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Purpose: This report describes a case of West African crystalline maculopathy. Methods: A case report is presented. Results: A 71-year-old Nigerian man was referred for evaluation of bilateral crystalline retinal deposits seen on routine examination. The patient had no acute visual symptoms and no significant ocular history except for cataract extraction and intraocular lens implantation in both eyes. Dilated fundocscopic examination was notable for bilateral greenish-yellow, foveocentric intraretinal crystalline deposits, which were visible on color fundus photography, multicolor confocal scanning laser ophthalmoscopy, and spectral-domain optical coherance tomography. The crystalline deposits were not associated with abnormal short-wavelength autofluorescence or fluorescein angiography findings. Conclusions: A diagnosis of West African crystalline maculopathy was made after other causes of crystalline maculopathy were excluded.
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Crystalline retinopathies may be associated with different etiologies including genetic, toxic, degenerative, idiopathic, and iatrogenic causes. We outline the various types of crystalline retinopathies and summarize their associated etiologies, pathogenesis, clinical presentations, multimodal imaging findings, and management strategies.
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Retina/patología , Enfermedades de la Retina/diagnóstico , Agudeza Visual , Cristalización , Angiografía con Fluoresceína , Fondo de Ojo , Humanos , Tomografía de Coherencia ÓpticaRESUMEN
PURPOSE: The purpose of this study is to report a case of ritonavir-related retinal toxicity followed over a year. Electrophysiological features and multimodal imaging, including adaptive optics, are provided and discussed. METHODS: Electrophysiological recordings and multimodal imaging were performed and repeated over 1 year. RESULTS: Fundus examination revealed crystalline maculopathy in conjunction with pigment disruption. Spectral domain optical coherence tomography displayed thinning of the macula without cysts. Autofluorescence imaging revealed a mixed pattern of complete loss of the autofluorescence in the area of retinal pigment deposit and an increased transmission of the autofluorescence in the area of retinal thinning. Fluorescein angiography ruled out parafoveal telangiectasia. Indocyanine green angiography was not contributive. Increased spacing of the macular cone mosaic, crystal deposits and pigment migrations were seen with adaptive optics. Full-field electroretinogram was slightly reduced for both eyes, especially in the light-adapted responses, and mfERG confirmed bilateral maculopathy. Functional and structural abnormalities did not change with follow-up besides constant pigmentary changes monitored with adaptive optics. CONCLUSION: Ritonavir-related retinal toxicity is a maculopathy with peculiar features including crystalline and pigment migration associated with central or temporofoveolar thinning and inconstant macular telangiectasia. Despite drug cessation, retinal remodelling continues to progress.
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Inhibidores de la Proteasa del VIH/efectos adversos , Enfermedades de la Retina/inducido químicamente , Ritonavir/efectos adversos , Electrorretinografía , Angiografía con Fluoresceína/métodos , Humanos , Masculino , Persona de Mediana Edad , Imagen Multimodal , Enfermedades de la Retina/diagnóstico , Pigmentos Retinianos/metabolismo , Tomografía de Coherencia Óptica/métodosRESUMEN
BACKGROUND: The purpose of this case report is to present a novel cause of crystalline maculopathy. FINDINGS: A 52-year-old Japanese female presented with a 4-month history of decreased vision in the left eye. Best corrected visual acuity in the left eye was 20/40. Dilated fundus examination of the right eye was unremarkable, but that of the left eye demonstrated foveal yellow-green intraretinal crystals and mild vitritis. Optical coherence tomography of the left eye revealed small intraretinal fluid cysts and intraretinal crystals. Ultra-widefield fluorescein angiography was normal in the right eye, but that of the left eye demonstrated features of intermediate uveitis. There was no history or findings to suggest any cause for the crystals other than the uveitis. CONCLUSIONS: We propose that this may represent a novel category of crystalline retinopathy, termed uveitic crystalline maculopathy. We hypothesize that breakdown of the blood-retinal barrier as seen in uveitis may contribute to the deposition of crystals in the macula, although the precise composition of the crystals is unknown.
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CASE REPORT: A case is presented of a thirty year-old male with ichthyosis, mental retardation, epilepsy and spasticity. Ocular examination showed a best-corrected visual acuity of 0.5 and bilateral crystalline maculopathy. Optical coherence tomography (OCT) revealed focal hyperreflective spots and intrafoveal microcystoid spaces. The diagnosis of Sjögren-Larsson syndrome (SLS) was made, and confirmed by genetic analysis. DISCUSSION: SLS is caused by mutations in the ALDH3A2 gene. A previously unreported novel mutation was identified, c.681-14T>G. Macular OCT makes it possible to find even funduscopy invisible changes. Its use is important because the OCT features of SLS are specific and, therefore, it can help to diagnose this rare systemic disease.