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Monitoring progression of retinitis pigmentosa: current recommendations and recent advances
Moreno Menghini1, Jasmina Cehajic-Kapetanovic2, Robert E MacLaren3
1Oxford Eye Hospital and Nuffield Department of Clinical Neurosciences, Oxford University, The John Radcliffe Hospital, West Wing, Oxford OX3 9DU, United Kingdom, +41 79 704 52 58.
Introduction:
Retinitis pigmentosa (RP) is the most common form of inherited retinal degenerations with an estimated prevalence of 1 in 4,000 and more than 1 million individuals affected worldwide. With the introduction of the first retinal gene therapy in 2017 the importance of understanding the mechanisms of retinal degeneration and its natural progression has shifted from being of academic interest to being of pivotal for the development of new therapies.
Areas Covered:
This review covers standard and innovative diagnostic techniques and complementary examinations needed for the evaluation and treatment of RP. It includes chapters on the assessment of visual function, retinal morphology, and genotyping.
Expert Opinion:
Monitoring the progression of RP can best be achieved by combining assessments of both visual function and morphology. Visual acuity testing using ETDRS charts should be complemented by low-luminance visual acuity and colour vision tests. Assessment of the visual field can also be useful in less advanced cases. In those with central RP involvement measuring retinal sensitivity using microperimetry is recommended. Retinal morphology is best assessed by OCT and autofluorescence. Genetic testing is pivotal as it contributes to the pathophysiological understanding and can guide clinical management as well as identify individuals that could benefit from retinal gene therapy.
Insights
Retinitis pigmentosa (RP) monitoring requires combining visual function and retinal morphology assessments. Genetic testing is crucial for understanding disease mechanisms and guiding gene therapy for RP patients.
Area of Science:
- Ophthalmology
- Genetics
- Retinal Degenerations
Background:
- Retinitis pigmentosa (RP) is a common inherited retinal degeneration affecting over 1 million people globally.
- The advent of gene therapy highlights the need to understand RP progression for developing new treatments.
Purpose of the Study:
- To review diagnostic techniques for evaluating and treating RP.
- To outline methods for assessing visual function, retinal morphology, and genetic factors in RP.
Main Methods:
- Review of standard and innovative diagnostic techniques for RP.
- Assessment of visual function (visual acuity, color vision, visual field, microperimetry).
- Evaluation of retinal morphology (OCT, autofluorescence) and genotyping.
Main Results:
- Combined visual function and morphology assessments are optimal for monitoring RP progression.
- Specific tests like ETDRS charts, low-luminance acuity, color vision, visual field, and microperimetry are recommended for visual function.
- OCT and autofluorescence are key for assessing retinal morphology.
Conclusions:
- Monitoring RP progression necessitates a combination of visual function and morphological assessments.
- Genetic testing is pivotal for understanding RP pathophysiology, guiding clinical management, and identifying candidates for gene therapy.
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