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OPHTHALMOLOGICAL PRESENTATIONS OF THE RASOPATHIES: A CASE SERIES

Resumo

INTRODUCTION: RASopathies are a spectrum of mutations in genes that encode regulators of the RAS/mitogen-activated protein kinase (MAPK) pathway, with overlapping phenotypic features. This poster aims to address Noonan and CFC syndromes by describing three cases of patients with RASopathies, focusing on the ophthalmological presentation. CFC syndrome is a rare autosomal genetic mutation of the BRAF gene. Its presentation includes ptosis, amblyopia, strabismus, among others. Noonan syndrome is caused by mutations in the PTPN11 gene, and eyelid ptosis is present in 51% of cases. CASE REPORT: Patient 1: SSBH, male, DOB: 18/12/2009, suspected carrier of Noonan syndrome, was referred for evaluation. The examination revealed bilateral ptosis. Narrow palpebral fissure, presence of eyelid fold in the left eye (OS) and high eyebrow were observed. Bilateral suspension procedure was performed, resulting in an excellent postoperative outcome with improved head position. Patient 2: MBPM, male, DOB: 31/08/2015, presented with CFC syndrome, had congenital bilateral ptosis and abnormal head position. Examination findings revealed ptosis in both eyes, narrow palpebral fissure, limited excursion and signs of blepharophimosis. Bilateral frontalis suspension procedure and bilateral epicanthoplasty were performed. Four months after the procedure, there was a significant improvement in the patient's condition. Patient 3: E. H. S., male, DOB: 28/03/2019, presented with suspected CFC syndrome, was referred for examination due to congenital ptosis. The patient was already in treatment for amblyopia due to a narrow palpebral fissure. The examination revealed a narrow palpebral fissure measurement. The right eye lacked a distinct fold, while the left eye presented a slight marking of the palpebral fold. The course of action taken was correction of the ptosis and redoing the fold in the right eye. DISCUSSION: There is limited information in the literature regarding the ocular phenotype of CFC and Noonan syndromes, and it is even more scarce when it comes to its’ eyelid ptosis and management. The most notable finding in CFC syndrome was the variation in visual function among affected patients, in which decreased visual acuity appears to be common. Ptosis is in both syndromes, being more common in Noonan’s than in CFC’s. CONCLUSION: There is a clear need for new case reports of CFC and Noonan syndromes to clarify the diagnosis and treatment of the ocular changes associated with them.

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