Abstract
Purpose :
The purpose of this retrospective case series was to determine the incidence of patients and describe cases with different diagnoses than Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) initially presenting with eyelid manifestations of blepharophimosis, suspected to have BPES.
Methods :
A retrospective review of consecutive cases of blepharophimosis at the Children’s Hospital of Philadelphia was performed over a 12 year period (2009-2020). Genetic diagnosis was considered for the differential diagnosis of BPES: Dubowitz, Schwartz-Jampel, Marden-Walker, Ohdo Blepharophimosis, Malpuech-Michels-Mingarelli-Carnevale, Smith-Lemli-Opitz, and Koolen de Vries syndromes. (Table 1) Furthermore, any genetic mutation that included FOXL2 but was associated with adjacent mutations were included.
Results :
137 consecutive patients with blepharophimosis were identified. 9 patients (7%) were diagnosed with systemic or other syndromic disorders other than BPES. Alternative diagnoses included Dubowitz syndrome (n=2), Ohdo syndrome (n=1), 22q11.2 duplication (n=1), and 3q22 deletion (n=2) which represented FOXL2 mutations with adjacent mutations. Three patients had multiple systemic abnormalities without a definite genetic diagnosis. Genetic evaluation was critical in all cases and allowed the patients to benefit from multi-disciplinary care such as immunology, oncology, endocrinology, gastroenterology, and cardiology. The clinical and genetic characteristics reflected among these 9 patients are in Table 2.
Conclusions :
Although blepharophimosis is most commonly associated with BPES, genetic investigation into other alternative syndromes is often warranted in the presence of other systemic disorders to provide comprehensive patient care to this unique pediatric population.
This is a 2021 ARVO Annual Meeting abstract.