Macular dystrophy associated with Kjellin’s syndrome: a case report
| Autor: | Andre Messias, Katharina Messias, Rafael S. Arcieri, André Meirelles, Vinicius Monteiro de Castro |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Adult
Male Retinal degeneration medicine.medical_specialty Visual acuity genetic structures Hereditary spastic paraplegia Visual Acuity Paraplegia espástica hereditária/diagnóstico Fundus (eye) Macular Degeneration chemistry.chemical_compound lcsh:Ophthalmology Ophthalmology Degeneração macular Electroretinography medicine Humans Fluorescein Angiography Relatos de casos Spectroscopy Near-Infrared Spastic Paraplegia Hereditary business.industry Retinal Degeneration Retinal General Medicine Técnicas de diagnóstico oftalmológico Macular dystrophy Macular degeneration medicine.disease eye diseases Stargardt disease chemistry lcsh:RE1-994 sense organs medicine.symptom business Tomography Optical Coherence |
| Zdroj: | Arquivos Brasileiros de Oftalmologia, Vol 78, Iss 2, Pp 120-122 (2015) |
| ISSN: | 0004-2749 |
| DOI: | 10.5935/0004-2749.20150031 |
| Popis: | Hereditary spastic paraplegia (HSP) is characterized by weakness and spasticity of the lower extremities. Kjellin’s syndrome is a rare syndrome associated with HSP. The syndrome is characterized by the presence of bilateral retinal flecks, similar to the findings in Stargardt disease and fundus flavimaculatus. We report the case of a 34-year-old male who presented with complete features of Kjellin’s syndrome, with typical retinal findings observed on multimodal imaging (spectral domain optical coherence tomography [SD-OCT], near-infrared reflectance and autofluorescence imaging). The ophthalmological changes at early stages of the disease may not impair visual acuity. Therefore, the detection of central retinal degeneration requires thorough fundus examination. |
| Databáze: | OpenAIRE |
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