ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy
Sign Up to like & getrecommendations! Published in 2020 at "Human Genetics"
DOI: 10.1007/s00439-020-02182-y
Abstract: Cone-rod dystrophy (CORD) is an inherited retinal degenerative disease characterized by progressive loss of cone and rod photoreceptors. Although several genes have been reported to cause autosomal dominant CORD (adCORD), the genetic causes of adCORD… read more here.
Keywords: cause; rod dystrophy; cone rod; cone ... See more keywords
Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies
Sign Up to like & getrecommendations! Published in 2019 at "Scientific Reports"
DOI: 10.1038/s41598-019-52660-1
Abstract: GUCA1A gene variants are associated with autosomal dominant (AD) cone dystrophy (COD) and cone-rod dystrophy (CORD). GUCA1A-associated AD-COD/CORD has never been reported in the Japanese population. The purpose of this study was to investigate clinical… read more here.
Keywords: guca1a associated; rod dystrophy; dominant cone; cone rod ... See more keywords
Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1622023
Abstract: ABSTRACT Purpose: Cone-rod dystrophy (CRD) is an inherited retinal dystrophy that is transmitted via different modes of inheritance. Mutations in more than 30 genes have been identified to cause the disease. We aimed to investigate… read more here.
Keywords: dystrophy; rod dystrophy; form; crx gene ... See more keywords
Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy
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DOI: 10.3390/ijms22126410
Abstract: Variants of the TTLL5 gene, which encodes tubulin tyrosine ligase-like family member five, are a rare cause of cone dystrophy (COD) or cone-rod dystrophy (CORD). To date, only a few TTLL5 patients have been clinically… read more here.
Keywords: dystrophy; rod dystrophy; cod cord; cone rod ... See more keywords
Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography
Sign Up to like & getrecommendations! Published in 2021 at "Taiwan Journal of Ophthalmology"
DOI: 10.4103/tjo.tjo_54_20
Abstract: Cone–rod dystrophy (CORD) is a type of progressive hereditary retinal dystrophies that causes cone predominant photoreceptor degeneration characterized by wide genotypic and phenotypic heterogeneity. Macular cyst (MC) occurs very infrequently in the pediatric age group… read more here.
Keywords: macular cyst; serial spectral; abca4 mutation; rod dystrophy ... See more keywords