PERIPHERAL RETINAL VASCULOPATHY IN COCKAYNE SYNDROME

Area of Science:

• Ophthalmology
• Genetics
• Medical Imaging

Background:

• Cockayne syndrome (CS) is a rare autosomal recessive disorder.
• Ophthalmic associations are well-described in CS.

Observation:

• A patient with CS Type 1 presented with characteristic features including growth delay, neurological dysfunction, premature aging, dental anomalies, hearing loss, and pigmentary retinopathy.
• Multimodal retinal imaging was employed for detailed analysis.

Findings:

• Peripheral retinal vasculopathy was identified as a novel fundus manifestation in CS.
• Foveal ellipsoid zone abnormalities were also observed as a new feature of CS.
• These findings expand the known ophthalmic associations of Cockayne syndrome.

Implications:

• This case report aids physicians in diagnosing Cockayne syndrome by highlighting new fundus imaging findings.
• Comprehensive fundus imaging of CS is provided, enhancing diagnostic capabilities.
• Early and accurate diagnosis of CS can be improved through recognition of these novel retinal signs.