Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report.

Mehdi TavakoliAmy M HuangLinda Cernichiaro-EspinosaCarlos E Mendoza SantiestebanAudina Maria Berrocal

Published in: Journal of vitreoretinal diseases (2020)

The clinical presentation of Coats-like reaction in Leber congenital amaurosis can be associated with sequence variants in certain genes. The presence of multiple gene sequence variants in this patient may have contributed to the severity of disease.

Keyphrases

copy number
genome wide
dna methylation
genome wide identification
amino acid
transcription factor
gene expression