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References OMIM Gene GeneReviews HGMD HGNC
last update : 5/09/2006
Symbol RDLO
Location 11q23.3
Name retinal degeneration, late-onset
Corresponding gene C1QTNF5
Other symbol(s) LORD, LORMD
Main clinical features
  • defective vision in the mid-zone of the visual field and morphologic changes in the postequatorial retina . late-onset macular degeneration, long anterior zonules (LAZ), and elevated intraocular pressure . characterized by onset in the fifth to sixth decade of life, night blindness and punctate yellow-white deposits in the retina fundus, progressing to severe central and peripheral degeneration, with choroidal neovascularization and chorioretinal atrophy
  • Genetic determination autosomal dominant
    Function/system disorder eye
    Type disease
    Gene product
    Name C1q and tumor necrosis factor related protein 5
    Gene mutationChromosome rearrangementEffectComments
    missense     misfolded and retained within the endoplasmic reticulum (ER)and compromised RPE cell function