ABSTRACT
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Subject(s)
Humans , Male , Aged , Orthostatic Intolerance/complications , Orthostatic Intolerance , Dizziness/complications , Leukoaraiosis/complications , Leukoaraiosis , Aspirin/therapeutic use , Lorazepam/therapeutic use , Magnetic Resonance Imaging/methods , Magnetic Resonance Spectroscopy/methods , Primary Health Care/methods , Dizziness/etiology , Neurophysiology/methodsABSTRACT
UNLABELLED: We report a familial case of fundus albipunctatus associated with cone dystrophy. CASE REPORT: Thirty-eight year-old male diagnosed with retinitis pigmentosa in another center. The main complain is a worsening of his night and color vision. Clinical and electrophysiological studies confirm the association of fundus albipuncatus with cone dystrophy. The family study found another cone dystrophy-associated case in his thirty-three year-old affected brother. DISCUSSION: Though it is considerated a stationary disease, we report the association of fundus albipunctatus with symptoms and signs related to cone dysfunction. We review the possible nature of this association.
Subject(s)
Macular Degeneration/complications , Night Blindness/etiology , Retinal Cone Photoreceptor Cells/pathology , Adult , Electroretinography , Fundus Oculi , Humans , Macular Degeneration/pathology , Macular Degeneration/physiopathology , Male , Night Blindness/pathology , Night Blindness/physiopathology , Retina/pathology , Visual Acuity , Visual Field TestsABSTRACT
Se presenta un caso familiar de fundus albipunctatus asociado a distrofia de conos. Caso clinico: Varón de 38 años diagnosticado en otro centro de retinitis pigmentosa que se revisa por empeoramiento de la visión nocturna y mala percepción de los colores. El estudio clínico y electrofisiológico demuestra la existencia simultánea de una distrofia de conos y de un fundus albipunctatus. El estudio de su hermano revela igualmente el inicio de una distrofia de conos en un paciente con fundus albipunctatus. Discusión: Considerada en general como una enfermedad de carácter estacionario, se presenta la asociación de un fundus albipunctatus con síntomas relacionados con una disfunción generalizada de conos en dos pacientes adultos. Se revisa la posible naturaleza de esta asociación (AU)
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