Results 21 to 30 of about 30,772 (202)
A rare case of senior loken syndrome
Senior Loken syndrome is a rare autosomal recessive genetic disorder. This syndrome mainly targets kidney and eye. Nephronophthisis, a chronic kidney disorder, is the common renal manifestation of this syndrome.
Jaisingh Ramapriyadharshini +2 more
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Introduction Retinitis pigmentosa is clinically characterized by loss of predominantly rod photoreceptor function as well as loss of peripheral vision.
Tsai Frank F, Igbre Ann O, Najjar Dany M
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Background Retinitis pigmentosa is a group of rare hereditary retinal dystrophy diseases that lead to difficulty seeing at night, progressive loss of peripheral field vision (tunnel vision), and eventual loss of central vision.
Yi-shuang Xiao +5 more
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Retinal Hemodynamics in Retinitis Pigmentosa
To investigate the retinal hemodynamic changes occurring in patients with retinitis pigmentosa (RP).Bidirectional laser Doppler velocimetry and monochromatic fundus photography were used to determine retinal venous diameter (D), maximum erythrocyte velocity (Vmax), and volumetric blood flow (Q) in the major retinal veins of eight patients with RP and ...
J E, Grunwald, A M, Maguire, J, Dupont
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A Journey towards Improved Quality of Life of a Typist with Retinitis Pigmintosa
: Retinitis pigmentosa (RP) is a group of inherited rod-cone degenerative pathologies that present clinically with similar signs and symptoms. Common fundus findings include bone-spicule pigment formation, attenuated blood vessels in the posterior pole ...
Malab Sana Balouch +2 more
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Retinitis pigmentosa and deafness [PDF]
Seventeen patients with retinitis pigmentosa (RP) have been investigated audiologically. Of 9 found to have a significant hearing loss, 6 were examples of Usher's syndrome; these patients had a cochlear pattern of hearing loss. The other 3 were examples of Senior's syndrome, Kearne-Sayre syndrome and Lawrence-Moon-Biedle syndrome respectively.
R P, Mills, D M, Calver
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Background To explore the molecular genetic cause of a four-generation autosomal dominant retinitis pigmentosa family in China. Methods Targeted region sequencing was performed to detect the potential mutation, and Sanger sequencing was used to validate ...
Wei Liu, Ruru Guo, Huijie Hao, Jian Ji
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INVESTIGATION OF RETINITIS PIGMENTOSA [PDF]
AbstractRetinitis pigmentosa is a solitary manifestation o1 separate genetically determined disorders in which there is progressive loss of vision and the appearance of characteristic fundus abnormalities. It is likely that each disease contained within this family of disorders has a different aetiology, a consideration which is important to the ...
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Aim: To describe a rare case of Vogt's limbal girdle in a boy with retinitis pigmentosa. Methods: A 13-year-old boy from India presented to us with progressive diminution of vision and nyctalopia for 5 years.
A.P. Vignesh +3 more
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Long-Term Visual Field Progression in X-Linked Retinitis Pigmentosa Patients
We present an image that illustrates long-term visual field progression in patients with X-linked retinitis pigmentosa (XLRP) due to the retinitis pigmentosa GTPase regulator (RPGR) and retinitis pigmentosa 2 protein (RP2) gene variants.
Alvilda Hemmingsen Steensberg +5 more
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