Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.
Sign Up to like & getrecommendations! Published in 2023 at "Ophthalmic genetics"
DOI: 10.1080/13816810.2023.2215332
Abstract: BACKGROUND The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Løken syndrome. Detailed exams are warranted… read more here.
Keywords: cone photoreceptor; function; reduced cone; photoreceptor function ... See more keywords
Assessment of photoreceptor function with ultrafast retinal densitometry.
Sign Up to like & getrecommendations! Published in 2022 at "Biomedical optics express"
DOI: 10.1364/boe.472174
Abstract: The optical density of visual pigment can be measured by imaging the dark-adapted eye while bleaching with visible light. This measurement can be made for individual photoreceptor cells using adaptive optics; however, activation of the… read more here.
Keywords: ultrafast retinal; assessment photoreceptor; function ultrafast; photoreceptor function ... See more keywords