Maria de los Angeles Cabrera Zuñiga » Miscellaneous

  • Choroideremia

    Apr 28 2025 by Maria de los Angeles Cabrera Zuñiga

    Fundus photograph of a 48-year-old man with choroideremia. Whole-exome sequencing revealed the variant NM_000390.4:c.1336del (p.Arg446Valfs*12) in the CHM gene.

    Photographer: Maria de los Angeles Cabrera Zuñiga. Hospital Militar de Especialidades Oftalmológicas.

    Imaging device: Optos

    Condition/keywords: CHM gene, choroideremia, x linked recessive