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Floating-Harbor syndrome with chorioretinal colobomas
Samantha Alanis1, M P Blair1, L M Kaufman2
1Retina Consultants, Ltd, Des Plaines, Illinois, USA.
Ophthalmic Genetics
|September 18, 2023
Summary
This case report details the first documented instance of Floating-Harbor Syndrome (FHS) associated with bilateral chorioretinal coloboma in a child. Early ophthalmological exams and genetic sequencing confirmed the FHS diagnosis and highlighted the importance of retinal screening.
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.
