Ophthalmologic findings in mucolipidosis III (pseudo-hurler polydystrophy)

Of eight patients with mucolipidosis III, hyperopic astigmatism, and corneal clouding, five had retinal and optic nerve abnormalities. Two patients had surface wrinkling maculopathy, four patients had various degrees of optic nerve head swelling, and two patients had retinal vascular tortuosity. Electrophysioldgic studies of the retina gave normal results in the four patients tested. Visual field defects were present in three of the four patients examined. Color vision was normal in three of the patients. Visual acuity remained unchanged in the seven patients clinically followed from one to 11 years (average, six years).