[Clinical Findings and Diagnostics of Cone Dystrophy]

Overview

Journal Ophthalmologe

Specialty Ophthalmology

Date 2009 Feb 5

PMID 19190919

Citations 7

Authors

U Kellner

S Kellner

Affiliations

Soon will be listed here.

Abstract

Background: Cone dystrophies present with highly variable clinical findings and often limited retinal changes, which may lead to misdiagnosis. The purpose of the present review of the clinical presentation and diagnosis of cone dystrophies is to provide guidelines for improved patient care.

Methods: A literature search and evaluation of the clinical findings were carried out in 450 patients with cone dystrophy examined between 1986 and 2008.

Results: Characteristic signs are loss of visual acuity, photophobia and central scotoma. The diagnosis of cone dystrophy is determined by a full-field electroretinogram (ERG). Fundus and near-infrared autofluorescence as well as optical coherence tomography allow detection of retinal structural abnormalities even when findings from ophthalmoscopy are normal.

Conclusion: The diagnosis of cone dystrophy is difficult due to unspecific subjective symptoms and absence of characteristic ophthalmoscopic findings. The differential diagnosis of unexplained visual loss should include cone dystrophy and requires either a full-field or multifocal ERG.

Citing Articles

A duplication on chromosome 16q12 affecting the IRXB gene cluster is associated with autosomal dominant cone dystrophy with early tritanopic color vision defect.

Kohl S, Llavona P, Sauer A, Reuter P, Weisschuh N, Kempf M Hum Mol Genet. 2021; 30(13):1218-1229.

PMID: 33891002 PMC: 8212766. DOI: 10.1093/hmg/ddab117.

Long term follow-up of a family with dominant cone dystrophy.

Tsokolas G, Almuhtaseb H, Griffiths H, Shawkat F, Pengelly R, Sarah E Int J Ophthalmol. 2018; 11(12):1945-1950.

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[Progressive loss of vision in cone dystrophy. Search for evidence with macular OCT and multifocal ERG].

Schroter A, Kosanetzky N, Kawan R, Funk I, Grunauer-Kloevekorn C, Ness T Ophthalmologe. 2018; 116(8):789-793.

PMID: 30426193 DOI: 10.1007/s00347-018-0804-z.

Multimodal imaging of foveal cavitation in retinal dystrophies.

Battaglia Parodi M, Cicinelli M, Iacono P, Bolognesi G, Bandello F Graefes Arch Clin Exp Ophthalmol. 2016; 255(2):271-279.

PMID: 27491512 DOI: 10.1007/s00417-016-3450-7.

[Morphological characteristics in macular telangiectasia type 2].

Charbel Issa P, Heeren T, Kruger E, Zeimer M, Pauleikhoff D, Holz F Ophthalmologe. 2014; 111(9):819-28.

PMID: 25204527 DOI: 10.1007/s00347-014-3082-4.

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