Corneal opacities in Gaucher disease

American Journal of Ophthalmology

Volumn 126, Issue 6, 1998, Pages 833-835

  Guemes, Adolfo ^a   Kosmorsky, Gregory S ^a   Moodie, Douglas S ^a   Clark, Brian ^a   Meisler, David ^a   Traboulsi, Elias I ^a  

^a LERNER RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CALCIFICATION; CASE REPORT; CLINICAL FEATURE; CORNEA OPACITY; DISEASE ASSOCIATION; GAUCHER DISEASE; GENE MUTATION; GENETIC ANALYSIS; HEART DISEASE; HUMAN; MALE; PRIORITY JOURNAL;

EID: 0032407551     PISSN: 00029394     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0002-9394(98)00249-9     Document Type: Article

References (5)

1. Beutler E., Grabowski G.A. Gaucher disease. Scriver C.R., Beaudet A.L., Sly W.S., Valle D. The metabolic and molecular bases of inherited disease. 1995;2641-2670 McGraw-Hill, New York.
2. Abrahamov A., Elstein D., Gross-Tsur V., et al. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype. Lancet. 346:1995;1000-1003.
3. Chabas A., Cormand B., Grinberg D., et al. Unusual expression of Gaucher's disease cardiovascular calcifications in three sibs homozygous for the D409H mutation . J Med Genet. 32:1995;740-742.
4. Uyama E., Takahashi K., Owada M., et al. Hydrocephalus, corneal opacities, deafness, valvular heart disease, deformed toes and leptomeningeal fibrous thickening in adult siblings a new syndrome associated with glucocerebrosidase deficiency and a mosaic population of storage cells . Acta Neurol Scand. 86:1992;407-420.
5. Uyama E., Uchino M., Ida H., et al. D409H/D409H genotype in Gaucher-like disease. J Med Genet. 34:1997;175.