Differences in intraretinal pigment migration across inherited retinal dystrophies
American Journal of Ophthalmology May 22, 2020
Oh JK, Levi SR, Kim J, et al. - A retrospective cohort study was conducted to ascertain if there is a difference in the prevalence of intraretinal pigment migration (IPM) across age and genetic etiologies of inherited retinal dystrophies (IRDs). Researchers assessed individuals at a single tertiary referral center. This analysis enrolled all patients with a clinical diagnosis of IRD and confirmatory genetic testing. They included a sum of 392 patients fit inclusion criteria and excluded 151 patients based on inconclusive genetic testing. They divided individuals into three groups, ciliary and ciliary-related photoreceptor, non-ciliary photoreceptor, and retinal pigment epithelium (RPE), based on the cellular expression of the gene and the primary affected cell type. They assessed presence of IPM through slit lamp biomicroscopy, indirect ophthalmoscopy, and wide-field color fundus photography. The outcomes of this study demonstrate that IPM is a finding that is more commonly observed in IRDs caused by mutations in photoreceptor-specific genes as compared with RPE-specific genes. It was shown that in RPE-specific genes, the absence of IPM does not always rule out IRD and should raise suspicion for disease mutations.
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