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Article

First Insights Into the Phenotype and Genotype of Inherited Retinal Disorders in the Democratic Republic of Congo (DRC).

Annals of human genetics - 1 Jul 2025

Nsiangani Lusambo Nadine, Fuanani Patrick, Mubungu Gerrye, Makay Prince, Ngole Mamy, Ngweme Georgette, Kajingulu François-Pantaléon, Perry Denise, Kesari Akanchha, Calzetti Giacomo, Rivolta Carlo, Devriendt Koenraad, Lukusa Tshilobo Prosper, Thorpe Erin, Taft Ryan J, Lumaka Aimé

Abstract excerpt

PURPOSE/INTRODUCTION: Inherited retinal disorders (IRD) are a highly heterogeneous group of retinal diseases often characterized by progressive bilateral degeneration of rod and cone photoreceptors. Very little information is available on the genotype and phenotype of IRD in Central Africa. We investigated genetic causes of IRD in a well-characterized group of patients from the Democratic Republic of Congo (DRC)....

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 40377368
DOI: 10.1111/ahg.12604

Genes

ADAM9
CYP4V2
IFT140
MERTK
RP1
USH2A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 9 Sept 2026.

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