Ocular findings in mannosidosis

Amir I. Arbisser, A. Linn Murphree, Charles A. Garcia, R. Rodney Howell

Research output: Contribution to journalArticlepeer-review

20 Scopus citations

Abstract

Three patients with typical features of mannosidosis and a deficiency of alphamannosidase activity, who were examined ophthalmologically, had similar lenticular opacities. Corneal opacities were absent. Chamber angle and striking ophthalmoscopic anomalies occurred in two young patients who had normal electroretinograms. Two patients had strabismus. Conjunctival biopsy specimens morphologically confirmed the lysosomal nature of this disorder. fa ]This study was supported in part by Medical Genetics Research grant GM 19513, Medical Genetics training grant GM00143, and the Houston Eye Fund. Presented in part at the Association for Research in Vision and Ophthalmology meetings, Houston, Texas, Nov. 7, 1975, and Sarasota, Florida, April 26, 1976.

Original languageEnglish (US)
Pages (from-to)465-471
Number of pages7
JournalAmerican journal of ophthalmology
Volume82
Issue number3
DOIs
StatePublished - Sep 1976
Externally publishedYes

ASJC Scopus subject areas

  • Ophthalmology

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