Norrie disease (Q67447): Difference between revisions
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| description / pt-br | description / pt-br | ||
Doença de Norrie é uma displasia vitreorretiniana ligada ao X que afeta somente homens e se apresenta com leucocoria bilateral nas primeiras semanas de vida como resultado de uma massa esbranquiçada ou amarelada de retina imatura atrás do cristalino, e está associada a microftalmia, hipoplasia iriana, sinéquias, glaucoma e catarata e, em 1/3 dos casos, surdez neurossensorial bilateral. A doença de Norrie progride para cegueira. | |||
| description / en | description / en | ||
Norrie's disease is an X-linked vitreoretinal dysplasia that only affects males presenting with bilateral leukocoria in the first weeks of life as a result of a whitish or yellowish mass of immature retina behind the lens, and is associated with microphthalmia, hypoplastic irides, synechiae, glaucoma, and cataract, and in 1/3 of cases, bilateral perceptive deafness. Norrie disease progresses to blindness. | |||
Revision as of 15:16, 14 August 2026
Norrie's disease is an X-linked vitreoretinal dysplasia that only affects males presenting with bilateral leukocoria in the first weeks of life as a result of a whitish or yellowish mass of immature retina behind the lens, and is associated with microphthalmia, hypoplastic irides, synechiae, glaucoma, and cataract, and in 1/3 of cases, bilateral perceptive deafness. Norrie disease progresses to blindness.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_676214590 |
||
| English | Norrie disease |
Norrie's disease is an X-linked vitreoretinal dysplasia that only affects males presenting with bilateral leukocoria in the first weeks of life as a result of a whitish or yellowish mass of immature retina behind the lens, and is associated with microphthalmia, hypoplastic irides, synechiae, glaucoma, and cataract, and in 1/3 of cases, bilateral perceptive deafness. Norrie disease progresses to blindness. |
