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Genes and mutations causing retinitis pigmentosa
S P Daiger1, L S Sullivan, S J Bowne
1Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030, USA. stephen.p.daiger@uth.tmc.edu
Abstract:
Retinitis pigmentosa (RP) is a heterogeneous set of inherited retinopathies with many disease-causing genes, many known mutations, and highly varied clinical consequences. Progress in finding treatments is dependent on determining the genes and mutations causing these diseases, which includes both gene discovery and mutation screening in affected individuals and families. Despite the complexity, substantial progress has been made in finding RP genes and mutations. Depending on the type of RP, and the technology used, it is possible to detect mutations in 30-80% of cases. One of the most powerful approaches to genetic testing is high-throughput 'deep sequencing', that is, next-generation sequencing (NGS). NGS has identified several novel RP genes but a substantial fraction of previously unsolved cases have mutations in genes that are known causes of retinal disease but not necessarily RP. Apparent discrepancy between the molecular defect and clinical findings may warrant reevaluation of patients and families. In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease.
Insights
Identifying genetic mutations causing retinitis pigmentosa (RP) is key to developing treatments. Next-generation sequencing (NGS) advances gene discovery, but reevaluation is needed when genetic defects don't match clinical findings.
Area of Science:
- Ophthalmology
- Genetics
- Molecular Biology
Background:
- Retinitis pigmentosa (RP) is a group of inherited retinal diseases with diverse genetic causes and clinical outcomes.
- Effective treatments for RP depend on identifying the specific genes and mutations responsible.
Purpose of the Study:
- To review current methods for gene discovery and mutation detection in RP.
- To highlight challenges and unresolved issues in RP genetics.
Main Methods:
- Utilizing high-throughput 'deep sequencing', specifically next-generation sequencing (NGS), for genetic testing.
- Reviewing existing literature on gene discovery and mutation screening in inherited retinopathies.
Main Results:
- NGS has successfully identified novel RP genes and detected mutations in 30-80% of cases, depending on RP type and technology.
- A significant number of previously unexplained RP cases involve mutations in known retinal disease genes, not exclusively RP genes.
- Discrepancies between molecular findings and clinical presentation necessitate patient and family reevaluation.
Conclusions:
- Advances in genetic testing, particularly NGS, have improved mutation detection rates in RP.
- Revisiting patients with apparent genetic-clinical discrepancies is crucial for accurate diagnosis and understanding disease mechanisms.
- The principles discussed for RP are applicable to other inherited retinal diseases.
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