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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease cone rod dystrophy
Symptom C0456909|blindness
Sentences 9
PubMedID- 25957687 Because the secondary loss of cones in retinitis pigmentosa (rp) leads to blindness, the administration of rdcvf is a promising therapy for this untreatable neurodegenerative disease.
PubMedID- 21496228 This causes retinitis pigmentosa, which eventually leads to blindness in the affected individual .
PubMedID- 25915832 Retinal degenerative diseases such as age-related macular degeneration and retinitis pigmentosa lead to blindness due to gradual loss of photoreceptors, while the inner retinal neurons survive to a large extent1,2, albeit with some rewiring3,4.
PubMedID- 21920492 Autofluorescence imaging and spectral-domain optical coherence tomography in incomplete congenital stationary night blindness and comparison with retinitis pigmentosa.
PubMedID- 20142850 The retinitis pigmentosa (rp) debuted with night blindness at the age of 15 with a decreased visual acuity at the age of 20.
PubMedID- 25885848 Two english ophthalmologists, laurence and moon reported four cases of retinitis pigmentosa with marked night blindness and body changes of dwarfism, hypogenitalism and mental deficiency in 1866.
PubMedID- 24702847 The most common hereditary retinal degeneration, retinitis pigmentosa (rp), leads to blindness by degeneration of cone photoreceptors.
PubMedID- 20826782 Both cadherins are defective in usher syndrome type i (sensorineural deafness and blindness due to retinitis pigmentosa).
PubMedID- 24312285 Some hereditary diseases, such as retinitis pigmentosa, lead to blindness due to the death of photoreceptors, though the rest of the visual system might be only slightly affected.

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