Wide-Field Fundus Autofluorescence in a Female Carrier of X-Linked Danon Disease

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File number: 134304

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    Appears in
    3-Jun-2026
    Condition/keywords
    Danon disease, LAMP2, female carrier, fundus autofluorescence (FAF), wide-field imaging, RPE mottling, hyperautofluorescence, hypoautofluorescence, inherited retinal disease
    Photographer
    Hector Colon
    Imaging device
    Optos california
    Description
    Wide-field fundus autofluorescence images of both eyes in a female carrier of X-linked Danon disease associated with a LAMP2 gene mutation. Images demonstrate a relatively preserved background autofluorescence pattern with scattered subtle mottled areas of increased and decreased autofluorescence. At baseline, a few small punctate hyperautofluorescent lesions are present in the peripheral retina. Over a 5-year follow-up period, these lesions become more numerous and widespread. These findings highlight progressive retinal pigment epithelium involvement in Danon disease, likely related to abnormal lipofuscin accumulation from impaired autophagic function.

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