Leber congenital amaurosis 4

Synonyms

2

Overview

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.

Symptoms

• Retinal dysfunction
• Nystagmus
• Blindness
• Sensitivity to light
• Impaired vision
• Slow pupil response