Optic nerve disorders and reduced visual acuity in children. Differential diagnosis

Abstract

Aims/Purpose: Low visual acuity (VA) in children requires meticulous investigation in search of possible organic causes. Once an alteration in the optic nerve (ON) has been detected, differential diagnosis is essential due to the different prognosis and management of each entity.Methods: We report the case of a 10‐year‐old black girl who went to the ophthalmologist for decreased VA in the left eye (LE) with no other history, signs or symptoms. On examination she had VA in the right eye (RE) 1 (Snellen decimal scale) and 0.1 LE. No torticollis or stereopsis, exotropia and convergence deficit in the LE. Normal fundus of eye (FE) RE; LE papilla larger and pale, centred staphylomatous excavation with central whitish area, vessels emanating from the periphery of the ON and alteration of the surrounding pigmentation, peripheral retina hypopigmented. Optical coherence tomography (OCT) of macula was normal; of the ON was very altered. Ultrasound showed protrusion of the LE “bottleneck” disc.Results: In view of the suspicion of Morning Glory Syndrome (MGS), magnetic resonance imaging (MRI) and angio‐MRI were requested to rule out alterations in the central nervous system (CNS), especially vascular malformations. After explaining the findings and poor visual prognosis we opted for occlusions in the RE, improving VA to 0.2 OI. We consulted paediatrics, genetic testing and close follow‐up, paying special attention to the retina due to the association with choroidal neovascularisation (CNV) and retinal detachment (RD).Conclusions: The characteristics of MGS can be confused with other pathologies, especially ON coloboma. Peripapillary staphyloma, ON dysplasia or aplasia, advanced glaucoma, Aicardi's disease and Papillorenal disease must be ruled out. Once diagnosed, possible systemic associations must be studied due to their potential severity and follow‐up is essential, as a high percentage will present ophthalmological complications.