Department of Ophthalmology, Erasmus Medical Center, P.O. Box 2040, NL-3000 CA, Rotterdam, Netherlands.
Graefes Arch Clin Exp Ophthalmol. 2012 May;250(5):769-74. doi: 10.1007/s00417-011-1857-8.
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.
Danon 病是一种神经肌肉疾病，眼部表现存在变异性。我们描述了一个患有 Danon 病和 Cone-Rod 营养不良（CRD）的家族。
我们邀请了一个患有 Danon 病的家族中的受影响男性进行广泛的眼科检查，包括色觉测试、眼底照相、Goldmann 视野计、全视野视网膜电图（ERG）和 SD-OCT。从病历中检索了先前的眼科数据。通过直接测序分析了 LAMP2 和 RPGR 基因。
两个兄弟姐妹没有眼部表型。第三个兄弟和一个表亲患有导致法律失明的 CRD。视力随时间逐渐恶化，色觉严重受损，ERG 显示明、暗适应反应减弱。SD-OCT 显示光感受器和 RPE 层变薄。视野显示中心暗点。致病突变是 LAMP2 中的 p.Gly384Arg；未在 RPGR 中发现突变。
这是 Danon 病中首次描述 CRD。视网膜表型为迟发性但严重的营养不良，特征为光感受器和 RPE 细胞丧失。通过本报告，我们强调了在 Danon 病的临床评估中进行全面眼科检查的重要性。
