eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | cone rod dystrophy |
| Symptom | C0456909|vision loss |
| Sentences | 12 |
| PubMedID- 26059674 | A continuous decline in consanguineous marriages among the jewish and arab populations in israel may have contributed to the decrease in the rate of vision loss due to retinitis pigmentosa in children. |
| PubMedID- 21940737 | Background: recessive mutant alleles of myo7a, ush1c, cdh23, and pcdh15 cause non-syndromic deafness or type 1 usher syndrome (ush1) characterised by deafness, vestibular areflexia, and vision loss due to retinitis pigmentosa. |
| PubMedID- 25889597 | Deficits manifest as sensorineural hearing loss that typically develops at a young age and retinitis pigmentosa that can lead to peripheral vision loss and night blindness. |
| PubMedID- 19741248 | Purpose: vision loss due to retinitis pigmentosa affects an estimated 15 million people worldwide. |
| PubMedID- 25015354 | We recently assessed efficacy of high-dose dha supplementation to slow vision loss in patients with x-linked retinitis pigmentosa (xlrp) in a randomized clinical trial. |
| PubMedID- 20616678 | Background: retinal diseases such as age-related macular degeneration and retinitis pigmentosa remain major causes of severe vision loss in humans. |
| PubMedID- 23991031 | Ush1b is one of the most severe forms of ush that leads to severe congenital hearing impairment and progressive vision loss due to retinitis pigmentosa that manifests pre-pubertally 1. |
| PubMedID- 21054389 | These data suggest that correlation of serum bilirubin levels with rate of vision loss in patients with retinitis pigmentosa could provide a useful strategy to test the hypothesis that cones die from oxidative damage in patients with retinitis pigmentosa. |
| PubMedID- 25695052 | It is found that mutations in the mt-atp6 gene result in neuropathy, ataxia, and retinitis pigmentosa, which lead to muscle weakness, vision loss, and the other features. |
| PubMedID- 22449032 | The hearing loss is sensorineural, whereas the vision loss is associated with retinitis pigmentosa (rp), a degeneration of the retinal cells. |
| PubMedID- 26469750 | Purpose: docosahexaenoic acid (dha) was supplemented in a single-site, placebo-controlled, randomized clinical trial designed to slow vision loss associated with x-linked retinitis pigmentosa (xlrp); the dhax trial. |
| PubMedID- 20591747 | Background: vision loss in retinitis pigmentosa (rp) is a slowly progressive and inexorable threat to patients' independence. |
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