16/07/2025
Understanding Costello Syndrome: A Genetic Condition That Affects Vision Too
Costello Syndrome is a rare multisystem disorder caused by a mutation in the HRAS gene, often arising de novo (not inherited). It belongs to a group of syndromes called RASopathies, which affect cellular growth and development. Children with this syndrome may have distinctive facial features, intellectual delay, cardiac anomalies, skin and joint laxity, and importantly, ocular abnormalities (Lin et al., 2011; GARD, 2023).
Ocular and Visual Manifestations:
According to the American Academy of Ophthalmology and AAPOS, children with Costello Syndrome may present with:
• Strabismus (eye misalignment), affecting binocular vision development
• Nystagmus (involuntary eye movement), which can reduce visual acuity
• Ptosis (drooping eyelids), potentially causing amblyopia
• Refractive errors (hyperopia, myopia, astigmatism) that require early correction
• Optic nerve hypoplasia or crowded optic discs, affecting visual signal transmission (AAO, 2023; AAPOS, n.d.)
These ocular issues, if unrecognized, can lead to lazy eye (amblyopia), poor depth perception, and long-term visual disability.
At Medsync Vision Care Clinic, we go beyond routine eye checks. We provide:
✔️ Pediatric vision screening tailored for children with special or genetic needs
✔️ Advanced diagnostic tools to detect subtle structural anomalies
✔️ Early intervention strategies like prescription lenses, occlusion therapy, and specialist referrals
✔️ Co-management with pediatricians, geneticists, and neurologists
Early vision care = better brain development. The first 5 years of life are critical for developing neural connections responsible for seeing. For children with genetic syndromes like Costello, this window of opportunity is even more vital.
Don’t delay. If your child has a genetic condition or even just delayed motor or visual development book a pediatric eye exam with us. Early detection can preserve sight, improve learning, and enhance your child’s overall quality of life.