Neuro-Ophthalmological Manifestations of Craniosynostosis: Current Perspectives

Abstract

Craniosynostosis, a premature fusion of cranial sutures that can be isolated or syndromic, is a congenital defect with a broad, multisystem clinical spectrum. The visual pathway is prone to derangements in patients with craniosynostosis, particularly in syndromic cases, and there is a risk for permanent vision loss when ocular disease complications are not identified and properly treated early in life. Extensive advancements have been made in our understanding of the etiologies underlying vision loss in craniosynostosis over the last 20 years. Children with craniosynostosis are susceptible to interruptions in visual input arising from strabismus, refractive errors, and corneal damage; any of these aberrations can result in understimulation of the visual cortex during childhood neurodevelopment and permanent amblyopia. Elevated intracranial pressure resulting from abnormal cranial shape or volume can lead to papilledema and, ultimately, optic atrophy and vision loss. A pediatric ophthalmologist is a crucial component of the multidisciplinary care team that should be involved in the care of craniosynostosis patients and consistent ophthalmologic follow-up can help minimize the risk to vision posed by such entities as papilledema and amblyopia. This article aims to review the current understanding of neuro-ophthalmological manifestations in craniosynostosis and explore diagnostic and management considerations for the ophthalmologist taking care of these patients.

Septo-optic dysplasia in an infant

“…Septo-optic dysplasia syndrome (SOD) or “de Morsier's Syndrome” is a rare heterogeneous condition [ 1 , 2 ] characterized by optic nerve hypoplasia (ONH) in 75%-80% [2] , neuro-radiological abnormalities such as agenesis of midline structures (Septum pellucidum [SP] 60% and corpus callosum), and hypoplasia of the hypothalamic-pituitary axis causing hypopituitarism 63% [3] , [4] , [5] . The diagnostic criteria require 2 or 3 features of this classical triad [ 2 , 3 , 5 ].The etiology of SOD is still unclear. Many authors describe the relationship between genetic mutations (HESX1, SOX2/SOX3, and OTX2) and environmental factors as: young maternal age (under 22 years) and primiparity [3] , [4] , [5] , [6] .…”

“…The diagnostic criteria require 2 or 3 features of this classical triad [ 2 , 3 , 5 ].The etiology of SOD is still unclear. Many authors describe the relationship between genetic mutations (HESX1, SOX2/SOX3, and OTX2) and environmental factors as: young maternal age (under 22 years) and primiparity [3] , [4] , [5] , [6] . The clinical manifestations are visual disturbances (23%) such as nystagmus, strabismus, astigmatism, amblyopia, hypopituitarism in 62%-80% of cases, and neurological symptoms (70%) which are usually late manifestations initiated by seizures and evolving into mental delay and tetraparesis [5] .…”

“…Many authors describe the relationship between genetic mutations (HESX1, SOX2/SOX3, and OTX2) and environmental factors as: young maternal age (under 22 years) and primiparity [3] , [4] , [5] , [6] . The clinical manifestations are visual disturbances (23%) such as nystagmus, strabismus, astigmatism, amblyopia, hypopituitarism in 62%-80% of cases, and neurological symptoms (70%) which are usually late manifestations initiated by seizures and evolving into mental delay and tetraparesis [5] . The diagnosis of SOD is complex and is made by identifying the classic triad of clinical features and is confirmed by high-resolution magnetic resonance (MRI) which is very valuable to identify the optic nerve, chiasm hypoplasia, and congenital brain malformations [3] .…”

“…The diagnosis of SOD is complex and is made by identifying the classic triad of clinical features and is confirmed by high-resolution magnetic resonance (MRI) which is very valuable to identify the optic nerve, chiasm hypoplasia, and congenital brain malformations [3] . Also further neuro-endocrinological tests may be needed [5] . SOD is a heterogeneous condition that requires multidisciplinary management with ophthalmological assessment, hormonal replacement, and neurological follow-up [ 1 , 5 ].…”

“…Also further neuro-endocrinological tests may be needed [5] . SOD is a heterogeneous condition that requires multidisciplinary management with ophthalmological assessment, hormonal replacement, and neurological follow-up [ 1 , 5 ].…”