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Details of PRPF3 gene in Homo sapiens
Disease |
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| Disease |
OMIM id |
| Retinitis pigmentosa 18 (RP18) [MIM:601414]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. Note=The disease is caused by mutations affecting the gene represented in this entry. |
601414 |
Phenotypes
Abnormality of retinal arteries, Abnormality of the cardiovascular system, Abnormality of the eye, Abnormality of the fundus, Abnormality of the posterior segment of the eye, Abnormality of the retina, Abnormality of the retinal vasculature, Abnormality of the systemic arterial tree, Abnormality of the vasculature, Abnormality of the vasculature of the eye, Abnormality of vision, All, Autosomal dominant inheritance, Mode of inheritance, Night blindness, Phenotypic abnormality, Progressive visual field defects, Retinal arteriolar constriction, Scotoma, Visual field defect.
Orthologs in other species |
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| M. musculus |
D. melonogaster |
C. elegans |
S. purpuratus |
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