loading...| Preferred Name |
Cone rod dystrophy |
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| Synonyms |
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| Definitions |
A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_1872 |
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| definition |
A rare genetic isolated inherited retinal disorder characterized by primary cone degeneration with significant secondary rod involvement, with a variable fundus appearance. Typical presentation includes decreased visual acuity, central scotoma, photophobia, color vision alteration, followed by night blindness and loss of peripheral visual field. |
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| definition_citation |
Orphanet |
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| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1872 |
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| has_age_of_onset |
Adolescent Adult Childhood |
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| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant |
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| hasDbXref |
OMIM:613660 ICD-10:H35.5 OMIM:304020 OMIM:619531 OMIM:615860 OMIM:600977 OMIM:615973 OMIM:612775 OMIM:610381 OMIM:605549 OMIM:601777 OMIM:610283 OMIM:300476 OMIM:604116 OMIM:602093 OMIM:120970 UMLS:C4085590 OMIM:300834 OMIM:608194 ICD-11:9B70 OMIM:615374 OMIM:303700 MedDRA:10085521 OMIM:615163 MeSH:D000071700 OMIM:618555 OMIM:603649 OMIM:614500 OMIM:604393 OMIM:600624 OMIM:610478 OMIM:612657 OMIM:616502 |
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| label |
Cone rod dystrophy |
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| notation |
ORPHA:1872 |
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| part_of |
http://www.orpha.net/ORDO/Orphanet_156174 |
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| prefixIRI |
ORDO:Orphanet_1872 |
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| prefLabel |
Cone rod dystrophy |
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| present_in |
Europe AND has_point_prevalence_average_value : 2.5 AND has_point_prevalence_range : 1-9 / 100 000 |
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| treeView |
http://www.orpha.net/ORDO/Orphanet_156174 |
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| subClassOf |