LCA type 10

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File number: 133035


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    Condition/keywords
    Photographer
    Stephen Tsang, MD, PhD
    Description
    LCA type 10 due to mutations in CEP290. 36-year-old male with best corrected visual acuity of light perception in both eyes since childhood. On color fundus imaging, there is a mix of polymorphous white flecks and pigmentary changes. On autofluorescence imaging, there is almost complete loss of macular RPE. On OCT, there is complete loss of inner and outer retinal layers, the greatest losses occurring centrally.

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