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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).

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  1. Thompson DA, Li Y, McHenry CL, Carlson TJ, Ding X, Sieving PA, et al. Mutations in the gene encoding lecithin retinol acyltransferase are associated with early-onset severe retinal dystrophy. National Genetics. 2001;28(2):123–4.

  2. Senechal A, Humbert G, Surget MO, Bazalgette C, Bazalgette C, Arnaud B, et al. Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. American Journal Ophthalmology. 2006; 142(4):702–4.

  3. den Hollander AI, Lopez I, Yzer S, Zonneveld MN, Janssen IM, Strom TM, et al. Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays. Invest Ophthalmology Vision Sciences. 2007 48(12):5690–8.

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