loading...| Preferred Name | Congenital stationary night blindness | |
| Synonyms |
Congenital essential nyctalopia |
|
| Definitions |
Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities. |
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| ID |
http://www.orpha.net/ORDO/Orphanet_215 |
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| alternative_term |
Congenital essential nyctalopia |
|
| definition |
Congenital stationary night blindness (CSNB) refers to a non-progressive group of retinal disorders characterized by night or dim light vision disturbance or delayed dark adaptation, poor visual acuity (ranging from 20/30 to 20/200), myopia (ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D)), nystagmus, strabismus, normal color vision and fundus abnormalities. |
|
| definition_citation |
Orphanet |
|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=215 |
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| has_age_of_onset |
Neonatal |
|
| has_inheritance |
Autosomal recessive X-linked recessive Autosomal dominant |
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| hasDbXref |
ICD-10:H53.6 UMLS:C0339535 ICD-11:9D45 OMIM:257270 MeSH:C536122 OMIM:613830 OMIM:616389 OMIM:310500 OMIM:300071 OMIM:617024 OMIM:610444 OMIM:610445 OMIM:613216 OMIM:614565 OMIM:610427 OMIM:615058 OMIM:163500 |
|
| label |
Congenital stationary night blindness |
|
| notation |
ORPHA:215 |
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| part_of | ||
| prefixIRI |
ORDO:Orphanet_215 |
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| prefLabel |
Congenital stationary night blindness |
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| present_in |
Worldwide AND has_point_prevalence_range : Unknown |
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| treeView | ||
| subClassOf |