Clinical and molecular characterization of non-syndromic retinal dystrophy due to c.175G>A mutation in ceroid lipofuscinosis neuronal 3 (CLN3).

Fred K ChenXiao ZhangJonathan EintrachtDan ZhangSukanya ArunachalamJennifer A ThompsonEnid ChelvaDominic MallonShang-Chih ChenTerri McLarenTina LameyJohn De RoachSamuel McLenachan

Published in: Documenta ophthalmologica. Advances in ophthalmology (2018)

Our case study shows that (1) non-syndromic CLN3 disease leads to rod and delayed primary cone degeneration resulting in constricting peripheral field and enlarging central scotoma and, (2) the c.175G>A CLN3 mutation, altered splicing of the CLN3 gene. Overall, we provide comprehensive clinical characterization of a patient with non-syndromic CLN3 disease.

Keyphrases

intellectual disability
autism spectrum disorder
optical coherence tomography
case report
genome wide
copy number
gene expression
blood brain barrier
dna methylation
brain injury
subarachnoid hemorrhage