Evidence map›Paper›PMID 19184602›Full record

ReviewDer Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft2009

[Genetic causes of hereditary cone and cone-rod dystrophies].

S Kohl

Abstract readEnglish AbstractReview
PubMed Publisher
In one paragraph

Review in Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.7field-weighted citation impact, top 32% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 11 citations in OpenAlex.

  1. Case series: The value of fundus autofluorescence in inherited macular disease.Optometry and vision science : official publication of the American Academy of Optometry · 2026
    Article
  2. [Progressive loss of vision in cone dystrophy. Search for evidence with macular OCT and multifocal ERG].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2019
    Article
  3. Article
  4. Insulin receptor signaling in cones.The Journal of biological chemistry · 2013
    Article
  5. Article
  6. [Cone dystrophy--of the significance of a minority of photoreceptors].Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft · 2009
    Article
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

1 author at 1 institution in 2 countries.

S KohlMolekulargenetisches Labor, Forschungsinstitut für Augenheilkunde, Department für Augenheilkunde, Universitätsklinikum Tübingen, Röntgenweg 11, 72076 Tübingen, Deutschland. susanne.kohl@med.uni-tuebingen.de
Universitätsklinik für Augenheilkunde · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundCone and cone-rod dystrophies belong to the genetically and phenotypically very heterogeneous group of retinal degenerations. This article aims to review the current knowledge of genes and mutations involved in these rare disorders that primarily affect the cone photoreceptor system.

methodsLiterature and database search and summary of our own molecular genetic analyses in patients affected by achromatopsia, blue cone monochromatism, and cone and cone-rod dystrophy.

resultsCone and cone-rod dystrophies can be divided according to the disease course into stationary and progressive disorders or by the genetic mode of inheritance into autosomal-recessive, autosomal-dominant, and X-linked traits. To date, seven genes for autosomal-recessive and nine for autosomal-dominant inherited forms of cone and cone-rod dystrophy, as well as two underlying genes on the X chromosome, have been identified. Linkage analyses imply two additional loci for autosomal-dominant, autosomal-recessive, and X-linked forms of these disorders.

conclusionReliable data on the prevalence and incidence of hereditary cone and cone-rod dystrophies and the underlying genetic defects exist only for distinct clinical and genetic entities. Analysis of the known genes results in identification of the genetic defect and mutation in only a subset of patients.

Indexed as

Color Vision DefectsGenetic Predisposition to DiseaseHumansIncidencePhotoreceptor Cells, VertebrateRetinal Diseases

Identifiers

PMID19184602
OpenAlexW1542240172

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.