ABSTRACT
This case report describes the presence of bilateral macular atrophy in a patient with Alport syndrome and compares this finding with literature. At fundoscopy, there was a discrete circumscribed macular thinning showing intense retinal pigment epithelium color and the presence of whitish circular retinal lesions ("dots" and "flecks") at nasal mid periphery of both eyes. Optical coherence tomography showed bilateral partial atrophy of the neurosensory retina in the macula, with a greater extent in the temporal region. This case describes a rare ophthalmological finding in Alport syndrome and important to be recognized for a precise diagnosis as well as for determining visual prognosis.
Subject(s)
Macular Degeneration/genetics , Nephritis, Hereditary/complications , Retina/abnormalities , Female , Humans , Macular Degeneration/diagnosis , Middle Aged , Tomography, Optical Coherence , Visual AcuityABSTRACT
This case report describes the presence of bilateral macular atrophy in a patient with Alport syndrome and compares this finding with literature. At fundoscopy, there was a discrete circumscribed macular thinning showing intense retinal pigment epithelium color and the presence of whitish circular retinal lesions ("dots" and "flecks") at nasal mid periphery of both eyes. Optical coherence tomography showed bilateral partial atrophy of the neurosensory retina in the macula, with a greater extent in the temporal region. This case describes a rare ophthalmological finding in Alport syndrome and important to be recognized for a precise diagnosis as well as for determining visual prognosis.
Este relato de caso descreve a presença de atrofia macular bilateral em uma paciente com síndrome de Alport e compara este achado com a literatura. Ao exame fundoscópico, havia discreto afinamento macular circunscrito demonstrando a coloração intensa do epitélio pigmentado da retina e a presença de lesões retinianas circulares esbranquiçadas ("dots" e "flecks") na média periferia nasal em ambos os olhos. A tomografia de coerência óptica identificou atrofia parcial da retina neurossensorial bilateral na mácula, com maior extensão na área temporal. O caso descreve uma alteração oftalmológica rara da síndrome de Alport e de importante reconhecimento para precisar o diagnóstico e também para determinar o prognóstico visual.
Subject(s)
Female , Humans , Middle Aged , Macular Degeneration/genetics , Nephritis, Hereditary/complications , Retina/abnormalities , Macular Degeneration/diagnosis , Tomography, Optical Coherence , Visual AcuityABSTRACT
PURPOSE: to describe the clinicopathologic features and treatment of a rare case of systemic paracoccidioidomycosis with choroidal and retinal involvement. DESIGN: retrospective interventional case report. PARTICIPANT: A 36-year-old young man with visual impairment in left eye with anterior uveitis and presence of whitish perimacular choroidal nodule, multiple underlying whitish spots and mid-periphery exudative retinal detachment. A primary extensive work-up for systemic infectious, autoimmune, neoplasic or inflammatory conditions was performed and high-resolution computer tomography scan demonstrated asymmetric parietal thickening of the trachea and bilateral diffuse multiple lobular opacities. Pulmonary bronchoscopy/biopsy of larynx, trachea and bronchial tube were also performed. Histopathological evaluation showed characteristic of Paracoccidioidomycosis. INTERVENTION: Patient was treated with oral sulphadiazine (1.5 g/day). MAIN OUTCOME MEASURES: Anterior uveitis, retinal examination, histopathological evaluation and primary clinical outcome were observed during systemic treatment. RESULTS: After 3 months of irregular treatment, choroidal lesions decreased in size forming atrophic scars and fibrotic spots; however visual acuity did not show any improvement. CONCLUSION: We report a rare case of systemic paracoccidioidomycosis with choroidal and retinal involvement treated with oral sulphadiazine.