title: Macular dystrophy associated with Kjellin's syndrome: a case report.
abstract: 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.
authors.affiliation: Department of Ophthalmology, Otorhinolaryngology and Head & Neck Surgery, Medical School of Ribeirão Preto, Federal University of São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: Vinícius Monteiro de
authors.initials: VM
authors.lastname: Castro
authors.affiliation: Department of Ophthalmology, Otorhinolaryngology and Head & Neck Surgery, Medical School of Ribeirão Preto, Federal University of São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: André
authors.initials: A
authors.lastname: Meirelles
authors.affiliation: Department of Ophthalmology, Otorhinolaryngology and Head & Neck Surgery, Medical School of Ribeirão Preto, Federal University of São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: Rafael Saran
authors.initials: RS
authors.lastname: Arcieri
authors.affiliation: Department of Ophthalmology, Otorhinolaryngology and Head & Neck Surgery, Medical School of Ribeirão Preto, Federal University of São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: Katharina
authors.initials: K
authors.lastname: Messias
authors.affiliation: Department of Ophthalmology, Otorhinolaryngology and Head & Neck Surgery, Medical School of Ribeirão Preto, Federal University of São Paulo, Ribeirão Preto, SP, Brazil.
authors.forename: André
authors.initials: A
authors.lastname: Messias
mesh_terms: D000328:Adult; D004596:Electroretinography / Q000379:methods; D005451:Fluorescein Angiography / Q000379:methods; D006801:Humans; D008268:Macular Degeneration / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D008297:Male; D012162:Retinal Degeneration / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D015419:Spastic Paraplegia, Hereditary / Q000150:complications* / Q000175:diagnosis / Q000503:physiopathology; D019265:Spectroscopy, Near-Infrared / Q000379:methods; D041623:Tomography, Optical Coherence / Q000379:methods; D014792:Visual Acuity