Abstract ID: 26-384
A 15-year Single Center Review of Ptosis in Noonan Syndrome: Genotype-Specific Surgical Outcomes and Complication Patterns in a Pediatric Cohort
Author: Zahra Markatia Base Hospital / Institution: Baylor College of Medicine
Presentation Type: ePoster Presentation
Purpose
To characterize ptosis patterns, surgical management, and outcomes by genotype in patients with Noonan syndrome (NS) and NS-like syndromes.
Methods
Retrospective chart review of patients seen at Texas Children’s Hospital Ophthalmology clinic (2010–2025) with ICD-10 Q87.19 and clinical or molecular diagnosis of NS/NS-like syndrome. Demographic, genetic, systemic, and ophthalmic data were collected in REDCap.
Results
Ninety-six patients were identified; 88 (92%) had molecular confirmation. Most common mutations were PTPN11 (50%, n=44), SOS1 (15.9%, n=14), KRAS (10.2%, n=9), and RIT1 (7.9%, n=7). Ptosis occurred in 36 patients (38%), including 32 molecularly confirmed cases. Ptosis was less common in PTPN11 (23%, p=0.007) and more common in KRAS patients (89%, p=0.001).
Among molecularly confirmed ptosis patients (n=32), 55 eyes were affected; 31 (56%) were surgical candidates. Nineteen eyes underwent primary surgery at TCH, nine at outside hospitals, and three remain scheduled. Among PTPN11-associated ptotic eyes (n=18), 44% required surgery; among KRAS eyes (n=14), 57% required surgery. Only 1/10 SOS1-associated eyes required surgery (p=0.017).
Procedures at TCH included silicone frontalis sling (n=9), e-PTFE sling (n=4), levator resection (n=5), and Müller muscle-conjunctival resection (n=1). Lagophthalmos requiring revision occurred in four eyes: two after levator resection in a bilateral PTPN11 patient and two after silicone sling in a bilateral RIT1 patient, the latter requiring four procedures per eye before resolution.
Conclusion
This is the largest single-center study of ptosis surgical outcomes in NS to date. Surgical repair carries a risk of lagophthalmos requiring revision, particularly following silicone frontalis sling and levator resection, with the severity of revision burden varying by both procedure type and genotype. Surgery was overall safe and well-tolerated, with no major bleeding or cardiac complications observed, including with the use of local anesthesia. These findings support genotype-informed ophthalmic surveillance and peri-operative planning in NS.
Additional Authors
| First name | Last name | Base Hospital / Institution |
|---|---|---|
| Caroline | Keehn | Baylor College of Medicine |
| George | Villatoro | Baylor College of Medicine |
| Katherine | Williams | Baylor College of Medicine/Texas Children’s Hospital |
| Richard | Allen | Baylor College of Medicine/Texas Children’s Hospital |