A novel KCNV2 mutation in a patient taking hydroxychloroquine associated with cone dystrophy with supernormal rod response.

Pei-Kang LiuJoseph RyuLung-Kun YehKuan-Jen ChenStephen H TsangLaura LiuNan-Kai Wang

Published in: Ophthalmic genetics (2021)

We report a novel KCNV2 mutation in a consanguineous family. The unique ffERG features of CDSRR are pathognomonic and thus crucial in guiding clinicians toward genetic testing of the KCNV2 gene. Altogether, multimodal imaging, ffERG, and detailed history taking are important diagnostic tools for differentiating between acquired and inherited retinal disorders.

Keyphrases

high resolution
optical coherence tomography
case report
palliative care
diabetic retinopathy
genome wide
early onset
copy number
pain management
magnetic resonance imaging
gene expression
photodynamic therapy