Cone-rod dystrophy can be a manifestation of Danon disease

Alberta A H J Thiadens, Niki W R Slingerland, Ralph J Florijn, Gerhard H Visser, Frans C Riemslag, Caroline C W Klaver

    Research output: Contribution to journalArticleResearchpeer-review

    Abstract

    BACKGROUND: Danon disease is a neuromuscular disorder with variable expression in the eye. We describe a family with Danon disease and cone-rod dystrophy (CRD).

    METHODS: Affected males of one family with Danon were invited for an extensive ophthalmologic examination, including color vision testing, fundus photography, Goldmann perimetry, full-field electroretinogram (ERG), and SD-OCT. Previous ophthalmologic data were retrieved from medical charts. The LAMP2 and RPGR gene were analyzed by direct sequencing.

    RESULTS: Two siblings had no ocular phenotype. The third sibling and a cousin developed CRD leading to legal blindness. Visual acuity deteriorated progressively over time, color vision was severely disturbed, and ERG showed reduced photopic and scotopic responses. SD-OCT revealed thinning of the photoreceptor and RPE layer. Visual fields demonstrated central scotoma. The causal mutation was p.Gly384Arg in LAMP2; no mutations were found in RPGR.

    CONCLUSIONS: This is the first description of CRD in Danon disease. The retinal phenotype was a late onset but severe dystrophy characterized by loss of photoreceptors and RPE cells. With this report, we highlight the importance of a comprehensive ophthalmologic examination in the clinical work-up of Danon disease.

    Original languageEnglish
    Pages (from-to)769-74
    Number of pages6
    JournalGraefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
    Volume250
    Issue number5
    DOIs
    Publication statusPublished - May 2012

    Keywords

    • Aged
    • Electroretinography
    • Eye Proteins/genetics
    • Genotype
    • Glycogen Storage Disease Type IIb/diagnosis
    • Humans
    • Lysosomal-Associated Membrane Protein 2
    • Lysosome-Associated Membrane Glycoproteins/genetics
    • Male
    • Middle Aged
    • Mutation, Missense
    • Pedigree
    • Phenotype
    • Polymerase Chain Reaction
    • Retinitis Pigmentosa/diagnosis
    • Siblings
    • Tomography, Optical Coherence
    • Visual Acuity/physiology
    • Visual Field Tests

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