Spherophakia (Q46082): Difference between revisions
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Uma doença ocular causada por mutação homozigótica do gene LTBP2 (esferofacia isolada) ou por outras mutações genéticas. A doença é caracterizada por cristalinos pequenos e esféricos. A doença pode também cursar com miopia lenticular, glaucoma, ou subluxação do cristalino para a cavidade vítrea. | |||
| description / en | description / en | ||
A disease of the eye, caused by homozygous mutations in the LTBP2 gene (isolated spherophakia), or by other genetic mutations. This disease is characterised by small, spherical lenses. This disease can also present with lenticular myopia, glaucoma, or sublation of the lens into the vitreous cavity. | |||
Revision as of 14:25, 13 August 2026
A disease of the eye, caused by homozygous mutations in the LTBP2 gene (isolated spherophakia), or by other genetic mutations. This disease is characterised by small, spherical lenses. This disease can also present with lenticular myopia, glaucoma, or sublation of the lens into the vitreous cavity.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LA12.3 |
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| English | Spherophakia |
A disease of the eye, caused by homozygous mutations in the LTBP2 gene (isolated spherophakia), or by other genetic mutations. This disease is characterised by small, spherical lenses. This disease can also present with lenticular myopia, glaucoma, or sublation of the lens into the vitreous cavity. |
