Ectropion uveae in a pediatric patient with refractory NF1-associated glaucoma: a 4-year case report

Glaucoma secondary to neurofibromatosis type 1 (NF1) is a vision-threatening complication characterized by variable phenotypic expression. The prognostic significance of specific anterior segment signs, particularly ectropion uveae (EU), remains unclear.

We report a 7-year-old girl with NF1 who presented with unilateral refractory glaucoma and prominent EU in the affected eye. Despite maximal medical therapy and sequential surgical interventions, including microcatheter-assisted transluminal trabeculotomy, subsequent scar tissue excision with goniotomy, and two sessions of transscleral cyclophotocoagulation, intraocular pressure (IOP) remained uncontrolled. Implantation of a glaucoma drainage device (GDD) resulted in initial IOP reduction, with IOP maintained at 16/18 mmHg during the first 3 months. At 1 year post-GDD, IOP was 23 mmHg, and brinzolamide was subsequently added.

This 4-year longitudinal case highlights an association between prominent ectropion uveae and a refractory surgical course in this patient. Traditional angle surgeries appeared to carry a high risk of failure, whereas GDD implantation provided IOP reduction from 42 to 23 mmHg at 1 year, although adjunctive medication was subsequently required. This observation raises the question of whether earlier GDD implantation might prove beneficial in similar patients. However, this hypothesis requires validation in a larger series.