Congenital stationary night blindness 2A
- Synonyms
- CSNB, INCOMPLETE, X-LINKED; NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2; Night blindness, congenital stationary (incomplete), 2A, X-linked
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
29 tests are in the database for this condition.
Check Related conditions for additional relevant tests.
Clinical tests (29 available)
Clinical features
Help- Abnormality of the eye
- Abnormal amplitude of light-adapted flicker electroretinogram
Abnormal amplitude of light-adapted flicker electroretinogram
- MedGen UID: 893140
- Concept ID: C4072969
- Finding: Finding
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
- Electronegative electroretinogram
Electronegative electroretinogram
- MedGen UID: 867203
- Concept ID: C4021561
- Finding: Finding
Abnormality of the eye
- Exotropia
Exotropia
- MedGen UID: 4613
- Concept ID: C0015310
- Finding: Disease or Syndrome
Abnormality of the eye
- Nystagmus
Nystagmus
- MedGen UID: 45166
- Concept ID: C0028738
- Finding: Disease or Syndrome
Abnormality of the eye
- Reduced visual acuity
Reduced visual acuity
- MedGen UID: 65889
- Concept ID: C0234632
- Finding: Finding
Abnormality of the eye
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Abnormal amplitude of light-adapted flicker electroretinogram
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