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Cone-Rod Dystrophy

What is Cone-Rod Dystrophy?

Cone-Rod Dystrophy is an inherited disorder characterized by the loss of cone cells, which are responsible for both central and color vision.

 

Cone-Rod Dystrophy is an inherited disorder characterized by the loss of cone cells, which are responsible for both central and color vision.
Acknowledgement of Cone-Rod Dystrophy has not been added yet.
2.5http://www.orpha.net
Synonyms for Cone-Rod Dystrophy has not been added yet.
The majority of cone-rod dystrophy cases due to mutations in any one of several genes, and CRDs can be inherited as autosomal recessive, autosomal dominant, X-linked or mitochondrial (maternally-inherited) traits. CRDs are usually non-syndromic, but they may also be part of several syndromes (https://rarediseases.info.nih.gov/gard/).
Initial signs and symptoms typically include decreased visual acuity when looking straight ahead (central vision loss) and loss of color perception; and an abnormal sensitivity to light (photophobia). These signs are usually followed by progressive loss of peripheral vision and night blindness. This is followed by a wide-range of possible symptoms: abnormalities in the eyes/ears, intellectual disability, blindness, retinal flecks and central scotoma (https://rarediseases.info.nih.gov/gard/).
Clinical diagnosis is based on the early decrease of visual acuity and photophobia, lesions in fundus, hypovolted ERG traces with predominant cone involvement, and progressive worsening of these signs. Full field ERG is the key test. At present, a systematic molecular testing is not routinely performed, due to the tremendous genetic heterogeneity of the disease. However, rapid and large-scale mutation screening techniques are developing and several laboratories perform search for mutations in the most frequently involved genes, includingABCA4, CRX, GUC1A; strategies to test in a short time several dozen of genes for a single patient DNA are emerging. Differential diagnoses are: Retinitis pigmentosa, Leber congenital amaurosis (LCA), Maculopathies ans Stationary retinal diseases (http://www.ncbi.nlm.nih.gov/pubmed).
Diagnostic tests of Cone-Rod Dystrophy has not been added yet
There are currently no specific therapies or treatments that can stop the progression of cone-rod dystrophy or restore vision, however there are ways to manage the disease. Light avoidance and low-vision aids may help to slow down the degenerative process (https://rarediseases.info.nih.gov/gard/). The beta-carotenoids, lutein and zeaxanthin, have been evidenced to reduce the risk of developing age related macular degeneration (AMD). Consuming omega-3 fatty acids (docosahexaenoic acid and eicosapentaenoic acid) has been correlated with a reduced progression of early AMD, and in conjunction with low glycemic index foods, with reduced progression of advanced AMD (https://en.wikipedia.org/wiki/Main_Page). Finally, it is also important for patients to receive support to help them cope with the social and psychological impact of vision loss (https://rarediseases.info.nih.gov/gard/).
Prognosis of Cone-Rod Dystrophy has not been added yet.
Tips or Suggestions of Cone-Rod Dystrophy has not been added yet.
References of Cone-Rod Dystrophy has not been added yet.
Living with Created by Kimjar
Last updated 26 Feb 2014, 09:30 PM

Posted by Kimjar
26 Feb 2014, 09:30 PM

I am a mother of an 18 year old who has been diagnosed with Cone Dystrophy....is there anyone who has come up with some way of dealing with the day to days...special glasses or something?

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Created by Kimjar | Last updated 26 Feb 2014, 09:30 PM


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