RESUMO
60-year-old woman referring visual disability. She presented bone spicule pigmentation and retinal atrophy in all peripheral retina, as well as macular retinal flecks. Multimodal imaging showed typical findings of both inherited retinal dystrophies (IRD). Electroretinogram confirmed rod dysfunction. Biallelic mutations were found in ABCA4 and CNGA1 genes. Although not common, different IRDs may be present in a same patient at the same time. This is the first reported case of the combination of RP with late-onset Stargardt's disease. We propose the name 'Stargardt's pigmentosa' for this novel clinical entity.
Assuntos
Degeneração Macular , Distrofias Retinianas , Feminino , Humanos , Degeneração Macular/diagnóstico por imagem , Degeneração Macular/genética , Retina , Distrofias Retinianas/diagnóstico por imagem , Distrofias Retinianas/genética , Eletrorretinografia , Transportadores de Cassetes de Ligação de ATP/genéticaRESUMO
CASE REPORT: This case report presents a 36 year-old male with a sudden loss of vision while taking part in an expedition in the Daulaghiri (8,167 metres high peak located in the Himalayan Mountain Range). DISCUSSION: High altitude retinal haemorrhage is a common condition in those mountaineers who reach altitudes over 5,500m. Depending on its location it may not present any symptoms and the condition improves with no further complications. However, in case of macular involvement the vision decreases dramatically and the consequences are uncertain.
Assuntos
Doença da Altitude/complicações , Montanhismo , Hemorragia Retiniana/etiologia , Doença Aguda , Adulto , Congelamento das Extremidades , Humanos , MasculinoRESUMO
Caso Clínico: Varón de 36 años que presenta pérdida súbita de visión central, durante una expedición al Daulaghiri (cordillera del Himalaya), de 8.167 m de altitud. Discusión: Las hemorragias retinianas de la altura son una manifestación frecuente en montañeros que superan los 5.500 m de altitud. Según su localización puede cursar deforma asintomática y suele evolucionar favorablemente. En caso de afectación macular, la visión disminuye de forma drástica y el pronóstico es incierto(AU)
Case report: This case report presents a 36 year-old male with a sudden loss of vision while taking part in an expedition in the Daulaghiri (8,167 metres high peak located in the Himalayan Mountain Range).Discussion: High altitude retinal haemorrhage is a common condition in those mountaineers who reach altitudes over 5,500 m. Depending on its location it may not present any symptoms and the condition improves with no further complications. However, in case of macular involvement the vision decreases dramatically and the consequences are uncertain(AU)
