@article {1401,
	title = {Compound heterozygous novel frameshift variants in the  gene result in Leber congenital amaurosis.},
	journal = {Cold Spring Harb Mol Case Stud},
	volume = {5},
	year = {2019},
	month = {2019 Dec},
	abstract = {<p>The  () gene encodes an 865-amino acid glycoprotein that is expressed in retinoblastoma cell lines and in the adult retina. The protein is localized to photoreceptor outer segment disc membranes, where it plays a structural role, and in the retinal pigment epithelium (RPE), where it acts as a cytosolic protein that mediates autophagy. Mutations in  are typically associated with cone-rod dystrophy 12 (OMIM$\#$3612657), autosomal dominant retinal macular dystrophy 2 (OMIM$\#$608051), autosomal recessive retinitis pigmentosa 41 (OMIM$\#$612095), and Stargardt disease 4 (OMIM$\#$603786). Here we describe the first case of -associated Leber congenital amaurosis (LCA) in a 12-yr-old Asian male, caused by two not previously described deleterious frameshift variants in the compound heterozygous state. Clinical features include the presence of bull{\textquoteright}s eye maculopathy, pendular horizontal nystagmus, and photodysphoria consistent with the clinical diagnosis of LCA. The patient was evaluated using ophthalmic imaging, electroretinography, and whole-exome sequencing. Electroretinography revealed extinguished retinal activity.</p>},
	issn = {2373-2873},
	doi = {10.1101/mcs.a004481},
	author = {Ragi, Sara D and Lima de Carvalho, Jose Ronaldo and Tanaka, Akemi J and Park, Karen Sophia and Mahajan, Vinit B and Maumenee, Irene H and Tsang, Stephen H}
}
