Resumo

SANTANA HERNANDEZ, Elayne Esther et al. Presentation of a Patient with Norrie Disease. CCM [online]. 2013, vol.17, n.3, pp. 397-402. ISSN 1560-4381.

Norrie disease is a rare genetic disorder that is associated with chromosome X, affecting the eyes and often causes blindness. Besides congenital ocular symptoms, some patients suffer from progressive hearing loss, mainly from its second decade of life, while others may be affected by mental problems. The patients with this diagnosis may develop cataracts and leukocoria, together with other development eye disorders, such as shrinking of the eyeball and the iris wear. This paper presented a four- year- old boy with congenital blindness and family history of four uncles and male cousins, blind from birth, his mother worried requested genetic consultation, and she needed information to take into consideration for her next pregnancy. The informed everything about the disease and molecular study was performed.

Palavras-chave : Norrie disease; congenital blindness common in men; pseudoglioma.