Ocular Manifestations Among Patients with Congenital Insensitivity to Pain Due to Variants in PRDM12 and SCN9A Genes

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2022 Sep 16

PMID 36111846

Authors

Baker Elsana

Ahed Imtirat

Ronit Yagev

Libe Gradstein

Pierre Majdalani

Oren Iny

Ruti Parvari

Erez Tsumi

Affiliations

Soon will be listed here.

Abstract

Congenital insensitivity to pain (CIP) is a group of rare genetic disorders with a common characteristic of absent sensation to nociceptive pain. Here we present a series of six patients; three had a novel variant in the PRDM12 gene (group A), and three had a missense variant in the SCN9A gene (group B). We compared the ocular manifestations between the two groups. Records of these patients from 2009 through 2018 were reviewed. The retrieved data included demographics, genetic analysis results, ocular history and ophthalmic findings including visual acuity, corneal sensitivity, tear production, ocular surface findings, cycloplegic refraction, and fundoscopy. We found that patients with PRDM12 variant had more severe manifestations of ocular surface disease, with more prevalent corneal opacities and worse visual acuity, compared to patients with SCN9A variant.

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Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.

Elsana B, Imtirat A, Yagev R, Gradstein L, Majdalani P, Iny O Am J Med Genet A. 2022; 188(12):3463-3468.

PMID: 36111846 PMC: 9825954. DOI: 10.1002/ajmg.a.62968.

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