ABSTRACT
Septo-optic dysplasia (SOD) is a rare congenital condition of unknown cause, with a characteristic triad that includes optic nerve hypoplasia, pituitary function abnormalities and midline brain defects, in addition to a broad spectrum of symptoms and associations. A total of five clinical cases are presented, four of which met the complete classic triad. All of them showed a wide variety of ophthalmological, endocrinological and neurological alterations. Within the ophthalmological spectrum of SOD, papillary hypoplasia and ocular motility alterations (nystagmus, strabismus) stand out. Other less frequent ones may also appear, such as pupillary alterations, microphthalmia and coloboma. Given the suspicion of SOD, brain MRI scan should be performed, as well as consultation with the paediatric department in order to complete the study and indicate, if necessary, systemic treatment.
Subject(s)
Eye Abnormalities , Septo-Optic Dysplasia , Brain , Child , Humans , Magnetic Resonance Imaging , Septo-Optic Dysplasia/diagnosisABSTRACT
La displasia septoóptica (DSO) es una entidad congénita, rara, de causa desconocida, con una tríada característica que incluye hipoplasia de nervio óptico, anomalías en la función hipofisaria y defectos en la línea media cerebral, además de un amplio espectro de manifestaciones y asociaciones.Se presenta una serie de cinco casos clínicos, de los cuales cuatro presentaron la tríada clásica completa. Todos mostraron gran variedad de alteraciones oftalmológicas, endocrinológicas y neurológicas.Dentro del espectro oftalmológico de la DSO, destacan la hipoplasia papilar y las alteraciones de la motilidad ocular (nistagmos estrabismo). También pueden aparecer otras menos frecuentes, como son alteraciones pupilares, microftalmia y coloboma.Ante la sospecha de DSO, conviene realizar una resonancia magnética cerebral y una interconsulta con el servicio de pediatría para completar el estudio e indicar, si fuera preciso, tratamiento sistémico.
Septo-optic dysplasia (SOD) is a rare congenital condition of unknown cause, with a characteristic triad that includes optic nerve hypoplasia, pituitary function abnormalities and midline brain defects, in addition to a broad spectrum of symptoms and associations.A total of five clinical cases are presented, four of which met the complete classic triad. All of them showed a wide variety of ophthalmological, endocrinological and neurological alterations.Within the ophthalmological spectrum of SOD, papillary hypoplasia and ocular motility alterations (nystagmus, strabismus) stand out. Other less frequent ones may also appear, such as pupillary alterations, microphthalmia and coloboma.Given the suspicion of SOD, brain MRI scan should be performed, as well as consultation with the paediatric department in order to complete the study and indicate, if necessary, systemic treatment.
Subject(s)
Humans , Health Sciences , Ophthalmology , Septo-Optic Dysplasia , Vision, Low/congenitalABSTRACT
Purtscher retinopathy is an occlusive microangiopathy associated with traumatic causes and usually causes visual impairment. For non-traumatic origins, it is called Purtscher-like retinopathy (PLR). A 26-year-old man reported loss of vision in his left eye after the implantation of a telescoping stent for the treatment of an intracranial carotid aneurysm. The fundus of the eye showed numerous cotton-wool spots and superficial haemorrhages. The spontaneous evolution was favourable, with almost complete resolution, except for an inferior residual scotoma. The appearance of PLR may be associated with the implantation of an endovascular stent for the treatment of intracranial aneurysms.
Subject(s)
Intracranial Aneurysm , Papilledema , Retinal Diseases , Adult , Fundus Oculi , Humans , Intracranial Aneurysm/surgery , Male , StentsABSTRACT
La retinopatía de Purtscher es una microangiopatía oclusiva asociada a causas traumáticas que suele cursar con disminución visual. Cuando la etiología no es traumática se denomina retinopatía Purtscher-like (RPL). Un varón de 26años refirió pérdida de visión en el ojo izquierdo tras el implante de un stent telescopado para el tratamiento de un aneurisma carotídeo intracraneal. El fondo de ojo mostró numerosos exudados algodonosos y hemorragias superficiales. La evolución espontánea fue favorable, con una resolución casi completa salvo por un escotoma residual inferior. La aparición de RPL se puede asociar al implante de un stent endovascular para el tratamiento de aneurismas intracraneales (Au)
Purtscher retinopathy is an occlusive microangiopathy associated with traumatic causes and usually causes visual impairment. For non-traumatic origins, it is called Purtscher-like retinopathy (PLR). A 26-year-old man reported loss of vision in his left eye after the implantation of a telescoping stent for the treatment of an intracranial carotid aneurysm. The fundus of the eye showed numerous cotton-wool spots and superficial haemorrhages. The spontaneous evolution was favourable, with almost complete resolution, except for an inferior residual scotoma. The appearance of PLR may be associated with the implantation of an endovascular stent for the treatment of intracranial aneurysms (AU)
