Norrie disease (ND). Presentation of a family case.

Olga M. Messina-Baas; Sergio A. Cuevas-Covarrubias

2005, Number 1

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Rev Mex Oftalmol 2005; 79 (1)

Norrie disease (ND). Presentation of a family case.

Messina-Baas OM, Cuevas-Covarrubias SA

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Language: Spanish
References: 22
Page: 37-39
PDF size: 39.48 Kb.

ABSTRACT

Norrie disease (ND) is characterized by congenital blindness due to proliferative and degenerative changes in retina and vitreous. One third of the patients harbor mental retardation and neurosensorial deafness. ND can be diagnosed after birth by the presence of leukocoria caused by anomalies in retrolental structures. Although ND is transmitted as an X-linked recessive trait, some female carriers can show ocular anomalies. ND gene is on Xp11.3-11.4 and spans 600 kb. Most of the patients present point mutations while a minor number of patients have deletions in the ND locus. In the present study, we analyzed a family with ND, which presented clinical variability. We also point out that it is important to establish a correct diagnosis and to identify the molecular defect in the ND gene in order to detect carriers and offer a correct genetic counseling.

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