Related Experiment Video

Updated: Aug 6, 2026

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model
08:03

Midface Hypoplasia and Cranial Base Morphology in Syndromic Craniosynostosis: A Comparative Analysis Study Using a Predictive Regression Model

Published on: November 4, 2025

Prevalence and causes of visual impairment in craniosynostotic syndromes

Tien Tay1, Frank Martin, Neil Rowe

  • 1Department of Ophthalmology, The Children's Hospital at Westmead, Sydney, NSW, Australia.

Clinical & Experimental Ophthalmology
|July 29, 2006
PubMed

Insights

Visual impairment is common in craniosynostosis syndromes, with amblyopia and refractive errors being key correctable causes. Early intervention is crucial for modifiable visual loss in these patients.

Area of Science:

  • Ophthalmology
  • Genetics
  • Pediatrics

Background:

  • Craniosynostotic syndromes, including Apert, Crouzon, Pfeiffer, Saethre-Chotzen, and craniofrontonasal dysplasia, are associated with craniofacial abnormalities.
  • Visual impairment is a recognized complication in these syndromes, necessitating evaluation of its prevalence and etiology.

Purpose of the Study:

  • To determine the prevalence and causes of visual impairment in patients diagnosed with craniosynostotic syndromes.
  • To identify risk factors associated with visual impairment, particularly amblyopia, in this patient population.

Main Methods:

  • Retrospective review of medical records from patients attending a Craniofacial Clinic between 1983 and 2004.
  • Assessment of presenting visual acuity (VA) using age-appropriate tests, with visual impairment defined as VA < 6/12 or inability to fix and follow.
  • Analysis of causes of visual impairment, including amblyopia, ametropia, optic atrophy, and exposure keratopathy.

Main Results:

  • Out of 63 identified patients, 55 had their VA assessed; 35.5% had bilateral and 9.1% had unilateral visual impairment.
  • Leading causes of visual impairment were ametropia (25%), amblyopia (16.7%), and optic atrophy (16.7%).
  • Risk factors for amblyopia included strabismus (43.3%) and astigmatism (39.5%). Papilledema was observed in 9.5% of patients.

Conclusions:

  • A significant prevalence of visual impairment exists in patients with craniosynostotic syndromes.
  • Nearly half of the visual impairments stem from potentially correctable conditions like amblyopia and ametropia.
  • Optic atrophy remains a critical cause, and further research is needed on interventions for modifiable visual loss.
Abstract

Related Concept Videos

Photoreceptors and Visual Pathways01:22

Photoreceptors and Visual Pathways

At the molecular level, visual signals trigger transformations in photopigment molecules, resulting in changes in the photoreceptor cell's membrane potential. The photon's energy level is denoted by its wavelength, with each specific wavelength of visible light associated with a distinct color. The spectral range of visible light, classified as electromagnetic radiation, spans from 380 to 720 nm. Electromagnetic radiation wavelengths exceeding 720 nm fall under the infrared category, whereas...
Glaucoma: Overview01:25

Glaucoma: Overview

Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...
Prosopagnosia01:24

Prosopagnosia

Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
Cranial and Spinal Meninges01:19

Cranial and Spinal Meninges

The cranial and spinal meninges are complex protective structures surrounding the central nervous system (CNS), consisting of the brain and spinal cord. These meninges consist of the dura mater, the arachnoid mater, and the pia mater. They protect the CNS, provide structural support, and aid in circulating cerebrospinal fluid (CSF).
Cranial Meninges
These meningeal layers cover the cranium. The dura mater is the outermost layer of cranial meninges. It is a thick and durable membrane of dense...