Amaurosis congenita of Leber, type 4
Leber congenital amaurosis type 4
Leber congenital amaurosis 4 (LCA4) is 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 4 is distinguished from the other forms of this condition by the genetic origin of the defect - chromosome 17p13.1, AIPL1 gene.
- Retinal dysfunction
- Sensitivity to light
- Impaired vision
- Slow pupil response