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Purpose: To report a novel case of Urrets-Zavalia syndrome (UZS). Observation: A 59-year-old man underwent removal of a dislocated intraocular lens and placement of a scleral-sutured intraocular lens. After surgery, the pupil in the operative eye was dilated, fixed, and unresponsive to constricting drops. Conclusion: This case expands the known etiology of UZS. Possible preventative measures may include pre-operative screening for plateau iris and intra-operative use of iris hooks instead of pharmacological dilation.
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INTRODUCTION: Leber Congenital Amaurosis (LCA) is an inherited retinal disease that presents in infancy with severely decreased vision, nystagmus, and extinguished electroretinography findings. LCA8 is linked to variants in the Crumbs homolog 1 (CRB1) gene. CASE DESCRIPTION: We report a novel CRB1 variant in a 14-year-old male presenting with nystagmus, worsening vision, and inability to fixate on toys in his infancy. Color fundus photography revealed nummular pigments in the macula and periphery. Imaging studies revealed thickened retina on standard domain optical coherence tomography and widespread atrophy of the retinal pigment epithelium on autofluorescence. Full-field electroretinography revealed extinguished scotopic and significantly reduced photopic responses. Genetic testing demonstrated a novel homozygous variant, c.3057 T > A; p.(Tyr1019Ter), in the CRB1 gene. This variant is not currently amenable to base editing, however, in silico analysis revealed several potential prime editing strategies for correction. CONCLUSION: This case presentation is consistent with LCA8, suggesting pathogenicity of this novel variant and expanding our knowledge of disease-causing CRB1 variants.
Assuntos
Amaurose Congênita de Leber , Masculino , Humanos , Adolescente , Amaurose Congênita de Leber/diagnóstico , Amaurose Congênita de Leber/genética , Eletrorretinografia , Edição de Genes , Estudos de Viabilidade , Mutação , Proteínas do Tecido Nervoso/genética , Proteínas do Olho/genética , Fenótipo , Análise Mutacional de DNA , Proteínas de Membrana/genéticaRESUMO
PURPOSE: Studies have shown the prevalence of iron deficiency anemia (IDA) increasing worldwide, and currently the literature is limited on the impact of IDA on outcomes following revision total hip arthroplasty (RTHA). Therefore, the purpose of this study was to determine whether IDA patients undergoing RTHA have longer: 1) in-hospital lengths of stay (LOS); 2) medical complications; and 3) costs of care. MATERIALS AND METHODS: A retrospective query of a nationwide administrative claims database was performed. Using Boolean command operations, the study group consisted of all patients in the database undergoing RTHA with IDA; whereas, patients without IDA served as controls. To reduce the effects of confounding, study group patients were matched to controls in a 1:5 ratio by age, sex, and medical comorbidities yielding 92,948 patients with (n=15,508) and without (n=77,440) IDA undergoing revision THA. A P-value less than 0.001 was considered statistically significant. RESULTS: IDA patients were found to have significantly longer in-hospital LOS (5 days vs. 4 days, P<0.0001). Additionally, the study showed IDA patients were found to higher incidence and odds of (73.84% vs. 11.77%, OR 5.04, P<0.0001) 90-day medical complications. IDA patients also incurred high 90-day episode of care costs ($25,597.51 vs. $20,085.70, P<0.0001). CONCLUSION: After adjusting for age, sex, and medical comorbidities this study of over 92,000 patients demonstrated IDA is associated with longer in-hospital LOS, complications, and costs of care. Future studies should compare the duration and severity of IDA on outcomes.