Congenital stationary night blindness 1A
- Synonyms
- CSNB, COMPLETE, X-LINKED; HEMERALOPIA-MYOPIA; MYOPIA-NIGHT BLINDNESS; NIGHT BLINDNESS, CONGENITAL STATIONARY, WITH MYOPIA; NYX-Related X-Linked Congenital Stationary Night Blindness; Night blindness, congenital stationary (complete), 1A, X-linked; Night blindness, congenital stationary, type 1
Summary
Excerpted from the GeneReview:X-linked congenital stationary night blindness (CSNB) is characterized by non-progressive retinal findings of reduced visual acuity ranging from 20/30 to 20/200; defective dark adaptation; refractive error, most typically myopia ranging from low (-0.25 diopters [D] to -4.75 D) to high (≥-10.00 D) but occasionally hyperopia; nystagmus; strabismus; normal color vision; and normal fundus examination. Characteristic ERG findings can help distinguish between complete X-linked CSNB and incomplete X-linked CSNB.
- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- References
- Chapter Notes
- Authors:
- Ian M MacDonald
- Stephanie Hoang
- Sari Tuupanen
- view full author information
Available tests
18 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (18 available)
Clinical features
Help- Abnormality of the eye
- Congenital stationary night blindness
Congenital stationary night blindness
- MedGen UID: 83289
- Concept ID: C0339535
- Finding: Congenital Abnormality
Abnormality of the eye
- Hemeralopia
Hemeralopia
- MedGen UID: 42391
- Concept ID: C0018975
- Finding: Disease or Syndrome
Abnormality of the eye
- High myopia
High myopia
- MedGen UID: 78759
- Concept ID: C0271183
- Finding: Disease or Syndrome
Abnormality of the eye
- Congenital stationary night blindness
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