Maternal Uniparental Isodisomy of Chromosome 4 and 8 in Patients with Retinal Dystrophy: SRD5A3 -Congenital Disorders of Glycosylation and RP1 -Related Retinitis Pigmentosa.

Nobutaka TachibanaKatsuhiro HosonoShuhei NomuraShinji AraiKaoruko ToriiKentaro KurataMiho SatoShuichi ShimakawaNoriyuki AzumaTsutomu OgataYoshinao WadaNobuhiko OkamotoHirotomo SaitsuSachiko NishinaYoshihiro Hotta

Published in: Genes (2022)

There have been limited reports of retinal dystrophy caused by UPD, suggesting that it is rare. Genetic counseling may be encouraged in pediatric cases of retinal dystrophy.

Keyphrases

optical coherence tomography
diabetic retinopathy
early onset
optic nerve
copy number
smoking cessation
emergency department
birth weight
dna methylation
physical activity
body mass index
adverse drug
human immunodeficiency virus
hiv infected
weight loss
antiretroviral therapy
electronic health record
weight gain