Skip to main content
3059 Suchergebnisse für:

Retinitis pigmentosa 

sortieren nach |
"Aktualität" sortiert die Ergebnisse nach Publikationsdatum. "Relevanz" berücksichtigt auch noch andere Faktoren wie zum Beispiel die Häufigkeit der Suchbegriffe im Text.
  1. Open Access 01.12.2024 | OriginalPaper

    The mechanistic functional landscape of retinitis pigmentosa: a machine learning-driven approach to therapeutic target discovery

    Retinitis pigmentosa (RP) is a rare hereditary disease that mainly affects the photoreceptors in the retina, resulting in progressive vision loss. RP is typically diagnosed in childhood and rather than a single entity, RP is better described by a …

  2. Open Access 08.01.2024 | Online First

    Genetic profile of syndromic retinitis pigmentosa in Portugal

    Retinitis pigmentosa (RP) comprises a genetically and clinically diverse group of inherited retinal degenerations (IRDs), primarily characterized by rod-cone degeneration. With an estimated prevalence of 1:4000 individuals, it is the most frequent …

  3. 20.10.2023 | OriginalPaper

    Outcomes of vitreoretinal surgery in eyes with retinitis pigmentosa without retinal detachment

    Retinitis pigmentosa (RP) belongs to a broad group of inherited retinal diseases. It is characterized by progressive degeneration of photoreceptors and the retinal pigment epithelium [ 1 , 2 ]. It initially involves the rods and peripheral cones …

  4. Open Access 01.12.2024 | OriginalPaper

    Transpalpebral electrical stimulation for the treatment of retinitis pigmentosa: study protocol for a series of N-of-1 single-blind, randomized controlled trial

    Retinitis pigmentosa (RP) refers to a group of inherited retinal diseases that most often leads to severe visual impairment and blindness. Forms of RP and related diseases include Usher syndrome, Leber congenital amaurosis, and Bardet-Biedl …

  5. 09.12.2023 | OriginalPaper

    Genotypes and clinical features of RHO-associated retinitis pigmentosa in a Japanese population

    Retinitis pigmentosa (RP), or rod-cone dystrophy, comprises a group of inherited retinal degenerative diseases that progressively affect the rod followed by the cone photoreceptor cells. Typical clinical characteristics of RP are early symptoms of …

  6. Open Access 01.12.2023 | OriginalPaper

    Bilateral angle closure glaucoma with retinitis pigmentosa in young patients: case series

    Retinitis pigmentosa (RP), a leading cause of human blindness worldwide, is an inherited retinal degenerated disease [ 1 ]. It features progressive loss of photoreceptors and retinal pigment epithelium (RPE). The fundus appearances manifest as waxy …

  7. Open Access 01.12.2023 | OriginalPaper

    Unraveling mucolipidosis type III gamma through whole genome sequencing in late-onset retinitis pigmentosa: a case report

    Mucolipidosis type III gamma (MLIII gamma, MIM #252,605) is a rare, slowly progressive lysosomal storage disorder with autosomal recessive inheritance. The major phenotypic feature is skeletal dysplasia, and onset of clinical symptoms is seen …

  8. 14.09.2022 | Letter

    Novel mutation for SCA40 with initial presentation as retinitis pigmentosa

    The patient was first examined in 2008 when she was in her thirties and started developing vision difficulties which began with night blindness followed by central visual acuity loss later on and bilateral ptosis for which she was monitored by an …

  9. Open Access 01.12.2023 | OriginalPaper

    Asymmetric presentation with a novel RP2 gene mutation in X-Linked retinitis pigmentosa: a case report

    Retinitis pigmentosa (RP) is the most common inherited retinal disease and is characterized by the progressive degeneration of the rod and cone photoreceptors. The classic triad symptoms of RP are pale waxy optic disc, attenuation of retinal …

  10. Open Access 01.12.2023 | OriginalPaper

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

    Retinitis pigmentosa (RP, MIM# 268000) is a rare inherited retinal disease, and it causes severe vision impairment due to progressive degeneration of the rod photoreceptor cells in the retina [ 1 ]. It might cause photoreceptor cells and RP …

  11. 01.02.2023 | Retinitis pigmentosa | ReviewPaper

    Stellungnahme zur „Kuba-Therapie“ bei tapetoretinalen Degenerationen (Retinitis pigmentosa)

    Stellungnahme der Deutschen Ophthalmologischen Gesellschaft, des Berufsverbandes der Augenärzte Deutschlands, der Retinologischen Gesellschaft und des Arbeitskreises Klinische Fragen der Pro Retina Deutschland e. V., Stand November 2022
  12. 08.03.2023 | OriginalPaper

    Oral minocycline for the treatment of retinitis pigmentosa–associated cystoid macular edema: results of a phase I/II clinical trial

    Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal dystrophies typically characterized by a loss of night vision, followed by decreasing visual fields, and eventual loss of central vision due to progressive degeneration of rod …

  13. Open Access 01.12.2023 | OriginalPaper

    A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India

    Retinitis pigmentosa (RP; OMIM: 26,8000) is an inherited retinal degenerative disease with a predictable prevalence of one in 1,798-5,260 individuals [ 1 ]. Approximately 1.5 million individuals are affected by RP worldwide [ 2 ]. RP patients …

  14. 20.02.2023 | OriginalPaper

    Retinitis pigmentosa and nanophthalmos in a patient with attenuated Hunter’s syndrome

    Mucopolysaccharidoses are characterized by the accumulation of glycosaminoglycans not completely degraded into many tissues, including the eyes. This condition is related to abnormalities of lysosomal enzymes involving the degradation of …

