Ocular manifestations in the mucopolysaccharidoses – a review

Abstract

P>Ocular manifestations are very common in all types of mucopolysaccharidoses (MPS) and often lead to visual impairment. They arise as a result of the accumulation of glycosaminoglycans deposits in ocular tissues or secondary to increased intracranial pressure. Typical ocular features in MPS include corneal clouding, retinopathy, glaucoma, optic disc swelling, optic atrophy, and ocular motility and refractive error problems. This paper reviews the ocular features in patients with MPS, discusses the diagnosis of these ocular features and the diagnostic problems that may arise in patients (children) with MPS, and highlights the central role ophthalmologists may play in the diagnosis and follow-up of these patients

Achados oculares em pacientes com mucopolissacaridoses

“…O alargamento do limbo superior que esteve presente em 5 pacientes. Estima-se que este achado pode estar relacionado à vascularização periférica da córnea devido à exposição corneal associada ao exorbitismo ou pode ser consequência de edema corneal crônico devido à PIO elevada (18) . Estreitamento da câmara anterior foi observado em ambos os olhos de um paciente com MPS I e um paciente com MPS VI.…”

The great masquerade: delayed diagnosis of mucopolysaccharidosis in adulthood

“…In addition to ocular pathology, skeletal, neurologic, cardiac, and/or gastrointestinal abnormalities are often present. 1 MPS is usually manifest in childhood, but attenuated forms may not be diagnosed until later in life.…”

“…2 ERG reduction in b-wave amplitude is seen in MPS. 1 Delayed diagnosis of MPS in adulthood is uncommon, 3,4 but it happens more often than desirable because of attenuated variants, a low index of suspicion for an uncommon disease, and myriad presentations that may mimic other diseases. In our case, a history of acromegaly contributed to a delay in diagnosis.…”

“…Most of the cases of pellucid marginal degeneration previously described in the literature presented as an area of inferior stromal thinning with a protrusion of the cornea above the thinned zone causing a high "against-the-rule" cylinder. 1 The presence of a high "with-the-rule" astigmatism at the time of …”

“…It occurs with a higher incidence in males. 1 It usually manifests as a slowly progressive decrease of vision because of the appearance of an "againstthe-rule" astigmatism that is progressive and often irregular. It is diagnosed by slit-lamp biomicroscopy, which shows a peripheral area of stromal thinning separated from the limbus by a healthy corneal area of 2 mm; then it is confirmed topographically.…”