Oculoleptomeningeal amyloidosis in a patient with a TTR Val30Gly mutation in the transthyretin gene.

OBJECTIVE

To describe a patient with oculoleptomeningeal amyloidosis associated with infiltration of the vitreous, elevated intraocular pressures (IOPs), and seizures caused by a TTR Val30Gly mutation in the transthyretin gene.

DESIGN

Interventional clinicopathologic report.

PARTICIPANT

A 44-year-old man with refractory bilateral intermediate uveitis, elevated IOPs, and seizures.

INTERVENTION

The patient underwent diagnostic pars plana vitrectomy in both eyes. Intraocular and intracerebral pressures were controlled by trabeculectomy and cerebroventricular shunt placement, respectively.

MAIN OUTCOME MEASURES

Visual acuity, histopathologic analysis of vitreous and leptomeningeal tissue, genetic testing, and magnetic resonance imaging of the brain.

RESULTS

After failure of the patient to respond to topical and periocular corticosteroid therapy, a pars plana vitrectomy was performed and revealed amorphous material that showed green birefringence and dichroism on Congo red staining, establishing the diagnosis of vitreous amyloidosis. A full medical workup, including genetic testing, revealed a TTR Val30Gly mutation in the transthyretin gene. The patient subsequently developed elevated IOPs requiring bilateral trabeculectomy surgery and episodic seizures associated with leptomeningeal enhancement on magnetic resonance imaging. Histopathological analysis of a leptomeningeal biopsy taken at the time of surgery revealed amyloid infiltration, confirming the diagnosis of oculoleptomeningeal involvement by his amyloidosis. A ventriculoperitoneal shunt was placed.

CONCLUSION

Amyloidosis should be considered in patients who present with vitritis that is unresponsive to corticosteroid therapy. Vitreous biopsy with histopathological analysis is recommended in these cases. Additionally, sequencing of the transthyretin gene should be considered in patients with vitreous amyloidosis to help establish known genetic syndromes and predict both ocular and systemic comorbidities. Although not described previously, elevated IOP may develop in patients with vitreous amyloidosis due to a TTR Val30Gly mutation in the transthyretin gene.