Results 21 to 30 of about 30,772 (202)

A rare case of senior loken syndrome

open access: yesTNOA Journal of Ophthalmic Science and Research, 2020
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
doaj   +1 more source

Late capsular bag contraction and intraocular lens subluxation in retinitis pigmentosa: a case report

open access: yesJournal of Medical Case Reports, 2011
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
doaj   +1 more source

Clinical and whole exome sequencing findings in children from Yunnan Yi minority ethnic group with retinitis pigmentosa: two case reports

open access: yesJournal of Medical Case Reports, 2023
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
doaj   +1 more source

Retinal Hemodynamics in Retinitis Pigmentosa

open access: yesAmerican Journal of Ophthalmology, 1996
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
openaire   +2 more sources

A Journey towards Improved Quality of Life of a Typist with Retinitis Pigmintosa

open access: yesAnnals of Abbasi Shaheed Hospital and Karachi Medical & Dental College, 2022
: 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
doaj   +1 more source

Retinitis pigmentosa and deafness [PDF]

open access: yesJournal of the Royal Society of Medicine, 1987
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
openaire   +2 more sources

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa

open access: yesBMC Ophthalmology, 2021
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
doaj   +1 more source

INVESTIGATION OF RETINITIS PIGMENTOSA [PDF]

open access: yesAustralian Journal of Opthalmology, 1982
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 ...
openaire   +2 more sources

A Case Report of Vogt's Limbal Girdle and Retinitis Pigmentosa in a Thirteen-Year-Old Boy: A Rare and Unusual Association

open access: yesCase Reports in Ophthalmology, 2015
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
doaj   +1 more source

Long-Term Visual Field Progression in X-Linked Retinitis Pigmentosa Patients

open access: yesDiagnostics
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
doaj   +1 more source

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