Septo-optic dysplasia: Ophthalmological abnormalities in a series of 5 cases

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.

Keywords: Anomalías línea media cerebral; Baja visión; Displasia septoóptica; Hipoplasia de nervio óptico; Midline brain defects; Morsier syndrome; Nistagmus; Nystagmus; Optic nerve hypoplasia; Poor vision; Septo-optic dysplasia; Síndrome de Morsier.