Cone-rod dystrophy can be a manifestation of Danon disease
Open accessAbstract
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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Alternative splicing of LAMP2 results in three isoforms, LAMP2a, LAMP2b, and LAMP2c; patients with mutant LAMP2b and LAMP2c have milder phenotypes, whereas those with LAMP2a present with severe disease.
“Alternative splicing of LAMP2 results in three isoforms, LAMP2a, LAMP2b, and LAMP2c. Patients with mutant LAMP2b and LAMP2c have milder phenotypes, whereas those with LAMP2a present with severe disease (Thiadens et al., 2012).”
From The cell biology of the retinal pigment epithelium (2020) · cites this paper as Thiadens et al., 2012
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ISCEV Standard for full-field clinical electroretinography (2008 update)
Marmor, M. F., Fulton, A. B., Holder, G. E., Miyake, Y., Brigell, M., & Bach, M. (2008) · Documenta Ophthalmologica · doi:10.1007/s10633-008-9155-4 · Cited by 1,004 · see citing works
Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy
Maron, B. J. (2009) · JAMA · doi:10.1001/jama.2009.371 · Cited by 343 · see citing works
Ophthalmic Manifestations of Danon Disease
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EXTENSION OF THE CLINICAL SPECTRUM OF DANON DISEASE
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Charcot–Marie–Tooth features and maculopathy in a patient with Danon disease
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The cell biology of the retinal pigment epithelium
Lakkaraju, A., Umapathy, A., Tan, L. X., Daniele, L., Philp, N. J., Boesze-Battaglia, K., & Williams, D. S. (2020) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2020.100846 · Cited by 422 · see citing works
Notomi, S., Ishihara, K., Efstathiou, N. E., Lee, J.-J., Hisatomi, T., Tachibana, T., Konstantinou, E. K., Ueta, T., Murakami, Y., Maidana, D. E., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1906643116 · Cited by 92 · see citing works
The physiology of the retinal pigment epithelium in Danon disease
Thompson, D. A., Constable, P. A., Liasis, A., Walters, B., & Esteban, M. T. (2016) · Retina · doi:10.1097/iae.0000000000000736 · Cited by 31 · see citing works
- Authors
- Thiadens, A. A. H. J., Slingerland, N. W. R., Florijn, R. J., Visser, G. H., Riemslag, F. C., & Klaver, C. C. W.
- Affiliations
- Erasmus MC (NL)
- Netherlands Institute for Neuroscience (NL)
- Rotterdam Eye Hospital (NL)
- Corresponding author
- Thiadens, Alberta A. H. J.
- Venue
- Graefe s Archive for Clinical and Experimental Ophthalmology
- Published
- 2012-01-31
- Volume
- 250
- Issue
- 5
- Pages
- 769-774
- ISSN
- 0721-832X (ISSN-L)
- 1435-702X
- PMC
- PMC3332371
- OpenAlex
- W2015118411
- Cited by
- 36
- References
- 9
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 2 · 2023: 2 · 2022: 2 · 2021: 3 · 2020: 5 · 2019: 6 · 2018: 1 · 2017: 2 · 2016: 2 · 2015: 2 · 2014: 3 · 2013: 1 · 2012: 1
- FWCI
- 0.90
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Licence
- cc-by
- Locations
- Graefe s Archive for Clinical and Experimental Ophthalmology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- EUR Research Repository (Erasmus University Rotterdam) (submittedVersion, other-oa)
- RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
- Data Archiving and Networked Services (DANS) (submittedVersion)
- KNAW Research Portal (The Royal Netherlands Academy of Arts and Sciences) (submittedVersion)
- Funders
- Algemene Nederlandse Vereniging ter voorkoming van Blindheid
- Landelijke Stichting voor Blinden en Slechtzienden
- Stichting Nederlands Oogheelkundig Onderzoek
- Stichting Blinden-Penning
- Stichting Blindenhulp
- Stichting tot Verbetering van het Lot der Blinden
- Stichting Wetenschappelijk Onderzoek Oogziekenhuis
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Retinal Development and Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Health Sciences › Medicine › Ophthalmology › Retinal Diseases and Treatments
- Keywords
- cone-rod dystrophy, Danon disease, LAMP2, RPGR, retinal dystrophy, photoreceptor degeneration, retinal pigment epithelium, color vision loss, central scotoma, electroretinogram, ophthalmologic examination
- MeSH terms
- Aged, Electroretinography, Eye Proteins, Genotype, Humans, Male, Middle Aged, Pedigree, Phenotype, Retinitis Pigmentosa, Visual Acuity, Polymerase Chain Reaction, Mutation, Missense, Siblings, Tomography, Optical Coherence, Lysosomal Membrane Proteins, Lysosomal-Associated Membrane Protein 2, Glycogen Storage Disease Type IIb, Visual Field Tests
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