Cone-rod dystrophy
Última actualización 18 Aug 2020
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Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
Descripción
Cone-rod dystrophy is a group of related eye disorders that causes vision loss, which becomes more severe over time. These disorders affect the retina, which is the layer of light-sensitive tissue at the back of the eye. In people with cone-rod dystrophy, vision loss occurs as the light-sensing cells of the retina gradually deteriorate.
The first signs and symptoms of cone-rod dystrophy, which often occur in childhood, are usually decreased sharpness of vision (visual acuity) and increased sensitivity to light (photophobia). These features are typically followed by impaired colour vision (dyschromatopsia), blind spots (scotomas) in the center of the visual field, and partial side (peripheral) vision loss. Over time, affected individuals develop night blindness and a worsening of their peripheral vision, which can limit independent mobility. Decreasing visual acuity makes reading increasingly difficult and most affected individuals are legally blind by mid-adulthood. As the condition progresses, individuals may develop involuntary eye movements (nystagmus).
There are more than 30 types of cone-rod dystrophy, which are distinguished by their genetic cause and their pattern of inheritance: autosomal recessive, autosomal dominant, and X-linked. Additionally, cone-rod dystrophy can occur alone without any other signs and symptoms or it can occur as part of a syndrome that affects multiple parts of the body.
Patrones de herencia
The source lists the following possible inheritance patterns: Autosomal dominant; X-linked recessive; Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Otros nombres
Cone-rod degeneration
Cone-rod retinal dystrophy
CORD
CRD
Retinal cone-rod dystrophy
Tapetoretinal degeneration
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Problemas visuales
This is the part of the retina that is the most densely packed with rods and cones, which are the cells that help with "seeing". There is currently no treatment which stops the progres... Retinal dystrophy Retinal dystrophies are a group of inherited (genetic) disorders which result in changes to the retina cuál may affect vision. They are fairly.
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Problemas oculares
Distrofias corneales These are a grupo of progressive conditions which cause a build-up of cloudy material in the cornea. Retinal detachment (RD) The retina is made up of two layers: an inner layer of light-sensitive 'seeing cells' (called rods y cones) and an outer layer of pigmented cells cuál nourish and support them. Retinal dystrophy.
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Degeneración macular
Degeneración macular relacionada con la edad is the most common causa de sight impairment in those aged over 50. It causes a gradual loss of central vision, which is needed for detailed work and for things like reading and driving. Macular degeneration (also known as age-related macular degeneration) occurs when cells in the macula - the central area of the.
Lecturas adicionales y referencias
- Cone-rod dystrophy; MedlinePlus, National Library of Medicine.
- Boulanger-Scemama E, El Shamieh S, Demontant V, Condroyer C, Antonio A, Michiels C, Boyard F, Saraiva JP, Letexier M, Souied E, Mohand-Said S, Sahel JA, Zeitz C, Audo I. Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation. Orphanet J Rare Dis. 2015 Jun 24;10:85. doi: 10.1186/s13023-015-0300-3.
- Hamel CP. Cone rod dystrophies. Orphanet J Rare Dis. 2007 Feb 1;2:7. doi: 10.1186/1750-1172-2-7.
- Huang L, Li S, Xiao X, Jia X, Wang P, Guo X, Zhang Q. Screening for variants in 20 genes in 130 unrelated patients with cone-rod dystrophy. Mol Med Rep. 2013 Jun;7(6):1779-85. doi: 10.3892/mmr.2013.1415. Epub 2013 Apr 5.
- Huang L, Zhang Q, Li S, Guan L, Xiao X, Zhang J, Jia X, Sun W, Zhu Z, Gao Y, Yin Y, Wang P, Guo X, Wang J, Zhang Q. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes. PLoS One. 2013 Jun 11;8(6):e65546. doi: 10.1371/journal.pone.0065546. Print 2013.
- Roosing S, Thiadens AA, Hoyng CB, Klaver CC, den Hollander AI, Cremers FP. Causes and consequences of inherited cone disorders. Prog Retin Eye Res. 2014 Sep;42:1-26. doi: 10.1016/j.preteyeres.2014.05.001. Epub 2014 May 22.
- Sergouniotis PI, McKibbin M, Robson AG, Bolz HJ, De Baere E, Muller PL, Heller R, El-Asrag ME, Van Schil K, Plagnol V, Toomes C; Uk Inherited Retinal Disease Consortium; Ali M, Holder GE, Charbel Issa P, Leroy BP, Inglehearn CF, Webster AR. Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene. Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8083-90. doi: 10.1167/iovs.15-17604.
- Thiadens AA, Phan TM, Zekveld-Vroon RC, Leroy BP, van den Born LI, Hoyng CB, Klaver CC; Writing Committee for the Cone Disorders Study Group Consortium; Roosing S, Pott JW, van Schooneveld MJ, van Moll-Ramirez N, van Genderen MM, Boon CJ, den Hollander AI, Bergen AA, De Baere E, Cremers FP, Lotery AJ. Clinical course, genetic etiology, and visual outcome in cone and cone-rod dystrophy. Ophthalmology. 2012 Apr;119(4):819-26. doi: 10.1016/j.ophtha.2011.10.011. Epub 2012 Jan 20.
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