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Article

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.

Scientific reports - 19 Mar 2018

Birtel Johannes, Eisenberger Tobias, Gliem Martin, Müller Philipp L, Herrmann Philipp, Betz Christian, Zahnleiter Diana, Neuhaus Christine, Lenzner Steffen, Holz Frank G, Mangold Elisabeth, Bolz Hanno J, Charbel Issa Peter

Abstract excerpt

Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and phenotypic heterogeneity, with retinal alterations solely or predominantly involving the central retina. Targeted next-generation sequencing (NGS) is an efficient diagnostic tool for identifying mutations in patient with retinitis pigmentosa, which shows similar genetic heterogeneity. To detect the genetic causes of disease in...

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Source

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Identifiers

PMID: 29555955
DOI: 10.1038/s41598-018-22096-0
PMCID: PMC5859282

Genes

MERTK
ABCA4
BEST1
CDH3
CDHR1
CERKL
CRB1
CRX
DRAM2
FBLN5
IMPDH1
JAG1
KIF11
NPHP1
PROM1
PRPH2
RDH5
RPGR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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