A case of Shawaf-Traboulsi syndrome presenting with optic nerve head edema: imaging and genetic testing

PURPOSE: To report a rare case of Shawaf-Traboulsi presenting with optic disc edema in the United States. CASE REPORT: A 23-year-old male with a history of bilateral microspherophakia requiring lens extraction at age 15. Facial dysmorphisms were noted, including malar hypoplasia and downward slanting palpebral fissures. Best corrected visual acuity was 20/30-1 OD and 20/70-1 OS and Goldmann applanation tonometry showed 6 mmHg OD and 11 mmHg OS. Slit-lamp exam demonstrated bilateral nasal subconjunctival filtering blebs and a superonasal staphyloma. Gonioscopy revealed peripheral anterior synechiae and a nasal angle discontinuity cleft OD. Diagnostic modalities included B-scan ultrasonography (demonstrating optic nerve head edema bilaterally) and anterior segment optical coherence tomography (AS-OCT), which revealed nasal filtration with formation of a scleral lake. Next-generation sequencing identified a homozygous variant in exon 25 of the ASPH gene, confirming Shawaf-Traboulsi syndrome. CONCLUSIONS: This represents one of the first documented cases of this syndrome in the United States and the first describing optic disc edema secondary to spontaneous filtering blebs. Early genetic testing is essential for appropriate diagnosis, counseling, systemic evaluation for cardiac anomalies, and preventing vision-threatening sequelae of Shawaf-Traboulsi syndrome.