perceptions of care quality and provider relationships. Ongoing issues with skin and mobility continued to impact their activities of daily living. Many survivors reported that they did not have a clear understanding or realistic expectations of the recovery process. Wound care was often described as overwhelming and provoked fear for many. Even years later, trauma from burn injury can continue to evolve, creating fears and impediments to daily living for survivors. To help patients understand the realistic course of recovery, providers should focus on communicating the nature of injury and anticipated recovery, developing protocols to better identify survivors facing barriers to care, and referring survivors for further support.

Introduction The treatment and recovery from a burn injury is a long process that can affect a survivor’s appearance, mobility, daily function, and emotional wellbeing. In this study, we sought to identify various factors in survivors’ treatment and recovery process. Methods We conducted thematic analysis on transcripts of in-depth, semi-structured interviews with 11 burn survivors who had been treated at a Midwest tertiary facility. Survivors were purposefully selected for variability in age, gender, injury size, injury mechanism and quality of life responses. All transcripts were coded by at least two authors. We managed coded results in MAXQda, a qualitative data management software program. Results The mean age of interviewees was 51 years (35–63 years) and time from the injury was 5.4 years (2 months to 26 years). Their burn sizes ranged from < 10% in 4 people to 70–79% in one. Participants reported varied perceptions of care quality and provider relationships from the initial hospital stay. Some recalled communication issues from the hospital throughout the long recovery process. Many used graphic terms for the unfamiliar treatment methods. Survivors reported ongoing issues with their skin and mobility that continued to impact activities of daily living even years later. Many did not have clear or realistic expectations or understanding of the recovery process. Wound care was overwhelming and provoked fear for many survivors even with formal instruction. Most participants developed different ways to treat their injuries at home. Barriers to recovery included finances, comorbidities, and environmental characteristics, including rurality. Conclusions Even years later, the burn injury can continue to evolve, create fears, and affect daily living for survivors. To help patients understand the realistic course of recovery, providers could focus on clear communication about the injury and recovery. Providers should recognize survivors with barriers who may need referrals for further support. Applicability of Research to Practice Reflecting on the subjective accounts of survivors will help identify opportunities to improve patient experiences during treatment and throughout the recovery process.