TY - JOUR
T1 - Cone-rod dystrophy can be a manifestation of Danon disease
AU - Thiadens, Alberta A H J
AU - Slingerland, Niki W R
AU - Florijn, Ralph J
AU - Visser, Gerhard H
AU - Riemslag, Frans C
AU - Klaver, Caroline C W
PY - 2012/5
Y1 - 2012/5
N2 - 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.
AB - 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.
KW - Aged
KW - Electroretinography
KW - Eye Proteins/genetics
KW - Genotype
KW - Glycogen Storage Disease Type IIb/diagnosis
KW - Humans
KW - Lysosomal-Associated Membrane Protein 2
KW - Lysosome-Associated Membrane Glycoproteins/genetics
KW - Male
KW - Middle Aged
KW - Mutation, Missense
KW - Pedigree
KW - Phenotype
KW - Polymerase Chain Reaction
KW - Retinitis Pigmentosa/diagnosis
KW - Siblings
KW - Tomography, Optical Coherence
KW - Visual Acuity/physiology
KW - Visual Field Tests
U2 - 10.1007/s00417-011-1857-8
DO - 10.1007/s00417-011-1857-8
M3 - Article
C2 - 22290069
SN - 0065-6100
VL - 250
SP - 769
EP - 774
JO - Albrecht von Graefes Archiv für Klinische und Experimentelle Ophthalmologie
JF - Albrecht von Graefes Archiv für Klinische und Experimentelle Ophthalmologie
IS - 5
ER -