ReviewDiagnostics (Basel, Switzerland)2020
Syndromic Inherited Retinal Diseases: Genetic, Clinical and Diagnostic Aspects.
Review in Diagnostics (Basel, Switzerland), 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 70 papers.
What it found
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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.
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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.
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Who cites it
70 citing papers in PubMed, 95 citations in OpenAlex.
- A national cross-sectional study of patients with inherited retinal disease in China.Scientific reports · 2026Article
- Biallelic Pathogenic Variants in PYGM Impair Retinal Glycogenolysis Causing a Range of Phenotypes.Investigative ophthalmology & visual science · 2026Article
- Ability of Large Language Models to Answer Patients' Questions and Generate Educational Materials for Uncommon Retinal Conditions.Journal of vitreoretinal diseases · 2026Article
- Review
- Genetic Testing in Inherited Retinal Disease: Current Strategies and Future Directions.Journal of personalized medicine · 2026Review
- Retinal Pigment Epitheliopathy due to Sub-Optimal Recycling of Vitamin A (RESORVA): A Novel RDH11 -Related Phenotype.Clinical genetics · 2026Article
- Tubulin hyperglutamylation induces retinal degeneration by disrupting ciliary architecture and protein trafficking.Zoological research · 2026Article
- Elucidating the genetic landscape of inherited retinal disorders in India.Human genomics · 2026Review
- Restoring Sight: The Journey of AIPL1 from Discovery to Therapy.International journal of molecular sciences · 2025Review
- Decoding the Genetic Puzzle of Inherited Retinal Dystrophies: Novel Insights From a Turkish Cohort.Clinical genetics · 2025Article
- RetiGene, a comprehensive gene atlas for inherited retinal diseases.American journal of human genetics · 2025Review
- A Practical Guide to Genetic Eye Conditions for Paediatricians.Journal of paediatrics and child health · 2025Review
- Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.Genes · 2025Review
- Divergent Manifestations in Biallelic Versus Monoallelic Variants of RP1-, BEST1-, and PROM1-Associated Retinal Disorders.International journal of molecular sciences · 2025Article
- Article
- Article
- Induced Pluripotent (iPSC) and Mesenchymal (MSC) Stem Cells for In Vitro Disease Modeling and Regenerative Medicine.International journal of molecular sciences · 2025Review
- Ocular Characteristics and Genotype-Oriented Disease Spectrum of Alström Syndrome in Taiwan.Translational vision science & technology · 2025Article
- Variants in the AGBL5 gene are responsible for autosomal recessive Retinitis pigmentosa with hearing loss.European journal of human genetics : EJHG · 2025Article
- Two novel mutations in TBC1D32 add complexity to the oro-facial-digital syndrome.Human genomics · 2025Article
10 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited retinal diseases (IRDs), which are among the most common genetic diseases in humans, define a clinically and genetically heterogeneous group of disorders. Over 80 forms of syndromic IRDs have been described. Approximately 200 genes are associated with these syndromes. The majority of syndromic IRDs are recessively inherited and rare. Many, although not all, syndromic IRDs can be classified into one of two major disease groups: inborn errors of metabolism and ciliopathies. Besides the retina, the systems and organs most commonly involved in syndromic IRDs are the central nervous system, ophthalmic extra-retinal tissues, ear, skeleton, kidney and the cardiovascular system. Due to the high degree of phenotypic variability and phenotypic overlap found in syndromic IRDs, correct diagnosis based on phenotypic features alone may be challenging and sometimes misleading. Therefore, genetic testing has become the benchmark for the diagnosis and management of patients with these conditions, as it complements the clinical findings and facilitates an accurate clinical diagnosis and treatment.
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Registered trials
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.