Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.
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ABSTRACT:
SUBMITTER: Grishchuk Y
PROVIDER: S-EPMC4715222 | biostudies-literature | 2016 Jan
REPOSITORIES: biostudies-literature
Publications
Retinal Dystrophy and Optic Nerve Pathology in the Mouse Model of Mucolipidosis IV.
Grishchuk Yulia Y Stember Katherine G KG Matsunaga Aya A Olivares Ana M AM Cruz Nelly M NM King Victoria E VE Humphrey Daniel M DM Wang Shirley L SL Muzikansky Alona A Betensky Rebecca A RA Thoreson Wallace B WB Haider Neena N Slaugenhaupt Susan A SA
The American journal of pathology 20151120 1
Mucolipidosis IV is a debilitating developmental lysosomal storage disorder characterized by severe neuromotor retardation and progressive loss of vision, leading to blindness by the second decade of life. Mucolipidosis IV is caused by loss-of-function mutations in the MCOLN1 gene, which encodes the transient receptor potential channel protein mucolipin-1. Ophthalmic pathology in patients includes corneal haze and progressive retinal and optic nerve atrophy. Herein, we report ocular pathology in ...[more]
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