Ophthalmologic findings in mucolipidosis III (pseudo-hurler polydystrophy)

Elias I. Traboulsi, Irene H. Maurhenee

Research output: Contribution to journalArticlepeer-review

20 Scopus citations


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).

Original languageEnglish (US)
Pages (from-to)592-597
Number of pages6
JournalAmerican journal of ophthalmology
Issue number5
StatePublished - Nov 15 1986

ASJC Scopus subject areas

  • Ophthalmology


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