Systemic Diseases Associated with Retinal Dystrophies
Abstract
Inherited retinal degeneration (IRD) may occur in isolation or as part of a multi-systemic condition. Ocular manifestations may be the presenting symptom of a syndromic disease and can include retinitis pigmentosa, cone-rod dystrophy, or maculopathy. Alternatively, patients affected with syndromic disease may already have other systemic manifestations at the time retinal disease is diagnosed. Some of these systemic diseases can cause significant morbidity. Here, we review several of these syndromic IRDs and their underlying genetic causes. Early recognition and referral for systemic evaluation and surveillance may lead to early intervention and an improved outcome. Obtaining a molecular diagnosis can be beneficial in securing a definitive diagnosis, especially in cases with atypical presentations. A genetic diagnosis may also be informative with regard to prognosis and potential therapies. Effective management and rehabilitation for patients with syndromic retinal dystrophy requires a comprehensive genetic-based team approach involving patients, family members, ophthalmologists, primary care physicians, and geneticists.
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Ciliopathies can manifest as a non-syndromic disease involving a single organ system, or a pleiotropic disorder that affects multiple organ systems.
“Ciliopathies can manifest as a non-syndromic disease involving a single organ system, or a pleiotropic disorder that affects multiple organ systems89–91.”
From The inner junction protein CFAP20 functions in motile and non-motile cilia and is critical for vision (2022) · cites this paper as [90]
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Elucidating the genetic landscape of inherited retinal disorders in India
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- Authors
- Werdich, X. Q., Place, E. M., & Pierce, E. A.
- Affiliations
- Massachusetts Eye and Ear Infirmary (US)
- Corresponding author
- Werdich, Xiang Q.
- Venue
- Seminars in Ophthalmology
- Publisher
- Informa UK Limited
- Published
- 2014-09
- Volume
- 29
- Issue
- 5-6
- Pages
- 319-328
- ISSN
- 0882-0538 (ISSN-L)
- 1744-5205
- OpenAlex
- W2168961174
- Cited by
- 54
- References
- 87
- Citations by year
- 2026: 1 · 2025: 3 · 2024: 5 · 2023: 4 · 2022: 4 · 2021: 8 · 2020: 8 · 2019: 4 · 2018: 5 · 2017: 6 · 2016: 2 · 2015: 2 · 2014: 1 · 2013: 1
- FWCI
- 0.35
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Seminars in Ophthalmology (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- inherited retinal degeneration, retinitis pigmentosa, cone-rod dystrophy, maculopathy, genetic diagnosis, molecular diagnosis, prognosis, rehabilitation, genetic counseling, systemic manifestations
- MeSH terms
- Cilia, Genetic Testing, Humans, Lysosomal Storage Diseases, Peroxisomal Disorders, Mitochondrial Diseases, Retinal Dystrophies
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