Management of Corneal Clouding in Patients with Mucopolysaccharidosis
Abstract
:1. Introduction
2. Corneal Clouding in MPS
3. Systemic Therapies and Their Effect on Corneal Clouding
3.1. Enzyme Replacement Therapy (ERT)
3.2. Hematopoietic Stem-Cell Transplantation (HSCT)
4. Surgical Treatment for Corneal Clouding
- The effect of visual impairment on the patient’s daily activities and quality of life, and the wishes of the patient to improve their vision;
- The exclusion of other ocular factors (retinopathy or optic neuropathy) as a cause of visual impairment;
- The condition of the ocular surface; dryness or vascularization of the cornea;
- The general health of the patient and their suitability for anesthesia.
4.1. Pre-Operative Planning for Keratoplasty
4.2. Penetrating Keratoplasty (PK)
4.3. Deep Anterior Lamellar Keratoplasty (DALK)
4.4. Postoperative Management
5. Future Corneal Clouding Treatment Options
5.1. Gene Therapy
5.2. Substrate Reduction Therapy
6. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Conflicts of Interest
References
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Disease | Corneal Opacity | Retinopathy | Optic Nerve Abnormalities | Glaucoma |
---|---|---|---|---|
MPS IH Hurler | Very common, mild to severe | Moderate, thickened ELM, parafoveal thinning, parafoveal retinal folds, bulls eye retinopathy | Common, mild to moderate | Uncommon, mild |
MPS IH/S Hurler–Scheie | Very common, mild to severe | Moderate, retinal pigment epithelial degeneration | Common, mild to moderate | Uncommon, mild |
MPS IS Scheie | Very common, mild to severe | Moderate | Quite common | Uncommon, mild |
MPS II Hunter | Rare | Moderate, Pigmented retinopathy | Moderate | Uncommon |
MPS III Sanfilippo A-D | Not usually significant | Moderate to severe, with pigmentary retinal degeneration | Rare | Rare |
MPS IV Morquio | Some cases, usually mild | Pigmentary retinopathy | Some cases reported | Some cases reported |
MPS VI Maroteau x-Lamy | Very common, often severe | Very rare, pigmented retinopathy, parafoveal retinal folds | Common | Unknown frequency |
MPS VII Sly | Mild to moderate, can be severe | Unknown frequency | Quite common | Unknown frequency |
MPS IX Natowicz | Unknown frequency | Unknown frequency | Unknown frequency | Unknown frequency |
MPS Type | Enzyme Defect | Glycosaminoglycan | Inheritance |
---|---|---|---|
MPS IH Hurler | α-L-Iduronidase | Dermatan sulphate, Heparin sulphate | AR |
MPS IH/S Hurler–Scheie | α-L-Iduronidase | Dermatan sulphate, Heparin sulphate | AR |
MPS IS Scheie | α-L-Iduronidase | Dermatan sulphate, Heparin sulphate | AR |
MPS II Hunter | Iduronate-2-sulfatase | Dermatan sulphate, Heparin sulphate | X-linked |
MPS IIIA Sanfilippo A | Heparan sulfamidase | Heparin sulphate | AR |
MPS IIIB Sanfilippo B | N-Acetyl-α-D-glucosaminidase | Heparin sulphate | AR |
MPS IIIC Sanfilippo C | Acetyl-CoA:αglucosaminidase N-acetyltransferase | Heparin sulphate | AR |
MPS IIID Sanfilippo D | N-Acetylglucosamine-6-sulfatase | Heparin sulphate | AR |
MPS IV Morquio | N-Acetylgalactosamine-6-sulfatase | Keratin sulphate | AR |
MPS VI Maroteaux-Lamy | N-acetylgalactosamine-4-sulfatase | Dermatan sulphate, | AR |
MPS VII Sly | β-D-Glucuronidase | Dermatan sulphate, Heparin sulphate, Chondroitin sulphate | AR |
MPS IX Natowicz | Hyaluronidase | Chondroitin sulphate | AR |
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McGrath, O.; Au, L.; Ashworth, J. Management of Corneal Clouding in Patients with Mucopolysaccharidosis. J. Clin. Med. 2021, 10, 3263. https://doi.org/10.3390/jcm10153263
McGrath O, Au L, Ashworth J. Management of Corneal Clouding in Patients with Mucopolysaccharidosis. Journal of Clinical Medicine. 2021; 10(15):3263. https://doi.org/10.3390/jcm10153263
Chicago/Turabian StyleMcGrath, Orlaith, Leon Au, and Jane Ashworth. 2021. "Management of Corneal Clouding in Patients with Mucopolysaccharidosis" Journal of Clinical Medicine 10, no. 15: 3263. https://doi.org/10.3390/jcm10153263