Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

[Clinical and genetic aspects of inherited retinal dystrophies : Phenotypic and molecular characterization of 1000 IRD patients in a German tertiary referral center].

Die Ophthalmologie - 1 Mar 2026

Sassen Sandrine H, Kochs Constanze L, Saßmannshausen Marlene, Birtel Johannes, Mauschitz Matthias M, Holz Frank G, Herrmann Philipp

Abstract excerpt

BACKGROUND: Inherited retinal diseases (IRDs) are a clinically and genetically heterogeneous group of usually progressive retinal disorders that frequently lead to severe vision loss. The treatment options for these mostly monogenetic diseases are currently limited. As various treatment innovations are in the phase of clinical development, comprehensive clinical and genetic diagnostics are crucial. OBJECTIVE:...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Testing

Share to Germany

Share to Peripherins

Share to Retinal Dystrophies

Share to Tertiary Care Centers

Share to Young Adult

Source

Identifiers

PMID: 41603938
DOI: 10.1007/s00347-026-02383-2

Genes

ABCA4
PRPH2
RPGR
USH2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[Clinical and genetic aspects of inherited retinal dystrophies : Phenotypic and molecular characterization of 1000 IRD patients in a German tertiary referral center].PMID 41603938Read ↗

State of the Art on Inherited Retinal Dystrophies: Management and Molecular GeneticsSemantic proximity Read ↗

[Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics].Semantic proximity Read ↗

Genetics of Retinitis Pigmentosa and Other Hereditary Retinal Disorders in Western Switzerland.Semantic proximity Read ↗

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal GenesSemantic proximity Read ↗

Genetic architecture of inherited retinal degeneration in Germany: A large cohort study from a single diagnostic center over a 9-year period.Semantic proximity Read ↗

Genetic Analysis of 252 Index Cases with Inherited Retinal Diseases Using a Panel of 351 Retinal Genes.Semantic proximity Read ↗

Genetic Basis of Inherited Retinal Disease in a Molecularly Characterized Cohort of More Than 3000 Families from the United Kingdom.Semantic proximity Read ↗

[Genetic diagnostic testing in inherited retinal dystrophies].Semantic proximity Read ↗

Inherited retinal diseases: Linking genes, disease-causing variants, and relevant therapeutic modalities.Semantic proximity Read ↗

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.Semantic proximity Read ↗

[Inherited retinal dystrophies: contributions of molecular genetics].Semantic proximity Read ↗

Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.