Results 21 to 30 of about 29,474 (200)

Subfoveal intrachoroidal cavitation secondary to full-thickness macular hole in a case of retinitis pigmentosa

open access: yesIndian Journal of Ophthalmology. Case Reports, 2021
We report a rare case of subfoveal intrachoroidal cavitation secondary to full-thickness macular hole in case of retinitis pigmentosa. Intrachoroidal cavitation was typically described in myopic eyes in peripapillary region and North Carolina macular ...
Pradeep G Tekade, Neha Namdeo
doaj   +1 more source

A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

open access: yesCommunications Biology, 2021
Koji Nishiguchi et al. identify three genetic variants within the EYS gene that are associated with retinitis pigmentosa using a genome-wide association study.
Koji M. Nishiguchi   +24 more
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

Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier   +6 more
wiley   +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

Cyclic Olefin Copolymers as Versatile Materials for Advanced Engineering Applications

open access: yesAdvanced Functional Materials, EarlyView.
Cyclic olefin copolymers (COCs) are presented as highly versatile materials combining tunable synthesis, excellent optical properties, and mechanical robustness. Their potential spans microfluidics, bioengineering, and advanced electronics, while emerging self‐healing and sustainable solutions highlight future opportunities.
Giulia Fredi   +3 more
wiley   +1 more source

Bilateral Intravitreal Dexamethasone Implant for Retinitis Pigmentosa-Related Macular Edema

open access: yesCase Reports in Ophthalmology, 2013
Purpose: To report the efficacy of intravitreal dexamethasone implant in a patient with retinitis pigmentosa and bilateral cystoid macular edema unresponsive to topical carbonic anhydrase inhibitors.
Ali Osman Saatci   +3 more
doaj   +1 more source

Retinitis pigmentosa and schizophrenia

open access: yesEuropean Psychiatry, 1998
SummaryThere have been previous suggestions in the literature of a link between schizophrenia and retinitis pigmentosa (RP) or its associated syndromes. In this article, we describe two cases of schizophrenía and two cases of delusional disorder occurring in patients with RP.
C, McDonald, P, Kenna, T, Larkin
openaire   +2 more sources

Aptamer‐Based Delivery Systems for VEGF and NGF Modulation in Ocular Therapies

open access: yesAdvanced Healthcare Materials, EarlyView.
Aptamer‐based delivery systems targeting NGF and VEGF hold significant potential for precise and sustained treatment of complex diseases affecting both the anterior and posterior segments of the eye. This review critically summarizes current strategies for NGF and VEGF delivery as well as VEGF sequestration, providing a clinical perspective on how ...
Nadine Best   +5 more
wiley   +1 more source

Long-term safety of human retinal progenitor cell transplantation in retinitis pigmentosa patients

open access: yesStem Cell Research & Therapy, 2017
Background Retinitis pigmentosa is a common genetic disease that causes retinal degeneration and blindness for which there is currently no curable treatment available.
Yong Liu   +8 more
doaj   +1 more source

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