[Ocular alterations in a pediatric patient with Dandy-Walker malformations: case report]

Area of Science:

• Neuroscience
• Ophthalmology
• Pediatrics

Background:

• Dandy-Walker syndrome is a rare congenital brain malformation characterized by cystic dilatation of the fourth ventricle and hypoplasia of the cerebellar vermis.
• Ocular abnormalities can occur in conjunction with central nervous system malformations, impacting visual development.

Observation:

• A 1-year-and-9-month-old female presented with Dandy-Walker syndrome and significant ocular findings.
• Ocular examination revealed low visual acuity, megalocornea (13-13.5 mm), optic disc excavation (0.7) with temporal pallor in both eyes, and normal intraocular pressure (14-16 mmHg).
• The anteroposterior diameter of the eyes was measured at 20.55 mm bilaterally.

Findings:

• The case illustrates a rare association between Dandy-Walker syndrome and specific ocular alterations, including megalocornea and optic nerve anomalies.
• The observed ocular findings suggest potential challenges in visual development and function in infants with this syndrome.
• Detailed ophthalmological assessment is crucial for patients diagnosed with Dandy-Walker syndrome.

Implications:

• Early identification and management of ocular complications in Dandy-Walker syndrome are essential for optimizing visual outcomes.
• This case contributes to the understanding of the spectrum of clinical manifestations associated with Dandy-Walker syndrome.
• Further research is warranted to elucidate the pathogenic mechanisms linking Dandy-Walker syndrome and ocular dysgenesis.