FLVCR1 Variant as a Cause of Retinal and Neurologic Dysfunction in Retinitis Pigmentosa with Coats-Like Vasculopathy:...

We report a unique clinical presentation of a patient with undiagnosed neurologic symptoms in the setting of retinitis pigmentosa (RP) with Coats-like reaction and FLVCR1 variant, expanding the presentation of FLVCR1 variants.

A 31-year-old Caucasian female with RP with Coats-like reaction initially presented to our clinic in August 2021 with worsening vision. Genetic testing identified the patient as heterozygous for FLVCR1 c.1092 + 5G>A and FLVCR1 c.1058C>T, p.(Thr353Met). The patient notably had a long-standing history of nyctalopia as well as complex neurologic symptoms without diagnosis. Neurologic presentation over 6 years included migraine headaches, decreased extremity strength, seizure-like episodes, and urinary incontinence. Progressive leg weakness and spasms eventually impaired weight bearing and ambulation. On presentation to the clinic again in February 2025, she reported progressive central vision loss, ocular pain OD, and persistent instability in her legs. OCT revealed cystoid macular edema, attenuated retinal vessels, and a large lipid exudation in the fovea OD. The patient was initiated on anti-VEGF therapy in February. Follow-up OCT 1 month later revealed a reduction in lipid exudation.

This case underscores the importance of considering an underlying FLVCR1 variant in patients with retinitis pigmentosa and atypical neurologic symptoms. Despite prior genetic testing, this patient's neurologic findings remained undiagnosed, highlighting the need for greater clinical awareness of neuro-ophthalmic manifestations of rare genetic disorders. Anti-VEGF therapy appears effective in reducing lipid exudation in Coats-like retinopathy.