Earlier this year, the publication Spectral Domain Optical Coherence Tomography in Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: A Monogenic Small Vessel Disease came out in the Journal of Neuro-Ophthalmology by Dr. Irene de Boer in the Terwindt lab in the Netherlands. And though a mouthful of a title, this publication adds to our knowledge base about RVCL and, importantly, ways to improve early diagnosis.
Because several organs are affected in RVCL, including the eyes, analyzing retinal anatomy has become increasingly used as a biomarker for earlier diagnosis. In this study, Optical Coherence Tomograph (OCT) was used to analyze multiple retinal layers of RVCL patients (TREX1 mutation) compared to control, healthy individuals. OCT provides a noninvasive cross-sectional visualization of optic disc and macula, and a difference was observed in this study.
As still very little about OCT in RVCL patients is known, the authors decided to focus on one overall measurement of the peripapillary region (peripapillary retinal nerve fiber layer, pRNFL) thickness as well the macular region (total macular volume, TMV). The findings were that RVCL patients had significant reductions in the thickness of these layers, and it was important to look at both because pRNFL thinning has been observed in other hereditary diseases but without concurrent macula thinning. This study demonstrated retinal thinning in patients with RVCL in the peripapillary and macular area, even when the funduscopic examination was normal.
As the authors state, it is vital for patients with RVCL that they are recognized by ophthalmologists. Not only is ophthalmological monitoring critical, but neurological monitoring and treatment for anemia, hypertension, and kidney failure might be necessary. If the diagnosis is not recognized, this can lead to unnecessary, possibly harmful, biopsies (including, but not limited to, brain and kidney biopsies). Furthermore, misdiagnosis can have severe treatment implications. The diagnosis of RVCL should be suspected in adult patients of middle age presenting with vascular retinopathy and/or focal or global neurologic deficits, particularly in a positive family history of retinopathy or neurological diseases. Given that patients often present with vision loss, the ophthalmologist should be cautious in cases of vascular retinopathy without an apparent etiology.
More in-depth scientific information can be found here: https://pubmed.ncbi.nlm.nih.gov/34334759/
De Boer et al. Spectral Domain Optical Coherence Tomography in Retinal Vasculopathy With Cerebral Leukoencephalopathy and Systemic Manifestations: A Monogenic Small Vessel Disease. J Neuroophthalmol. 2022. PMID: 34334759