Titlebook: Retinitis Pigmentosa; Stephen H. Tsang,Peter M.J. Quinn Book 2023 The Editor(s) (if applicable) and The Author(s), under exclusive license

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Whole Genome Sequencing for Detection of Structural Variants in Patients with Retinitis Pigmentosa, of the known mutations that cause RP reside in the protein-coding portions of DNA; however, a growing number of pathogenic mutations have been identified within the non-coding portions. This chapter details a brief method for the detection of structural variants throughout the genome for the identi

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Fundus Photography Methodologies to Assess RP Patients,ndus photography has become a staple in evaluating patients with retinitis pigmentosa (RP). Other important multimodal forms of fundus photography used today include red-free fundus photography, short-wavelength autofluorescence, and near-infrared autofluorescence. These photography methodologies pr

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Visual Function Tests: Visual Fields,ng changes in a patient’s visual field (VF). VF loss corresponds to damage at any point in the visual pathway, including the retina, such as in RP. Damage to different parts of this pathway corresponds to characteristic VF defects. Perimetry tests are subjective, as they are functional tests that he

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Visual Function Tests,f among these are a gradual loss of visual field, visual acuity, and night vision (otherwise known as nyctalopia). These changes often occur slowly, over a course of decades. Objective modalities for assessing these many aspects of visual function are crucial, not only to the monitoring of disease p

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