Orphanet: Congenital stationary night blindness

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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

Classification level: Disorder

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

General public

Article for general public
Español (2016) - GuíaSalud

Guidelines

Clinical practice guidelines
Español (2017, pdf) - Ministerio de Sanidad

Disease review articles

Clinical genetics review
English (2019) - GeneReviews

: produced/endorsed by ERN(s)
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Congenital stationary night blindness

ORPHA:215

A summary on this disease is available in Deutsch (2017) Español (2017) Français (2017) Italiano (2017) Nederlands (2017) Polski (2014, pdf)

General public

Guidelines

Disease review articles

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services