Leber congenital amaurosis 1
Synonyms
Amaurosis congenita of Leber, type 1
Retinal blindness, congenital CRB
Leber congenital amaurosis type 1
Overview
A rare inherited retinal disease (retinal dystrophy) that starts during the fetal stage. Vision impairment is obvious at birth or within months of birth. Type I is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, RETGC1 gene.
Symptoms
- Retinal dysfunction
- Nystagmus
- Poking own eyes
- Blindness
- Sensitivity to light
Causes
- Trauma
- Multiple sclerosis
- Congenital
- Vertigo
- Acute labyrinthitis
- Medications
- Stroke