Characterisation of a LINE-1 Insertion in the <i>RP1</i> Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa

<div>Pedigree and retinal imaging of a Finnish family with dominantly inherited retinitis pigmentosa in three generations. (a) Pedigree. Patients III.1 and III.2 (index patient, <i>arrow</i>) and an affected (II.3) and unaffected relative (II.4) participated in the study (<i>asterisks</i>). (b) Fundus images of III.1 and III.2 show arteriolar attenuation (AA), waxy optic disk pallor (WP), and bone spicule pigmentation (BS). (c) Fundus autofluorescence imaging shows a hyperautofluorescent ring (HR) around a hypoautofluorescent central macula (HCM) and in the midperiphery in both. (d) Spectral-domain optical coherence tomography shows cystoid macula oedema (CME) in III.2 and loss of the photoreceptor integrity line (PIL) in III.1. OD: oculus dexter (right eye); OS: oculus sinister (left eye).</div>

Human Mutation

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Figure 1

Figure 1: Characterisation of a LINE-1 Insertion in the <i>RP1</i> Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa 

Human Mutation

Characterisation of a LINE-1 Insertion in the RP1 Gene by Targeted Adaptive Nanopore Sequencing in a Family with Retinitis Pigmentosa

Figure 1