Abnormal Retinal Vessel Architecture in Albinism and Idiopathic Infantile Nystagmus

Abstract

Purpose Infantile nystagmus syndrome (INS) causes altered visual development and can be associated with abnormal retinal structure, to which vascular development of the retina is closely related. Abnormal retinal vasculature has previously been noted in albinism but not idiopathic infantile nystagmus. We compared the number and diameter of retinal vessels in participants with albinism (PWA) and idiopathic infantile nystagmus (PWIIN) with controls. Methods Fundus photography data from 24 PWA, 10 PWIIN, and 34 controls was analyzed using Automated Retinal Image Analyzer (ARIA) software on a field of analysis centered on the optic disc, the annulus of which extended between 4.2 mm and 8.4 mm in diameter. Results Compared with controls, the mean number of arterial branches was reduced by 24% in PWA (15.5 vs. 20.3, P < 0.001), and venous branches were reduced in both PWA (29%; 12.9 vs. 18.2, P < 0.001) and PWIIN (17%; 15.1 vs. 18.2, P = 0.024). PWA demonstrated 7% thinner “primary” (before branching) arteries (mean diameter: 75.39 µm vs. 80.88 µm, P = 0.043), and 13% thicker (after branching) “secondary” veins (66.72 µm vs. 59.01 µm in controls, P = 0.009). Conclusions PWA and PWIIN demonstrated reduced retinal vessel counts and arterial diameters compared with controls. These changes in the superficial retinal vascular network may be secondary to underdevelopment of the neuronal network, which guides vascular development and is also known to be disrupted in INS.

Visual Function and Neuropsychological Profiling of Idiopathic Infantile Nystagmus

“…The functional disruption of neuronal systems involved in ocular motility (fixation, pursuit, and saccades) has been proposed and is sustained by advanced imaging techniques [2,4,12]. Mild retinal developmental abnormalities have been recently reported in children with FRMD7 pathogenic mutations [13,14], supporting a sensory hypothesis for the IIN origin. Brodsky et al proposed a unifying hypothesis: the slow development of foveation would alter the maturation of the cortical pursuit and fail to inactivate the accessory optic system, a primitive subcortical structure [15].…”

Papillary and peripapillary vascular densities and corresponding correlation with peripapillary retinal thicknesses using optical coherence tomography angiography in healthy children and adolescents

“…The study of optic nerve head (ONH) perfusion has been recently popularized after progression in understanding glaucoma and ONH disease pathogeneses. It has been revealed that optic nerve circulation and anatomy may be altered by ocular diseases like high myopia 2 , infantile nystagmus 3 , optic disc drusen 4 , uveitis 5 , optic neuritis 6 , optic neuropathies 7 , glaucoma 8 , 9 , central nervus system (CNS) related disorders such as migraine 10 , epilepsy 11 , CNS tumors 12 , 13 , and systemic conditions like diabetes 14 and thalassemia 15 or drug induced changes 11 , 16 in both children and adults 12 , 17 , 18 . Prompt diagnosis and management are crucial to prevent further visual impairment and promote optimal visual development.…”