Cone-rod dystrophy and cone dystrophy
Definition:
References:
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[1]. A Abid, et al. Identification of novel mutations in the SEMA4A gene associated with retinal degenerative diseases. J Med Genet. 2006 Apr;43(4):378-81. [Content Brief]
[2]. Alejandro Estrada-Cuzcano, et al. Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. Am J Hum Genet. 2012 Jan 13;90(1):102-9. [Content Brief]
[3]. Bernd Wissinger, et al. Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response. Hum Mutat. 2011 Dec;32(12):1398-406. [Content Brief]
[4]. Christian P Hamel, et al. Cone rod dystrophies. Orphanet J Rare Dis. 2007 Feb 1;2:7. [Content Brief]
[5]. Katharina Agnes Wycisk, et al. Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet. 2006 Nov;79(5):973-7. [Content Brief]
[6]. Linda Köhn, et al. Mutation in the PYK2-binding domain of PITPNM3 causes autosomal dominant cone dystrophy (CORD5) in two Swedish families. Eur J Hum Genet. 2007 Jun;15(6):664-71. [Content Brief]
[7]. Malena Daich Varela, et al. PDE6C: Novel Mutations, Atypical Phenotype, and Differences Among Children and Adults. Invest Ophthalmol Vis Sci. 2020 Oct 1;61(12):1. [Content Brief]
[8]. Mohammed E El-Asrag, et al. Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement. Am J Hum Genet. 2015 Jun 4;96(6):948-54. [Content Brief]
[9]. N A Adams, et al. The retinal ciliopathies. Ophthalmic Genet. 2007 Sep;28(3):113-25. [Content Brief]
[10]. Panagiotis I Sergouniotis, et al. Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy. Am J Hum Genet. 2014 May 1;94(5):760-9. [Content Brief]
[11]. Renae Elaine Bertrand, et al. Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy. Genet Med. 2021 Mar;23(3):488-497. [Content Brief]
[12]. Susanne Roosing, et al. Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. Am J Hum Genet. 2013 Jul 11;93(1):110-7. [Content Brief]
[13]. Yusuf K Durlu, et al. Novel recessive cone-rod dystrophy caused by POC1B mutation. JAMA Ophthalmol. 2014 Oct;132(10):1185-91. [Content Brief]
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