ABSTRACT
Resumen La coroideremia es una enfermedad retiniana hereditaria que se caracteriza por la degeneración progresiva coriocapilar de coroides y retina; esta tiene la capacidad de limitar el funcionamiento y generar discapacidad, afectando el desempeño de la persona en el ámbito familiar, social y profesional, al producir dificultades en la comunicación, la movilidad, el desplazamiento y la gestión de su diario vivir. Esta condición de salud ocular se origina por una mutación del gen que codifica la proteína RabEscort-1, ubicada en el cromosoma Xq21. Su fisiopatología no es clara, y los reportes de caso de coroideremia familiar son escasos en Latinoamérica. Se reporta el caso de un hombre de 54 años con nictalopía y pérdida progresiva de agudeza visual, con un hermano menor con coroideremia y primo materno con sospecha de dicha enfermedad, con énfasis en evolución clínica, hallazgos al fondo de ojo y progresión a discapacidad categoría visual, tipo baja visión. MÉD.UIS. 2020;33(2):109-115.
Abstract Choroideremia is a hereditary retinal disease characterized by progressive choroidal and retinal choriocapillary degeneration, it has the ability to limit functioning and generate disability, affecting the persons performance in the family, social and professional environment, by causing difficulties in communication, mobility, displacement and management of your daily life. This eye health condition is caused by a mutation of the gene that encodes the RabEscort-1 protein, located on the Xq21 chromosome. His pathophysiology is not clear, and case reports of familial choroideremia are sparse in Latin America. The case of a 54-year-old man with night blindness and progressive loss of visual acuity is reported, with a younger brother with choroideremia and maternal cousin with suspected disease, with emphasis on clinical evolution, fundus findings and progression to disability category visual, low vision type. MÉD.UIS. 2020;33(2):109-115.
Subject(s)
Humans , Male , Middle Aged , Choroideremia , Retinal Diseases , Blindness , Night Blindness , Vision, LowABSTRACT
To report retinal image of in a 6-year-old male castrated poodle dog with a 2-month history of nyctalopia using optical coherence tomography (OCT). Ocular reflexes were present in both eyes and slit lamp examination showed anterior subscapular cataract in the right eye. There were fundus abnormalities in both eyes similar to retinal degeneration. Scotopic electroretinograms (ERGs) revealed significantly subabnormal amplitudes and prolonged implicit time, whereas photopic ERGs were better maintained, although far from normal. OCT of affected dogs revealed generalized retinal thinning much more than a normal age-matched dog. Therefore, OCT scanning is considered to be a useful method for retinal evaluation in dogs with retinal degeneration.