Sawar Zahid MS, MD, Kari Branham MS, CGC, Dana Schlegel MS, MPH, CGC, Mark E. Pennesi MD, PhD, Michel Michaelides MB, MD, John Heckenlively MD & Thiran Jayasundera MD | Jun 26, 2018 | In: Retinal Dystrophy Gene Atlas |
LRAT encodes lecithin retinol acyltransferase, which catalyzes the earlier reactions in the retinoid visual pathway in the retinal pigment epithelium (RPE). Recessive mutations in LRAT cause a spectrum of disease that ranges from Leber congenital amaurosis (LCA) to forms of “juvenile” or “early-onset” retinitis pigmentosa (RP) that present slightly later in life (1–3).
Read the article: doi.org/10.1007/978-3-319-10867-4_44
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