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Evisceration of Mouse Vitreous and Retina for Proteomic Analyses
Published on: April 3, 2011
Retinal microstructual and microvascular changes in mucopolysaccharidoses
Lucas Wipprecht1,2, Anna J Borchers3, Julia V Stingl3
1Department of Ophthalmology, University Medical Center of the Johannes Gutenberg-University of Mainz, Mainz, Germany. lwipprec@students.uni-mainz.de.
Purpose:
To analyse ocular manifestations of MPS in the posterior segment of the eye, in particular retinal and optic disc pathologies, compared to healthy controls.
Methods:
This prospective study analyzed structural and functional posterior eye changes in 29 MPS patients (58 eyes) compared to 29 healthy, age- and gender-matched controls. Examinations included visual acuity testing, orthoptic status, intraocular pressure (IOP) measurement, visual field testing, slit-lamp examination and fundus examination, Spectral-Domain Optical Coherence Tomography (SD-OCT), OCT-Angiography (OCT-A) and High Magnification Module® (HMM®) imaging.
Results:
LogMAR visual acuity (p < 0.001) and IOP (p < 0.001) were significantly worse/higher in MPS patients. Visual field defects showed a concentric restriction pattern, resembling to pigmentary retinopathy. Fundus examination of 56 eyes revealed optic disc atrophy in two eyes (all MPS II), atrophic macula in two eyes (both MPS II) and pigmentary retinopathy in twelve eyes (6 MPS II, 6 MPS IV). Total retinal thickness was significantly reduced in the parafoveal (p < 0.001) and perifoveal (p < 0.001) macula area in MPS, especially in MPS II patients. Peripapillary retinal nerve fiber layer thickness correlated positively with IOP (p = 0,015) in the MPS group. OCT-A findings revealed reduced capillary density of the parafoveal and perifoveal retina in 8/22 eyes in the MPS group (2 MPS I, 4 MPS II, 2 MPS IV). Rarefaction of the photoreceptor mosaic was observed in some MPS patients on HMM imaging.
Conclusion:
MPS patients exhibit impaired visual acuity and visual fields, higher IOP, and mircostructural and microvascular alterations of the optic disc and retina compared to healthy subjects.
Insights
Mucopolysaccharidoses (MPS) patients show significant vision impairment, including reduced visual acuity and visual fields, along with higher intraocular pressure (IOP). This study reveals microstructural and microvascular damage in the optic disc and retina of MPS patients compared to controls.
Area of Science:
- Ophthalmology
- Genetics
- Metabolic Disorders
Background:
- Mucopolysaccharidoses (MPS) are rare genetic disorders.
- Ocular manifestations are common in MPS, impacting vision.
- Posterior segment involvement requires detailed investigation.
Purpose of the Study:
- To analyze ocular manifestations in the posterior segment of the eye in MPS patients.
- To specifically investigate retinal and optic disc pathologies.
- To compare findings in MPS patients with healthy controls.
Main Methods:
- Prospective study of 29 MPS patients and 29 age/gender-matched healthy controls.
- Comprehensive eye examinations including visual acuity, IOP, visual fields, funduscopy.
- Advanced imaging techniques: Spectral-Domain Optical Coherence Tomography (SD-OCT), OCT-Angiography (OCT-A), and High Magnification Module (HMM).
Main Results:
- MPS patients had significantly worse visual acuity (p<0.001) and higher IOP (p<0.001).
- Retinal findings included optic disc atrophy, macular atrophy, and pigmentary retinopathy, particularly in MPS II.
- Reduced retinal thickness and capillary density were observed in MPS patients, correlated with IOP.
Conclusions:
- MPS patients exhibit significant visual impairment and elevated IOP.
- Microstructural and microvascular alterations in the optic disc and retina are characteristic of MPS.
- Early detection and monitoring of posterior segment changes are crucial for MPS management.
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