TY - JOUR
T1 - Ocular findings in mannosidosis
AU - Arbisser, Amir I.
AU - Murphree, A. Linn
AU - Garcia, Charles A.
AU - Howell, R. Rodney
N1 - Funding Information:
From the Departments of Pediatrics and Ophthalmology, University of Texas Medical School at Houston (Drs. Arbisser, Garcia, and Howell), and the Department of Ophthalmology, Baylor College of Medicine (Dr. Murphree), Houston, Texas. This study was supported in part by Medical Genetics Research grant GM 19513, Medical Genetics training grant GM00143, and the Houston Eye Fund.
PY - 1976/9
Y1 - 1976/9
N2 - 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.
AB - 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.
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U2 - 10.1016/0002-9394(76)90496-7
DO - 10.1016/0002-9394(76)90496-7
M3 - Article
C2 - 961797
AN - SCOPUS:0017152526
VL - 82
SP - 465
EP - 471
JO - American Journal of Ophthalmology
JF - American Journal of Ophthalmology
SN - 0002-9394
IS - 3
ER -