학술논문
Functionally Relevant Maculopathy and Optic Atrophy in Spinocerebellar Ataxia Type 1
Document Type
article
Author
Source
Movement Disorders Clinical Practice. 7(5)
Subject
Language
Abstract
BackgroundSpinocerebellar ataxia type 1 (SCA-ATXN1) is an inherited progressive ataxia disorder characterized by an adult-onset cerebellar syndrome combined with nonataxia signs. Retinal or optic nerve affection are not systematically described.ObjectivesTo describe a retinal phenotype and its functional relevance in SCA-ATXN1.MethodsWe applied optical coherence tomography (OCT) in 20 index cases with SCA-ATXN1 and 22 healthy controls (HCs), investigating qualitative changes and quantifying the peripapillary retinal nerve fiber layer (pRNFL) thickness and combined ganglion cell and inner plexiform layer (GCIP) volume as markers of optic atrophy and outer retinal layers as markers of maculopathy. Visual function was assessed by high- (HC-VA) and low-contrast visual acuity (LC-VA) and the Hardy-Rand-Rittler pseudoisochromatic test for color vision.ResultsFive patients (25%) showed distinct maculopathies in the ellipsoid zone (EZ). Furthermore, pRNFL (P