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.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
Disorders of the eyeball posterior segment
Disorders of the retina
9B70 Inherited retinal dystrophies
H00481 Cone-rod dystrophy and cone dystrophy
Pathway-based classification of diseases [BR:br08402]
Signal transduction
nt06528 Calcium signaling
H00481 Cone-rod dystrophy and cone dystrophy
Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI
Title
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG, Bhattacharya SS, Moore AT, Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V
Title
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.
El-Asrag ME, Sergouniotis PI, McKibbin M, Plagnol V, Sheridan E, Waseem N, Abdelhamed Z, McKeefry D, Van Schil K, Poulter JA, Johnson CA, Carr IM, Leroy BP, De Baere E, Inglehearn CF, Webster AR, Toomes C, Ali M
Title
Biallelic mutations in the autophagy regulator DRAM2 cause retinal dystrophy with early macular involvement.
Bertrand RE, Wang J, Xiong KH, Thangavel C, Qian X, Ba-Abbad R, Liang Q, Simoes RT, Sampaio SAM, Carss KJ, Lucy Raymond F, Robson AG, Webster AR, Arno G, Porto FBO, Chen R
Title
Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.
Wissinger B, Schaich S, Baumann B, Bonin M, Jagle H, Friedburg C, Varsanyi B, Hoyng CB, Dollfus H, Heckenlively JR, Rosenberg T, Rudolph G, Kellner U, Salati R, Plomp A, De Baere E, Andrassi-Darida M, Sauer A, Wolf C, Zobor D, Bernd A, Leroy BP, Enyedi P, Cremers FP, Lorenz B, Zrenner E, Kohl S
Title
Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response.
