Journal
GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY
Volume 250, Issue 5, Pages 769-774Publisher
SPRINGER
DOI: 10.1007/s00417-011-1857-8
Keywords
Cone-rod dystrophy; LAMP2 gene; Genotype-phenotype correlations; RPE pathology; Danon disease
Categories
Funding
- Nijmeegse Oogonderzoek Stichting, Stichting Wetenschappelijk Onderzoek Oogziekenhuis (SWOO)
- The Rotterdam Eye Hospital
- Macula Degeneratie Fonds (MD Fonds)
- Algemene Nederlandse Vereniging ter Voorkoming van Blindheid (ANVVB)
- Gelderse Blinden Stichting
- Landelijke Stichting voor Blinden en Slechtzienden (LSBS)
- Stichting Blindenhulp
- Stichting Blinden-penning, Stichting Nederlands Oogheelkundig Onderzoek (SNOO)
- Stichting Ondersteuning Oogheelkunde's-Gravenhage (OOG)
- Stichting ter Verbetering van het Lot der Blinden
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Danon disease is a neuromuscular disorder with variable expression in the eye. We describe a family with Danon disease and cone-rod dystrophy (CRD). 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. 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. 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.
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