Ischemic Optic Neuropathy in a Female Carrier with Fabry’s Disease

1992 ◽  
Vol 205 (2) ◽  
pp. 83-88 ◽  
Author(s):  
Haruki Abe ◽  
Toyoaki Sakai ◽  
Shoichi Sawaguchi ◽  
Shigeru Hasegawa ◽  
Mineo Takagi ◽  
...  
Keyword(s):  
Optic Neuropathy ◽  
Female Carrier ◽  
Ischemic Optic Neuropathy ◽  
Fabry’S Disease ◽  
Fabry's Disease

Acute anterior ischemic optic neuropathy in a woman with Fabry's disease

2016 ◽  
Vol 39 (5) ◽  
pp. e119-e121 ◽  
Author(s):  
N. Bouheraoua ◽  
M. Paques ◽  
E. Basli ◽  
V. Borderie ◽  
L. Laroche
Keyword(s):  
Optic Neuropathy ◽  
Anterior Ischemic Optic Neuropathy ◽  
Ischemic Optic Neuropathy ◽  
Fabry’S Disease ◽  
Fabry's Disease

A Case of anterior ischemic optic neuropathy associated with Fabry’s disease

2008 ◽  
Vol 52 (5) ◽  
pp. 421-423 ◽  
Author(s):  
Ken Kumagai ◽  
Yoshinori Mitamura ◽  
Satoshi Mizunoya ◽  
Naoya Fujimoto ◽  
Shuichi Yamamoto
Keyword(s):  
Optic Neuropathy ◽  
Anterior Ischemic Optic Neuropathy ◽  
Ischemic Optic Neuropathy ◽  
Fabry’S Disease ◽  
Fabry's Disease

CONCENTRIC LAMELLAR SPHERES IN URINE FROM A FEMALE CARRIER OF AND PATIENTS WITH FABRY'S DISEASE

1985 ◽  
Vol 12 (1) ◽  
pp. 70-78 ◽  
Author(s):  
Sadanori Nagao ◽  
Norio Satoh ◽  
Shogo Inaba ◽  
Susumu Iijima
Keyword(s):  
Female Carrier ◽  
Fabry’S Disease ◽  
Fabry's Disease

Severe Orthostatic Hypotension in a Female Carrier of Fabry's Disease

1988 ◽  
Vol 45 (4) ◽  
pp. 468-472 ◽  
Author(s):  
T. Mutoh ◽  
Y. Senda ◽  
K. Sugimura ◽  
Y. Koike ◽  
Y. Matsuoka ◽  
...  
Keyword(s):  
Orthostatic Hypotension ◽  
Female Carrier ◽  
Fabry’S Disease ◽  
Fabry's Disease

MZ Female Twins Discordant For X-Linked Diseases: A Review

1994 ◽  
Vol 43 (3-4) ◽  
pp. 207-214 ◽  
Author(s):  
G. Tiberio
Keyword(s):  
Genetic Counselling ◽  
X Inactivation ◽  
Female Carrier ◽  
Normal Allele ◽  
Fabry’S Disease ◽  
Fabry's Disease ◽  
Inactivation Pattern ◽  
Normal Twin

AbstractThe 20 reported cases of MZ female twins discordant for X-linked diseases are reviewed. In such twins the X-inactivation pattern is opposite skewing (abnormal allele inactivated in most cells of the normal twin, and normal allele inactivated in most cells of the affected twin) or skewing in one twin and random in the cotwin. The diseases involved map in two specific regions: Xq27-28 and Xp21. The only exceptions are Fabry's disease and Aicardi's syndrome, which map in Xq22 and Xp22 respectively. No concordant MZ female carrier twins, either normal or affected, have been described. Three main hypotheses have been proposed to explain such characteristics [2, 5, 14], but none is completely satisfactory. The constant discordance for X-linked diseases in MZ female twins has important consequences for genetic counselling.

scholarly journals Fabry's disease in a female carrier with bilateral thalamic infarcts: a case report and a family study

1994 ◽  
Vol 112 (4) ◽  
pp. 649-653 ◽  
Author(s):  
Luiz Henrique Martins Castro ◽  
Mario Luiz Ribeiro Monteiro ◽  
Egberto Reis Barbosa ◽  
Milberto Scaff ◽  
Horacio Martins Canelas
Keyword(s):  
Central Nervous System ◽  
Unusual Case ◽  
Family Study ◽  
Female Carrier ◽  
Fabry’S Disease ◽  
Fabry's Disease ◽  
Her Family ◽  
Stroke In Young Adults ◽  
Thalamic Infarcts ◽  
Stroke In Young

An unusual case of a young woman, heterozygote for Fabry gene is reported, who presented bilateral thalamic infarcts due to occlusions of central nervous system vessels. Three other members of her family were studied. Fabry's disease (angiokeratoma corporis diffusum) is included among the rare causes of ischemic stroke in young adults.

Fabry's disease

1972 ◽  
Vol 105 (5) ◽  
pp. 774-774
Author(s):  
A. Chaitin
Keyword(s):  
Fabry’S Disease ◽  
Fabry's Disease
Sign in / Sign up

Export Citation Format

Share Document