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Article

Unilateral retinitis pigmentosa occurring in an individual with a mutation in the CLRN1 gene.

BMJ case reports - 15 Mar 2018

Sim Peng Yong, Jeganathan V Swetha E, Wright Alan F, Cackett Peter

Abstract excerpt

This case report depicts the clinical course of a female patient with unilateral retinitis pigmentosa, who first presented at the age of 12 years. Fundus photography at the time revealed unilateral pigmentary retinopathy, which was associated with extinguished electroretinogram (ERG) signal. At 35 years of age, fundus examination revealed deterioration of pre-existing unilateral pigmentary retinopathy with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 29545425
DOI: 10.1136/bcr-2017-222045
PMCID: PMC5878382

Genes

ERG
CLRN1

Variants

Provenance

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