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Abstract #113107 Published in IGR 24-3
Mucopolysaccharidosis
Bhakthaganesh K; Manumuraleekrishna ; Vanathi M; Ahmed S; Gupta N; Tandon RTaiwan journal of ophthalmology 2023; 13: 443-450
Mucopolysaccharidosis are group of inherited metabolic diseases caused by the absence or malfunctioning of lysosomal enzymes resulting in accumulation of glycosaminoglycans. Over time this accumulation damages cells, tissues, and organs. There are seven types of MPS and 13 subtypes that are associated with multiple organ systems, such as the respiratory, liver, spleen, central nervous systems, arteries, skeletons, eyes, joints, ears, skin, and/or teeth. The various types share some common ocular features that differ in terms of the severity of the affection. Visual loss in MPS patients is varied and can be due to corneal clouding, glaucoma, retinopathy, and optic neuropathy. The primary focus of this review is on changes in the cornea and anterior segment in MPS patients, including clinical and novel investigative modalities, current surgical management, effects of systemic therapy like hematopoietic stem cell transplants (HSCT)and enzyme replacement therapy (ERT), as well as significant research developments.
Cornea and Ocular Surface, Cataract and Refractive Services, Dr. R P Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
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