Results 21 to 30 of about 62,782 (280)

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

Genetic analysis for two italian siblings with usher syndrome and schizophrenia. [PDF]

open access: yes, 2012
Usher syndrome is a group of autosomal recessive genetic disorders characterized by deafness, retinitis pigmentosa, and sometimes vestibular areflexia.
Article Id   +5 more
core   +3 more sources

Unilateral retinitis pigmentosa [PDF]

open access: yesClinical and Experimental Optometry, 2010
Retinitis pigmentosa is a group of hereditary disorders, the common feature of which is a progressive deterioration in vision due to degeneration of the retina.
Ajit, Thakur, Lila, Puri
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

Atypical Retinitis Pigmentosa With Macular Sparing in a Patient With Compound Heterozygous <i>ABCA4</i> Variants: A Case Report and Diagnostic Challenge. [PDF]

open access: yesClin Case Rep
ABSTRACT Inherited retinal dystrophies are a complex group of disorders causing progressive vision loss. The ABCA4 gene is associated with a wide spectrum of retinopathies, most commonly Stargardt disease, which is characterized by central macular degeneration.
Li N, Dang Y.
europepmc   +2 more sources

Therapeutic potential of co-enzyme Q10 in retinal diseases [PDF]

open access: yes, 2017
Coenzyme Q10 (CoQ10) plays a critical role in mitochondrial oxidative phosphorylation by serving as an electron carrier in the respiratory electron transport chain.
Marcheggiani, Fabio   +6 more
core   +1 more source

Occult macular dystrophy in an Italian family carrying a mutation in the RP1L1 gene. [PDF]

open access: yes, 2016
Occult macular dystrophy (OMD) is an inherited macular disease characterized by progressive visual decline with the absence of visible retinal abnormalities. Typical alterations of the retinal structure are detectable by spectral domain optical coherence
Colavito, Davide   +4 more
core   +1 more source

Unilateral retinitis pigmentosa

open access: yesNepalese Journal of Ophthalmology, 2015
Objective: To report a rare case of unilateral retinitis pigmentosa and to present the clinical features, and ¿ndings of multifocal ERG and visual field of this case.Case: A 70-year-old-female diagnosed as Retinitis Pigmentosa in right eye 7 years back, presented with further gradual painless diminution of vision in the very eye and without any similar
Bhattarai, D.   +4 more
openaire   +4 more sources

Widening use of dexamethasone implant for the treatment of macular edema [PDF]

open access: yes, 2017
Sustained-release intravitreal 0.7 mg dexamethasone (DEX) implant is approved in Europe for the treatment of macular edema related to diabetic retinopathy, branch retinal vein occlusion, central retinal vein occlusion, and non-infectious uveitis.
Avitabile T.   +9 more
core   +2 more sources

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