Abstract
Purpose :
Mucopolysaccharidoses (MPS) are inherited metabolic disorders characterized by the absence or malfunctioning of lysosomal enzymes leading to an accumulation of glycosaminoglycans in several organs. Clinical symptoms vary depending on the subtype of MPS and can include e.g. a decline in physical and mental function, hydrocephalus, hepatosplenomegaly, heart failure, dysostosis multiplex. In MPS1 disease corneal clouding, optic nerve abnormalities, glaucoma and retinopathy are classic ocular features. The description of chorioretinopathy is insufficient. This cohort study evaluates spectral domain optical coherence tomography (SD-OCT)-based retinal thickeness as well as qualitative features in order to characterize chorioretinopathy in MPS1.
Methods :
The retrospective analysis included 25 MPS1 patients (22 Hurler, 3 Scheie phenotype). Best corrected visual acuity, slit lamp biomicroscopy of the anterior eye segment, funduscopy was performed. All patients underwent SD-OCT imaging in order to quantify retinal thickness. A total of 43 visits were documented. Outcome measures consisted of EDTRS subfield analyses including central retinal thickness (CRT), retinal thickness 3mm and 6mm parafoveal. In addition a subjective assessment of the SD-OCT images was performed regarding parapapillary choroidal atrophy and perifoveal choroidal atrophy. Correlation analyses were performed using the Spearman rank order test.
Results :
SD-OCT images of 25 patients were analysed. A significant negative correlation could be detected between retinal thickness 3 mm and 6mm parafoveal and age in the whole cohort. Furthermore, the subanalyses of the cohort of Scheie phenotype and Hurler phenotype revealed a significant negative correlation between retinal thickness 3 mm and 6mm parafoveal and age in both groups.
A cross sectional morphological analysis showed a parapapillary choroidal atrophy in 7/13 and a remarkable parafoveal choroidal atrophy in 5/13 MPS1 patients, in who the choroidea was evaluable.
Conclusions :
A parafoveal retinal atrophy, progressing with age, was detected in the cohort of MPS1 patients. According to these findings we recommend SD-OCT evaluation in all MPS1 patients for documentation of the chorioretinal status especially prior to corneal surgery as it may have impact on visual outcome. The presented data indicate the need of long term analyses to provide clear evidence on the course of retinal pathology in MPS1.
This abstract was presented at the 2023 ARVO Annual Meeting, held in New Orleans, LA, April 23-27, 2023.