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Cone Rod Dystrophy 6, CORD6

Cone Rod Dystrophy 6, CORD6

OMIM number: 601777

Comments closing date: 06/03/2019

Cone rod dystrophies are characterised by poor central vision and an abnormal electroretinogram (ERG). Symptoms of the conditions include varying degrees of light sensitivity (photophobia), loss of clarity of vision (visual acuity), deficiency of colour vision, and central visual fields. In addition, it can cause involuntary eye movements (nystagmus) that may be present in early-onset disease.

The severity of the condition can vary even within the same family and the earlier the onset of symptoms the more severe the progression of the condition (Small and Gehrs 1996). The prevalence of cone rod dystrophies worldwide is 1 / 30,000-40,000 live births (Thiadens et al. 2012). It is caused by gene changes within the GUCY2D gene on chromosome 17p13 and it is inherited in an autosomal dominant pattern. This means that an affected individual has a 50% chance of having a child also affected with this condition in each pregnancy.

Review date: 6 February 2021