Mutations in the inosine monophosphate dehydrogenase 1 (IMPDH1) gene are a common cause of inherited retinal degeneration (IRD). Due to species-and tissuedependent expression of IMPDH1, there are no appropriate models of human IMPDH1 disease. Therefore, a limited understanding remains of disease expression and rates of progression for IMPDH1-related IRD. Methods: We evaluated semiautomated kinetic and chromatic static perimetry, spectral-domain optical coherence tomography (SD-OCT), and ultra-wide field fundus images with autofluorescence in a cohort of 12 patients (ages 11-58 at first visit). Ten patients had longitudinal data for which rates of progression were estimated. Results: Visual acuities were relatively stable over time and the photoreceptors within the central retina remained intact. Perifoveal photoreceptor loss measured over a period of years coincided with visual fields, which were constricted and progressed over time in all patients. Rod sensitivity showed a similar pattern of defect to that of the kinetic perimetry and the autofluorescence ultra-wide field imaging. Full-field electroretinograms were severely reduced and the dark-adapted rod and mixed responses were extinguished at earlier visits than the light-adapted cone responses. Conclusions: There was variability in disease severity at the first visit, but results show that the peripheral retina is more susceptible to the deleterious consequences of an IMPDH1 mutation. Given the pattern of degeneration and the alternatively spliced isoforms of IMPDH1, potential interventions may consider targeting the periphery early in disease, modulating transcript expression, and/or preserving central vision at late stages of the disease. Translational Relevance: These results inform clinical prognosis and offer evidence strategies toward therapeutic intervention.
Introduction: This case study described refractive changes that can occur in the setting of Epstein-Barr virus (EBV)-associated nummular keratitis (NK) and highlighted the role that anterior segment optical coherence tomography can serve in diagnosis and management of this disease.
Patient and Clinical Findings:A 15-year-old girl developed subepithelial and anterior stromal corneal lesions and experienced progressive decline in the corrected distance visual acuity. She also developed a significant myopic shift with increased keratometric and refractive astigmatism.Diagnosis, Intervention, and Outcomes Targeted laboratory testing was performed. A diagnosis of chronic EBV-associated NK was made, and the patient was treated with systemic valacyclovir and topical steroids. Clinical appearance of lesions and corrected distance visual acuity improved, although refractive and keratometric changes persisted.Conclusions: Significant and persistent refractive changes can occur in the setting of EBV-associated NK, similar to those seen after conductive keratoplasty. Anterior segment optical coherence tomography can be a potentially helpful supplementary diagnostic imaging modality to avoid invasive testing in such cases.
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