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Congenital stationary night blindness
Disease 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.
ORPHA:215
- Synonym(s):
- Congenital essential nyctalopia
- Prevalence: Unknown
- Inheritance: Autosomal dominant or Autosomal recessive or X-linked recessive
- Age of onset: Neonatal
- ICD-10: H53.6
- OMIM: 163500 257270 300071 310500 610427 610444 610445 613216 613830 614565 615058 616389 617024
- UMLS: C0339535
- MeSH: C536122
- GARD: 3995
- MedDRA: -
Detailed information
Article for general public
Professionals
- Summary information
- Polski (2014, pdf)
- Clinical practice guidelines
- Español (2017, pdf)
- Clinical genetics review
- English (2012)
Additional information
Further information on this disease
Health care resources for this disease
Research activities on this disease
Specialised Social Services
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.