Presentation
A number of other conditions and syndromes may present with infantile glaucoma, along with other ocular and/or systemic findings. [centogene.com]
Mild dyschromatopsia is present in some patients but this is primarily a disease of rods. Systemic Features: No systemic disease is associated with congenital stationary night blindness. [disorders.eyes.arizona.edu]
Mild to moderate near-sightedness is also almost always present. This is a non-progressive disorder with a range of severity. Visual acuity is usually in the range of 20/30 to 20/60. [wohproject.org]
Acronym CSNB1A Synonyms Complete X-linked CSNB Congenital stationary night blindness with myopia Hemeralopia-myopia Nyctalopia XLCSNB X-linked congenital stationary night blindness Keywords Any medical or genetic information present in this entry is provided [uniprot.org]
The mutation was not present in100 control alleles.Despite the atypical features of fundus and visualfields, he was diagnosed as having iCSNB because of theERG changes and the CACNA1F mutation. [docslide.com.br]
Eyes
- Visual Acuity Decreased
acuity Decreased clarity of vision 0007663 5%-29% of people have these symptoms Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Percent of people who have these symptoms is not available [rarediseases.info.nih.gov]
Treatment
Treatment: Beyond correction for myopia, no treatment is available. Prognosis: Excellent with correction of refractive error. Ancillary treatments and support: Vision training, vocational rehabilitation. [wohproject.org]
Treatment Treatment Options: No treatment beyond correction of the refractive error is available but tinted lenses are sometimes used to enhance vision. [disorders.eyes.arizona.edu]
You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]
It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]
Prognosis
Prognosis: Excellent with correction of refractive error. Ancillary treatments and support: Vision training, vocational rehabilitation. Specialists and specialty centers: Ophthalmologist, low vision specialist. [wohproject.org]
Epidemiology
Relevant External Links for NYX Genetic Association Database (GAD) NYX Human Genome Epidemiology (HuGE) Navigator NYX Atlas of Genetics and Cytogenetics in Oncology and Haematology: NYX No data available for Genatlas for NYX Gene Mutations in NYX, encoding [genecards.org]