Background
Mucopolysaccharidoses (
MPS
s) are a group of rare lysosomal storage disorders characterized by the accumulation of glycosaminoglycans in various tissues and organs. Ocular problems that affect the cornea, trabecular meshwork, sclera, retina, and optic nerve are very common in these patients. However, there was limited literature focusing on comprehensive ocular findings in different types of
MPS
.
Methods
We retrospectively reviewed the clinical ophthalmologic features and electrodiagnostic results of 50 Taiwanese patients with a diagnosis of
MPS
(34 males and 16 females; age range, 1.1–34.9 years; nine with
MPS
I, 17 with
MPS II
, 17 with
MPS IV
, and seven with
MPS VI
).
Results
Among 44 patients with available data for visual acuity, 15 patients (34%) had a visual acuity of less than 0.5 (6/12) equivalent in their better eye, including 71% of those with
MPS VI
, 38% with
MPS IV
, 29% with
MPS
I, and 14% with
MPS II
. Severe corneal opacities existed in 57% of
MPS VI
patients and 11% of
MPS
I patients, compared with none for
MPS II
and
MPS IV
patients. Among 80 eyes with available data of refraction, 11 eyes (14%) had myopia (≦−0.50 D), 55 eyes (69%) had hyperopia (≧0.50 D), and 55 eyes (69%) had high astigmatism (≧1.50 D). Ocular hypertension was found in 45% (28/62) of eyes. There were 16% (14/90), 11% (10/90), 13% (12/90), 31% (27/86), and 79% (30/38) of
MPS
eyes with lens opacities, optic disc swelling, optic disc cupped, retinopathy, and visual pathway dysfunction, respectively. Intraocular pressure was positively correlated with the severity of corneal opacity (
p
<
0.01).
Conclusions
Ocular complications with significant reduction in visual acuity are common in
MPS
patients. Diagnostic problems may arise in these patients with severe corneal opacification, especially for those with
MPS VI
and
MPS
I.