Spherophakia (Q46082)

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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.
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LA12.3
    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.

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      CID11:LA12.3
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      dki-india-LA12.3
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      Concluído
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      13 August 2026
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