A new phenotype of syndromic retinitis pigmentosa with myopathy is caused by mutations in retinol dehydrogenase 11

2022 ◽  
Author(s):  
Yi‐Dan Liu ◽  
Shu‐Shu Huang ◽  
Mei Li ◽  
Monkol Lek ◽  
Dan‐Yu Song ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinol Dehydrogenase

scholarly journals New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

2014 ◽  
Vol 23 (21) ◽  
pp. 5774-5780 ◽  
Author(s):  
Yajing (Angela) Xie ◽  
Winston Lee ◽  
Carolyn Cai ◽  
Tomasz Gambin ◽  
Kalev Nõupuu ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Retinol Dehydrogenase ◽  
Nonsense Mutations

XRF and PIXE Analysis of light and Dark Adapted Ocular Tissue

1982 ◽  
Vol 40 ◽  
pp. 190-191
Author(s):  
B. J. Panessa ◽  
H. W. Kraner ◽  
J. B. Warren ◽  
K. W. Jones
Keyword(s):  
Trace Metals ◽  
Pigment Epithelium ◽  
Nerve Impulse ◽  
Light Response ◽  
Ocular Tissue ◽  
Emission Spectrometry ◽  
Retinol Dehydrogenase ◽  
Pixe Analysis ◽  
X Ray ◽  
Optimal Function

During photoexcitation the retina requires specific electrolytes and trace metals for optimal function (Na, Mg, Cl, K, Ca, S, P, Cu and Zn). According to Hagins (1981), photoexcitation and generation of a nerve impulse involves the movement of Ca from the rhodopsin-ladened membranes of the rod outer segment (ROS) to the plasmalemma, which in turn decreases the in-flow of Na into the photoreceptor, resulting in hyperpolarization. In toad isolated retinas, the presence of Ba has been found to increase the amplitude and prolong the delay of the light response (Brown and Flaming, 1978). Trace metals such as Cu, Zn and Se are essential for the activity of the metalloenzymes of the retina and retina pigment epithelium (RPE) (i.e. carbonic anhydrase, retinol dehydrogenase, tyrosinase, glutathione peroxidase, superoxide dismutase...). Therefore the content and fluctuations of these elements in the retina and choroid are of fundamental importance for the maintenance of vision. This paper presents elemental data from light and dark adapted frog ocular tissues examined by electron beam induced x-ray microanalysis, x-ray fluorescence spectrometry (XRF) and proton induced x-ray emission spectrometry (PIXE).

A Dermatoglyphics Study of Retinitis Pigmentosa– A Case Study

2012 ◽  
Vol 3 (5) ◽  
pp. 5-6
Author(s):  
Dr. Chandan Kumar Sinha ◽  
◽  
Amminabhavi Nazia Banu Nurahmad ◽  
Yogita Mallu Kattimani
Keyword(s):  
Retinitis Pigmentosa

Case of Unilateral retinitis pigmentosa

2014 ◽  
Vol 47 (1) ◽  
pp. 119-121
Author(s):  
A. Zborovskaya ◽  
◽  
A. Dorokhova ◽  
L. Uvarenko ◽  
A. Kurilyuk ◽  
...  
Keyword(s):  
Retinitis Pigmentosa
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