Generation of two human iPSC lines from patients with autosomal dominant retinitis pigmentosa (UCLi014-A) and autosomal recessive Leber congenital amaurosis (UCLi015-A) associated with RDH12 variants.
This study includes the largest collection of phenotypic data from children with RDH12-associated early-onset severe retinal dystrophy (EOSRD) and provides a comprehensive description of the timeline of vision loss in this severe early-onset condition.
RDH12-IRD causes an early-onset retina-wide disease with particularly severe central retinal abnormalities associated with relatively less severe rod photoreceptor dysfunction a pattern consistent with an early-onset cone-rod dystrophy.
The mutation detection of RDH12 in this study also implies that whole exome sequencing is a useful method for detection of potential mutations in small families with atypical clinical manifestations of genetic disease.
We report 4 children from 3 consanguineous families with bilateral elevation deficiency in the context of retinal dystrophy. All were found to harbor recessive mutations in retinal dehydrogenase 12 (RDH12).
The three patients with Leber congenital amaurosis/early-onset retinal dystrophy had a progressive decrease of their vision with the formation of a posterior staphyloma.
Here we demonstrate that microtubule-associated protein 1 light chain 3A (LC3A) a marker of autophagy is related to hypoxia and poor prognosis in clear cell ovarian cancer.
Seventeen novel mutations in the RDH12 gene were identified that accounted for approximately 7% of disease in a cohort of patients diagnosed with Leber congenital amaurosis and early-onset retinal dystrophy.
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