Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

doi:10.1016/j.preteyeres.2024.101244

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Article

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

Progress in retinal and eye research - 1 May 2024

Georgiou Michalis, Robson Anthony G, Fujinami Kaoru, de Guimarães Thales A C, Fujinami-Yokokawa Yu, Daich Varela Malena, Pontikos Nikolas, Kalitzeos Angelos, Mahroo Omar A, Webster Andrew R, Michaelides Michel

Abstract excerpt

Inherited retinal diseases (IRD) are a leading cause of blindness in the working age population and in children. The scope of this review is to familiarise clinicians and scientists with the current landscape of molecular genetics, clinical phenotype, retinal imaging and therapeutic prospects/completed trials in IRD. Herein we present in a comprehensive and concise manner: (i) macular dystrophies (Stargardt...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 38278208
DOI: 10.1016/j.preteyeres.2024.101244

Genes

ABCA4
OPN1LW
OPN1MW
PRPH2
AIPL1
ATF6
BEST1
CEP290
CNGA3
CNGB3
CRB1
CYP4V2
EFEMP1
GNAT2
GUCA1A
GUCY2D
KCNV2
NMNAT1
NR2E3
PDE6C
PDE6H
RDH12
RPE65
RPGR
RS1
TIMP3
TULP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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