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Non-syndromic retinitis pigmentosa.
Sanne K Verbakel1, Ramon A C van Huet1, Camiel J F Boon2
1Department of Ophthalmology, Donders Institute for Brain, Cognition and Behavior, Radboud University Medical Center, Nijmegen, The Netherlands.
Progress in Retinal and Eye Research
|March 30, 2018
Summary
Retinitis pigmentosa (RP) is an inherited condition causing photoreceptor degeneration, leading to vision loss. This review details RP subtypes, genetic causes, and current management strategies for this leading cause of visual disability.
Area of Science:
- Ophthalmology
- Genetics
- Medical Research
Background:
- Retinitis pigmentosa (RP) is a group of inherited retinal dystrophies affecting rod and cone photoreceptors.
- It is a primary cause of visual disability, affecting 1 in 4000 individuals globally.
- While often non-syndromic, 20-30% of RP cases are associated with other medical conditions.
Purpose of the Study:
- To provide a comprehensive overview of Retinitis Pigmentosa (RP) clinical characteristics.
- To correlate clinical findings with specific genetic subtypes of RP.
- To review diagnostic tools, genetic factors, pathogenesis, and management strategies for RP.
Main Methods:
- Comprehensive literature review of Retinitis Pigmentosa (RP).
- Analysis of clinical characteristics across genetically defined RP patient subsets.
- Inclusion of imaging atlas (fundus photographs) for RP subtypes.
- Discussion of genetic variants, pathogenesis, and therapeutic options.
Main Results:
- RP presents with night blindness and progressive visual field loss due to rod and cone dysfunction.
- Electroretinography shows reduced or absent photoreceptor function.
- Optical coherence tomography (OCT) and fundus autofluorescence (FAF) reveal outer retinal layer loss.
- Over 80 genes are linked to non-syndromic RP, highlighting significant genetic heterogeneity.
Conclusions:
- RP's heterogeneity necessitates genotype-specific understanding for accurate diagnosis and management.
- Genetic factors and affected retinal processes are crucial in RP pathogenesis.
- Management includes genetic counseling, visual rehabilitation, and exploration of emerging therapies.
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