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Cited by 78Retinal Development and DisordersGenetic and Kidney Cyst DiseasesRetinal Diseases and Treatments

Diagnostic Challenges in Retinitis Pigmentosa: Genotypic Multiplicity and Phenotypic Variability

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Chang, Susie, Vaccarella, Leah, Olatunji, Sunday, Cebulla, Colleen, Christoforidis, John·2011·Current Genomics
DOI 10.2174/138920211795860116PMC PMC3131734
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Abstract

Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal disorders. Diagnosis can be challenging as more than 40 genes are known to cause non-syndromic RP and phenotypic expression can differ significantly resulting in variations in disease severity, age of onset, rate of progression, and clinical findings. We describe the clinical manifestations of RP, the more commonly known causative gene mutations, and the genotypic-phenotypic correlation of RP. Keywords: Electroretinography, Optical Coherence Tomography, Electro-Oculography, heterogeneity, Visual Acuity, genetic testing, genotype-phenotype correlation, phenotypic variation, clinical manifestation, heterogeneity, Retinitis pigmentosa

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  • The variety of characteristics seen in different diseases adds a layer of complexity to the diagnostic process.

    “the variety of characteristics seen in different diseases adds a layer of complexity to the diagnostic process [129,130].”

    From Toward Safer Diagnoses: A SEIPS-Based Narrative Review of Diagnostic Errors (2026) · cites this paper as [129]

    The Introduction says that RP has a vast differential diagnosis and that its broad range of clinical severity makes diagnosis challenging. This supports the point for retinitis pigmentosa, but the cited paper does not establish the broader claim across different diseases generally. (LLM, conf=0.82)

    Experimental — accuracy not yet measured

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References 77 · Cited by 78

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Authors
Chang, S., Vaccarella, L., Olatunji, S., Cebulla, C., & Christoforidis, J.
Affiliations
The Ohio State University Wexner Medical Center (US)
Corresponding author
Chang, Susie
ORCID
Venue
Current Genomics
Publisher
Bentham Science Publishers Ltd.
Published
2011-06-01
Volume
12
Issue
4
Pages
267-275
ISSN
1389-2029 (ISSN-L)
DOI
10.2174/138920211795860116
PMC
PMC3131734
OpenAlex
W1976074490
Cited by
78
References
77
Citations by year
2026: 5 · 2025: 5 · 2024: 13 · 2023: 8 · 2022: 7 · 2021: 3 · 2020: 5 · 2019: 4 · 2018: 4 · 2017: 11 · 2016: 2 · 2015: 5 · 2014: 2 · 2013: 2 · 2012: 2
FWCI
0.78
Type
journal article
Language
en
Open access
Locations
  • Current Genomics (publishedVersion)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
Funders
National Center for Research Resources (UL1RR025755)
Topics
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
  • Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
Keywords
retinitis pigmentosa, genotype-phenotype correlation, phenotypic variability, inherited retinal degeneration, clinical features, genetic testing, disease heterogeneity, disease progression

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