  15. Open Access 01.12.2023 | OriginalPaper

    Thicknesses of the retina and choroid in children with retinitis pigmentosa

    Retinitis pigmentosa (RP) is an inheritable retinal disorder with an estimated prevalence of 1 in 4000 ~ 5000 in the global population [ 1 ]. It can be inherited in an autosomal dominant (AD), autosomal recessive (AR), X-linked (XL), or digenic …

  16. Open Access 21.05.2023 | OriginalPaper

    Development of Novel Patient-Reported Outcome (PRO) and Observer-Reported Outcome (ObsRO) Instruments in Retinitis Pigmentosa (RP) and Leber Congenital Amaurosis (LCA): ViSIO-PRO and ViSIO-ObsRO

    Retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) are a group of rare inherited retinal diseases (IRDs), characterised by the progressive loss of rod and cone photoreceptors [ 1 , 2 ]. This typically leads to the loss of night vision …

  17. Open Access 01.12.2023 | OriginalPaper

    A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family

    Retinitis pigmentosa (RP) is a group of hereditary retinal disorders (HRDs) that affect nearly 1 in 4000 people worldwide [ 1 ]. However, the prevalence of RP varies across world populations, and the condition being highly frequent in the South …

  18. Open Access 22.03.2023 | OriginalPaper

    Quality of Life and Economic Impacts of Retinitis Pigmentosa on Japanese Patients: A Non-interventional Cross-sectional Study

    Retinitis pigmentosa (RP) is one of the inherited retinal dystrophies, which are a heterogeneous group of eye disorders that can result in visual impairment and eventual blindness [ 1 ]. The disease is characterized by the loss of rod and cone …

  19. 19.11.2022 | OriginalPaper

    Research trends in the field of retinitis pigmentosa from 2002 to 2021: a 20 years bibliometric analysis

    Retinitis pigmentosa (RP) is the most common inherited retinal dystrophy (IRD), with a prevalence of 1:4,000 [ 1 ]. RP is characterized by the irreversible loss of rod photoreceptors, initially, followed by the loss of cone photoreceptors [ 2 , 3 …

  20. 17.01.2023 | OriginalPaper

    Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population

    Retinitis pigmentosa (RP) is the most common hereditary retinal dystrophy, with a worldwide prevalence of approximately 1 in 4000 individuals [ 1 ]. RP encompasses a genetically heterogeneous group of retinal degenerative diseases, and more than 70 …

Suchergebnisse filtern:

e.Medpedia

Genetisch determinierte Netzhautdystrophien

Die Augenheilkunde
Genetisch determinierte Netzhautdystrophien sind eine klinisch und genetisch sehr heterogene Gruppe seltener Erkrankungen. Die meisten Formen manifestieren sich schleichend in den ersten Lebensdekaden, sind auf beiden Augen symmetrisch ausgeprägt, von fortschreitendem Charakter und ohne aktuell zugelassene Therapie. Eine Ausnahme ist die RPE65-assoziierte Netzhautdystrophie (RPE65-IRD), für welche eine Genersatztherapie zugelassen ist (Voretigen neparvovec). Aktuell sind mehr als 280 Gene bekannt, bei denen Varianten zu Netzhautdystrophien führen können. Die klare Diagnosestellung erfordert eine Phänotypisierung mittels moderner bildgebender Verfahren, funktionelle Tests und eine Genotypisierung, die heute hohe Trefferraten von bis zu 80 % erreicht.

weitere e.Medpedia Einträge

Suchoperatoren:

„ ... ... “ Findet Dokumente mit genau dieser Wortgruppe in exakt dieser Schreibweise und Reihenfolge (z.B., "rheumatische Beschwerden").
AND / UND Findet Dokumente, in denen beide Begriffe zusammen vorkommen (z.B., alkohol UND demenz).
OR / ODER Findet Dokumente, in denen einer der beiden oder beide Begriffe vorkommen (z.B., hiv ODER aids).
Leerzeichen Findet Dokumente, in denen alle Begriffe vorkommen. Der Leerschritt wird als UND interpretiert (z.B., isolierte systolische hypertonie).
NOT / NICHT Findet Dokumente, in denen der Begriff nach NOT nicht vorkommt (z.B., sars NOT sars-cov-2).
COUNT(...)>n Findet Dokumente, in denen der gesuchte Begriff mehr als n mal vorkommt. n steht für eine beliebige Anzahl (z.B., COUNT(mammakarzinom)>8).
NEAR(..., ..., ) Findet Dokumente, in denen beide Begriffe in beliebiger Reihenfolge innerhalb von maximal n Worten zueinander stehen. Empfehlung: wählen Sie zwischen 15 und 30 als maximale Wortanzahl (z.B., NEAR(covid, diabetes,20)).
* Findet Dokumente, in denen der Begriff in Wortvarianten vorkommt, wobei diese VOR, HINTER oder VOR und HINTER dem Suchbegriff anschließen können (z.B., thrombose*, *thrombose, *thrombose*).
? Findet Dokumente mit dem Suchbegriff in verschiedenen Schreibweisen, hier mit s oder z, also organisation und organization. Das ? steht für eine einzige Stelle (z.B., organi?ation).
& + - Sonderzeichen werden als UND interpretiert (z.B., Diagnose + Therapie).

Sie können Operatoren mit Ihrer Suchanfrage kombinieren, um diese noch präziser einzugrenzen.

Fahren Sie mit der Maus über den Suchoperator, um eine Erklärung seiner Funktionsweise anzuzeigen.