Visual field loss in Sturge-Weber syndrome and phakomatosis pigmentovascularis: Implications for glaucoma assessment.

OBJECTIVES

To evaluate the patterns of visual field (VF) defects in patients with Sturge-Weber syndrome (SWS) and phakomatosis pigmentovascularis (PPV) using standard automated perimetry.

METHODS

This retrospective study analyzed the clinical and VF data of patients with SWS or PPV undergoing treatment for glaucoma and had VF test data over a 27-year period. VF defects were classified as glaucomatous, neurological, combined, or unclassifiable. Statistical analyses were performed to determine factors associated with type of field defects.

RESULTS

A total of 86 patients (172 eyes) were included, with 62 (72%) having SWS and 24 (28%) PPV. Glaucoma was present in 49.2% of SWS eyes and 91.6% of PPV eyes. Reliable VF tests were more common in SWS than in PPV ( P < 0.001). Glaucomatous defects were observed in 35.5% of eyes, 7.7% had neurological defects, and 4.1% had combined defects. Advanced field loss was the most common glaucomatous defect (54%). Eyes treated with external beam radiotherapy for diffuse choroidal hemangioma developed localized field defects mimicking glaucoma and homonymous hemianopia.

CONCLUSIONS

Glaucoma remains the primary cause of VF loss in SWS and PPV, with a significant proportion of patients demonstrating advanced glaucomatous damage. Accurate interpretation of VF results is crucial for differentiating glaucomatous progression from other ocular and neurological causes in these rare phakomatoses.