Skip to main content
main-content

01.02.2014 | Clinical Case Report | Ausgabe 1/2014

Documenta Ophthalmologica 1/2014

Disease progression in autosomal dominant cone–rod dystrophy caused by a novel mutation (D100G) in the GUCA1A gene

Zeitschrift:
Documenta Ophthalmologica > Ausgabe 1/2014
Autoren:
Eva Nong, Winston Lee, Joanna E. Merriam, Rando Allikmets, Stephen H. Tsang
Wichtige Hinweise

Electronic supplementary material

The online version of this article (doi:10.​1007/​s10633-013-9420-z) contains supplementary material, which is available to authorized users.

Abstract

Purpose

To document longitudinal fundus autofluorescence (FAF) and electroretinogram (ERG) findings in a family with cone–rod dystrophy (CRD) caused by a novel missense mutation (D100G) in the GUCA1A gene.

Methods

Observational case series.

Results

Three family members 26–49 years old underwent complete clinical examinations. In all patients, funduscopic findings showed intraretinal pigment migration, loss of neurosensory retinal pigment epithelium, and macular atrophy. FAF imaging revealed the presence of a progressive hyperautofluorescent ring around a hypoautofluorescent center corresponding to macular atrophy. Full-field ERGs showed a more severe loss of cone than rod function in each patient. Thirty-hertz flicker responses fell far below normal limits. Longitudinal FAF and ERG findings in one patient suggested progressive CRD. Two more advanced patients exhibited reduced rod response consistent with disease stage. Direct sequencing of the GUCA1A gene revealed a new missense mutation, p.Asp100Gly (D100G), in each patient.

Conclusion

Patients with autosomal dominant CRD caused by a D100G mutation in GUCA1A exhibit progressive vision loss early within the first decade of life identifiable by distinct ERG characteristics and subsequent genetic testing.

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

★ PREMIUM-INHALT
e.Med Interdisziplinär

Für Ihren Erfolg in Klinik und Praxis - Die beste Hilfe in Ihrem Arbeitsalltag als Mediziner

Mit e.Med Interdisziplinär erhalten Sie Zugang zu allen CME-Fortbildungen und Fachzeitschriften auf SpringerMedizin.de.


Zusatzmaterial
Nur für berechtigte Nutzer zugänglich
Literatur
Über diesen Artikel

Weitere Artikel der Ausgabe 1/2014

Documenta Ophthalmologica 1/2014 Zur Ausgabe

Neu im Fachgebiet Augenheilkunde