age-related macular degeneration type 5, susceptibility to
age-related macular degeneration type 5, susceptibility toA form (OMIM:613761) of age-related macular degeneration, a multifactorial eye disease and the most common cause of irreversible vision loss in the developed world. In most patients, the disease is manifest as ophthalmoscopically visible, yellowish accumulations of protein and lipids that lie beneath the retinal pigment epithelium and within an elastin-containing structure, Bruch’s membrane.
Defects of ERCC6, which encodes a protein involved in transcription-coupled nucleotide excision repair, cause age-related macular degeneration type 5.
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