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

doi:10.1007/s00417-011-1857-8

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 journal › Article › Research › peer-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 language	English
Pages (from-to)	769-74
Number of pages	6
Journal	Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
Volume	250
Issue number	5
DOIs	https://doi.org/10.1007/s00417-011-1857-8
Publication status	Published - 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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10.1007/s00417-011-1857-8

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Thiadens, A. A. H. J., Slingerland, N. W. R., Florijn, R. J., Visser, G. H., Riemslag, F. C., & Klaver, C. C. W. (2012). Cone-rod dystrophy can be a manifestation of Danon disease. Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, 250(5), 769-74. https://doi.org/10.1007/s00417-011-1857-8

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title = "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.",

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",

author = "Thiadens, {Alberta A H J} and Slingerland, {Niki W R} and Florijn, {Ralph J} and Visser, {Gerhard H} and Riemslag, {Frans C} and Klaver, {Caroline C W}",

year = "2012",

month = may,

doi = "10.1007/s00417-011-1857-8",

language = "English",

volume = "250",

pages = "769--74",

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Cone-rod dystrophy can be a manifestation of Danon disease. / Thiadens, Alberta A H J; Slingerland, Niki W R; Florijn, Ralph J et al.
In: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie, Vol. 250, No. 5, 05.2012, p. 769-74.

Research output: Contribution to journal › Article › Research › peer-review

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 - Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

JF - Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

IS - 5

ER -

Cone-rod dystrophy can be a manifestation of Danon disease

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Keywords

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