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8 535 záznamů v Medvik

Časopis

Community eye health journal
[Community eye health]

International Centre for Eye Health
Autor Autorita

London : International Centre for Eye Health, 1988-

elektronický časopis

MeSH
oči MeSH
oftalmologie výchova organizace a řízení MeSH

Konspekt
Ortopedie. Chirurgie. Oftalmologie
NLK Obory
oftalmologie
NLK Publikační typ
elektronické časopisy

Článek

Syndrom suchého oka
[Dry eye syndrome]
[The dry eye syndrome]

... review providing the general practitioners a survey on present state of the art concerning the dry eye ...

Pitrová, Šárka
Autor Pitrová, Šárka

Praktický lékař. 2003 ; Roč. 83 (č. 7) : s. 377-382.

ISSN 0032-6739
Medvik
Zdroj

Autorka formou souhrnného sdělení poskytuje praktickým lékařům přehled o současnémstavu problematiky syndromu suchého oka, kterým trpí každý dvacátý pacient přicházející do ordinace očního lékaře. Poruchy složení a funkce slzného filmu, jeho nestabilita a hyperosmolarita jsou významnými faktory podílejícími se na vzniku tohoto často opomíjeného onemocnění. Uveden přehled těchto základních charakteristik nemoci: etiopatogeneze syndromu, subjektivní a objektivní symptomy, klinický průběh, diagnostika a léčba syndromu suchého oka.

The author present a literature review providing the general practitioners a survey on present state of the art concerning the dry eye syndrome, affecting every twentieth patient coming to the ophthalmologist's consulting room. The disorders in the composition and function of the tear film, its instability and hyperosmolality are important factors contributing to the origin of this frequently neglected disease. A survey of the following basic characteristics of the disease is presented: etiopathogenesis of the syndrome, subjective and objective symptoms, clinical course, diagnostics and therapy of the dry eye syndrome.

MeSH
lidé MeSH
syndromy suchého oka diagnóza patofyziologie terapie MeSH
Check Tag
lidé MeSH
Publikační typ
přehledy MeSH

Kniha

XIIth International Congress of Eye Research : Yokohama, Japan, September 29 - October 4, 1996 : abstracts of papers
[12th International Congress of Eye Research]

International Society for Eye Research. Meeting
Autor Autorita
International Congress of Eye Research (12. : 1996 : Jokohama, Japonsko)
Autor Autorita

London : Academic Press, 1996

Experimental eye research, ISSN 0014-4835 Supplement Vol. 63. 1

XXX, S265 s. ; 32 cm

Časopis

Progress in retinal and eye research
[Prog Retin Eye Res]

Oxford : Elsevier Science, 1994-

elektronický časopis

Abstrakt

XIth International Congress of Eye Research : New Delhi, India : November 13 - 18, 1994 : program and abstracts
[11th International Congress of Eye Research]

International Society for Eye Research
Autor Autorita
International Congress of Eye Research (11. : 1994 : Nové Dillí, Indie)
Autor Autorita

London [etc.] : Academic Press, 1994

Experimental eye research ; Vol. 59 Supplement 1

[1st ed.] XVII, S180 s. ; 29 cm

Článek online

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement
Dollfus, ERN-EYE study group

... BACKGROUND: Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children ...

Orphanet journal of rare diseases. 2021 ; 16 (1) : 142. [pub] 20210320

Orphanet J Rare Dis
ISSN 1750-1172
Medvik
Zdroj

BACKGROUND: Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN-EYE) is to facilitate improvement in diagnosis of RED in European member states. MAIN BODY: Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. SHORT CONCLUSION: Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.