Mucopolysaccharidoses (MPS) are a heterogeneous group of rare inherited disorders, characterized by the lack or malfunction of lysosomal enzymes necessary for glycosaminoglycan (GAGs) catabolism, and their subsequent accumulation in many tissues and organs throughout the body. An overview of the current knowledge of corneal and anterior segment manifestations in patients with MPS was provided and clinical guidelines for their diagnosis and management were furnished. The anterior segment of the eye is usually involved in every subtype of MPS, with major complications including varying degrees of corneal opacification and raised intraocular pressure (IOP) with development of glaucoma. Their recognition and management can be very useful in the diagnosis of MPS. Novel techniques are available to objectively measure the grade and extent of corneal clouding and give information about the anatomy of the anterior chamber and the structures of the angle beyond the clouded cornea. It is advisable to take advantage of this new instrumentation in order to obtain thorough information on the ocular involvement and its related anterior chamber complications for a better management of patients with MPS, both in terms of visual prognosis and therapeutic outcome.
Involvement of the Anterior Segment of the Eye in Patients with Mucopolysaccharidoses: A Review of Reported Cases and Updates on the Latest Diagnostic Instrumentation
Rama P.;
2017-01-01
Abstract
Mucopolysaccharidoses (MPS) are a heterogeneous group of rare inherited disorders, characterized by the lack or malfunction of lysosomal enzymes necessary for glycosaminoglycan (GAGs) catabolism, and their subsequent accumulation in many tissues and organs throughout the body. An overview of the current knowledge of corneal and anterior segment manifestations in patients with MPS was provided and clinical guidelines for their diagnosis and management were furnished. The anterior segment of the eye is usually involved in every subtype of MPS, with major complications including varying degrees of corneal opacification and raised intraocular pressure (IOP) with development of glaucoma. Their recognition and management can be very useful in the diagnosis of MPS. Novel techniques are available to objectively measure the grade and extent of corneal clouding and give information about the anatomy of the anterior chamber and the structures of the angle beyond the clouded cornea. It is advisable to take advantage of this new instrumentation in order to obtain thorough information on the ocular involvement and its related anterior chamber complications for a better management of patients with MPS, both in terms of visual prognosis and therapeutic outcome.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
