Surgical Management Of Severe Juvenile Glaucoma In Traboulsi Syndrome: Spontaneous Filtering Blebs And A Novel Asph Variant (C.1552G>T; P.Gly518ter)

To describe two patients with a phenotype consistent with Traboulsi syndrome/FDLAB (facial dysmorphism, lens dislocation, anterior segment abnormalities, spontaneous filtering blebs) complicated by aggressive juvenile glaucoma and scleral thinning. We aim to highlight diagnostic constraints in advanced disease (poor corneal clarity, limited posterior segment view, unreliable visual fields), outline stepwise surgical management and report a novel homozygous truncating ASPH variant supporting the diagnosis and expanding the genetic spectrum.

Tertiary referral care at Academician Zarifa Aliyeva National Eye Center. One patient was managed between 2009-2011; the second was evaluated and treated in 2022, including genetic testing and complex glaucoma and anterior segment surgery.

Observational case series (n=2). Comprehensive ophthalmic examination included best corrected visual acuity (BCVA), slit-lamp biomicroscopy, intraocular pressure (IOP), measurement by Maklakov and non-contact tonometry, and B-scan ultrasonography when media opacity prevented fundus assessment. Visual field and optic nerve evaluation were limited by corneal edema and advanced pathology. Management focused on preventing perforation and infection while achieving IOP control: scleral patch grafting for scleromalacia and spontaneous bleb complications; subsequent individualized tube shunt surgery and combined anterior segment procedures for lens instability when indicated. Genetic analysis was performed in one patient.

2 patients had craniofacial dysmorphism, bilateral buphthalmos, ectopia lentis, scleral thinning and spontaneous filtering blebs. A 14-year-old male presented with uncontrolled IOP (35 mmHg) in the left eye (OS) despite therapy. The right eye (OD) progressed to no light perception and required evisceration due to post-traumatic endophthalmitis. After scleral patch grafting, Ahmed valve implantation, iridectomy, phacoaspiration and anterior vitrectomy were performed in OS, improving BCVA to 20/400 and reducing IOP to 23 mmHg. Genetic testing identified a novel homozygous ASPH variant not previously reported. The second patient developed bleb perforation (IOP 4 mmHg) and underwent bilateral scleral patch grafting, stabilizing IOP to 16 mmHg.

Conclusion

Traboulsi syndrome/FDLAB can cause severe early-onset glaucoma with spontaneous filtering blebs and profound scleral fragility, making standard glaucoma diagnostics and surgery challenging, and increasing risks of hypotony, perforation and infection. A staged, anatomy-driven approach: scleral reinforcement followed by carefully selected tube-based glaucoma surgery and combined procedures for lens and anterior segment pathology may preserve residual vision and stabilize IOP in the remaining eye. Identification of a novel homozygous truncating ASPH variant (c.1552G>T; p.Gly518Ter) broadens the known pathogenic spectrum and emphasizes the value of genetic confirmation and early surveillance.