Monica P Gonzalez-Collazo, MD » 3-Jun-2026

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

    Jun 3 2026 by Monica P Gonzalez-Collazo, MD

    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.

    Photographer: Hector Colon

    Imaging device: Optos california

    Condition/keywords: Danon disease, female carrier, fundus autofluorescence (FAF), hyperautofluorescence, hypoautofluorescence, inherited retinal disease, LAMP2, RPE mottling, wide-field imaging