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"Cone-rod" dystrophy 15
- ... Registry: Cone-rod dystrophy 13 Genetic Testing Registry: Cone-rod dystrophy 15 Genetic Testing Registry: Cone-rod dystrophy 16 Genetic Testing Registry: Cone-rod dystrophy 17 ...
- ... of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet A. 2007 Oct 15;143A(20):2444-7. doi: 10.1002/ajmg. ...
- ... in this gene are responsible for 10 to 15 percent of all cases of autosomal recessive retinitis pigmentosa. Changes in at least six genes are thought ...
- ... this condition have developed an eye disorder called retinitis pigmentosa that causes vision loss. Most people who have ataxia with vitamin E deficiency start to experience problems with movement between the ages of 5 and 15 years. The movement problems tend to worsen with ...
- ... retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or ... and other maculopathies. Hum Mutat. 2000;15(4):301-8. doi: 10.1002/(SICI)1098- ...
- ... night blindness, Stickler syndrome, Marfan syndrome, retinitis pigmentosa, cone-rod dystrophy, deafness and myopia syndrome, Knobloch syndrome, and Cohen ...
- ... Med Genet C Semin Med Genet. 2009 Nov 15;151C(4):281-95. doi: 10.1002/ajmg. ... Biedl syndrome. Curr Opin Genet Dev. 2005 Jun;15(3):315-23. doi: 10.1016/j.gde. ...
- ... disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive ... the retina gradually deteriorate. The first sign of retinitis pigmentosa is usually a loss of night vision, which ...
- ... can cause a condition called neuropathy, ataxia, and retinitis pigmentosa (NARP). NARP causes a variety of signs and ... have cognitive impairment and an eye disorder called retinitis pigmentosa that causes vision loss.A condition called Leigh ...
- ... psychiatric problems.A condition called HARP (hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration) syndrome, which was historically described ...