Beyond the cataract: Comprehensive ophthalmologic and retinal imaging analysis in cerebrotendinous xanthomatosis.

Abstract

Background: Cerebrotendinous xanthomatosis (CTX) is a rare metabolic disorder characterized by cholesterol and cholestanol accumulation, leading to neurological and ocular complications. While cataracts and optic neuropathy are common, retinal structural and vascular alterations remain poorly understood.

Objective: To comprehensively evaluate ophthalmologic findings and retinal imaging characteristics in CTX patients.

Methods: This prospective, cross-sectional study included detailed ophthalmologic examinations of CTX patients, including best corrected visual acuity (BCVA), intraocular pressure (IOP), biomicroscopy, and fundus examination. Retinal imaging was performed using optical coherence tomography (OCT) and OCT-angiography (OCTA). Central foveal thickness (CFT), parafoveal retinal thickness (RT), ganglion cell layer thickness (GCLT), and vessel densities (VDs) of the superficial (SCP) and deep capillary plexus (DCP) were analyzed and compared with age-matched healthy controls.

Results: A total of 18 eyes from 9 CTX patients and 18 eyes from 9 controls were included. Five patients (55.5%) had prior cataract surgery. All eyes that underwent cataract surgery exhibited myopic/astigmatic refractive errors, and 3 (30%) had elevated IOP. Fundoscopy revealed optic disc hypoplasia, pallor, blurred disc margins, and increased vascular tortuosity in some cases (44.4%). BCVA, parafoveal RTs, and parafoveal SCP-VDs were significantly lower in CTX patients (P < .05). CFT, foveal SCP-VD, and GCLT were lower but not statistically significant (P > .05).

Conclusion: Cataracts and optic nerve abnormalities are the most common ocular findings in CTX. Eyes undergoing cataract surgery should be closely monitored for refractive errors and IOP. Retinal neurovascular pathologies can be detected noninvasively using OCT and OCTA imaging.