Floating-Harbor syndrome with chorioretinal colobomas.

Area of Science:

• Genetics
• Ophthalmology
• Pediatrics

Background:

• Floating-Harbor Syndrome (FHS) is a rare autosomal dominant genetic disorder.
• FHS presents with diverse features including short stature, skeletal anomalies, and distinct facial characteristics.
• Bilateral chorioretinal coloboma (CC) is a rare ocular malformation.

Observation:

• A pediatric patient with clinical features suggestive of FHS underwent ophthalmological examination and whole genome sequencing.
• Ophthalmological assessments included visual acuity, optical coherence tomography (OCT), and Optos imaging.
• Genetic analysis identified a pathogenic variant in the SRCAP gene, confirming the FHS diagnosis.

Findings:

• The patient presented with bilateral inferior chorioretinal coloboma, a previously unreported association with FHS.
• OCT and Optos imaging visualized the extent and location of the chorioretinal coloboma.
• The genetic findings were consistent with the clinical diagnosis of FHS.

Implications:

• This report establishes a novel association between FHS and bilateral chorioretinal coloboma.
• Routine ophthalmological screening is recommended for individuals diagnosed with FHS to detect potential ocular anomalies.
• Early detection and management of ocular manifestations in FHS can prevent vision loss.