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Article

Identification of a novel RPGRIP1 mutation in an Iranian family with leber congenital amaurosis by exome sequencing.

Journal of cellular and molecular medicine - 1 Mar 2018

Imani Saber, Cheng Jingliang, Mobasher-Jannat Abdolkarim, Wei Chunli, Fu Shangyi, Yang Lisha, Jadidi Khosrow, Khosravi Mohammad Hossein, Mohazzab-Torabi Saman, Shasaltaneh Marzieh Dehghan, Li Yumei, Chen Rui, Fu Junjiang

Abstract excerpt

Leber congenital amaurosis (LCA) is a heterogeneous, early-onset inherited retinal dystrophy, which is associated with severe visual impairment. We aimed to determine the disease-causing variants in Iranian LCA and evaluate the clinical implications. Clinically, a possible LCA disease was found through diagnostic imaging, such as fundus photography, autofluorescence and optical coherence tomography. All affected...

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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: 29193763
DOI: 10.1111/jcmm.13454
PMCID: PMC5824405

Genes

RPGRIP1
RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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