Cone-rod dystrophy and cone dystrophy

Definition:

Cone-rod dystrophy (CORD) and cone dystrophy (COD) are a subgroup of inherited retinal dystrophies characterized by progressive loss of photoreceptor function. In contrast to retinitis pigmentosa (RP), deterioration of the cone cells is more severe than the rod cells. In CORD, there is a progressive loss of cone photoreceptor function followed by gradual loss of rod photoreceptor function and retinal degeneration. In COD, cone function decreases progressively from its onset, though rod function is well preserved until the late stages of the disease.

References:

[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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