Cone-rod dystrophy can be a manifestation of Danon disease
- PMID: 22290069
- PMCID: PMC3332371
- DOI: 10.1007/s00417-011-1857-8
Cone-rod dystrophy can be a manifestation of Danon disease
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.
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Comment in
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Cone-rod dystrophy in Danon disease.Graefes Arch Clin Exp Ophthalmol. 2012 May;250(5):633. doi: 10.1007/s00417-012-1936-5. Epub 2012 Mar 10. Graefes Arch Clin Exp Ophthalmol. 2012. PMID: 22407291 No abstract available.
References
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