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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.
Insights
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.
Background:
We present a case of a child with Floating-Harbor Syndrome (FHS) with bilateral chorioretinal coloboma (CC). To the best of our knowledge, this is the first case report of this association. Floating- Harbor syndrome is an extremely rare autosomal dominant genetic disorder with approximately 100 cases reported. It is characterized by a series of atypical features that include short stature with delayed bone age, low birth weight, skeletal anomalies, delayed speech development, and dysmorphic facial characteristics that typically portray a triangular face, deep-set eyes, long eyelashes, and prominent nose.
Materials And Methods:
Our patient was examined by a pediatric ophthalmologist for the time at age of 7. Visual acuity, optical coherence tomography (OCT) and Optos imaging were collected on every visit. The patient had whole genome sequencing ordered by a pediatric geneticist to confirm Floating-Harbor syndrome.
Results:
We present the patient's OCT and Optos images that illustrate the location of the patient's inferior chorioretinal coloboma in both eyes. The whole genome sequencing report collected revealed a heterozygous de novo pathogenic variant in the SRCAP gene, consistent with a Floating-Harbor syndrome diagnosis in the literature.
Discussion:
Both genetic and systemic findings are consistent with the diagnosis of Floating-Harbor syndrome in our patient. Rubenstein-Taybi and Floating-Harbor syndrome share a similarity in molecular and physical manifestations, but because of the prevalence in Rubenstein-Taybi diagnoses, it is a syndromic condition that includes coloboma and frequently associated with each other. Therefore, a retinal exam should become part of the standard protocol for those with FHS, as proper diagnosis, examination and treatment can prevent irreversible retinal damage.
