Bitoun Pierre, Pipiras Eva, Rigaudiere Florence
Génétique Médicale, Hôpital Jean Verdier AP-HP, C.H.U. Paris Nord, Bondy, France.
Ophthalmic Genet. 2012 Mar;33(1):39-43. doi: 10.3109/13816810.2011.596892. Epub 2011 Aug 11.
Macular dystrophy is a cause of childhood and adult visual handicap and has been associated with multiple gene defects. Syndromic macular dystrophy is rare and a novel congenital form of syndromic macular dystrophy is presented. The authors report on a consanguineous family in which the 5-year-old female proband presented with nystagmus and low vision due to congenital macular dystrophy visible on fundus examination associated with complete corpus callosum agenesis, hippocampi hypoplasia and recurrent illnesses.
Patients signed informed consent forms to participate in the research. Proband was screened for 18 recessive macular dystrophy genes and ABCA4 and had a G banded karyotype on peripheral blood lymphocytes. Patients were evaluated using ocular biomicrosopy, fluorescein retinal angiograms, electroretinograms, visual evoked potentials, retinal optical coherence tomography, brain MRI and multifocal electroretinograms.
The older brother presented with subclinical findings of bilateral absence of foveal macular peak on multifocal electroretinograms and minimal corpus callosum hypoplasia. The younger sister was recently discovered to have a similar macular dystrophy. The father showed subclinical unilateral decreased foveal macular peak and the mother showed a granular-appearing fundus. No mutations were identified in the RP and macular dystrophy genes screened.
A review of the literature confirms that this is the first report of a congenital and possibly developmental macular dystrophy, with neurologic syndromic features and possible autosomal recessive inheritance but varying penetrance.
黄斑营养不良是儿童和成人视力障碍的一个病因，且与多种基因缺陷相关。综合征性黄斑营养不良较为罕见，本文报道了一种新型的先天性综合征性黄斑营养不良。作者报告了一个近亲家庭，该家庭中5岁的女性先证者因先天性黄斑营养不良在眼底检查中可见，伴有完全性胼胝体发育不全、海马体发育不全和反复患病，出现了眼球震颤和视力低下的症状。
患者签署知情同意书以参与研究。对先证者进行了18种隐性黄斑营养不良基因和ABCA4的筛查，并对其外周血淋巴细胞进行了G带核型分析。使用眼科生物显微镜、荧光素视网膜血管造影、视网膜电图、视觉诱发电位、视网膜光学相干断层扫描、脑部MRI和多焦视网膜电图对患者进行评估。
哥哥在多焦视网膜电图上表现为双侧中央凹黄斑峰值缺失的亚临床症状，胼胝体发育不全程度较轻。妹妹最近被发现患有类似的黄斑营养不良。父亲表现为亚临床单侧中央凹黄斑峰值降低，母亲表现为眼底呈颗粒状。在所筛查的视网膜色素变性和黄斑营养不良基因中未发现突变。
文献综述证实，这是首例关于先天性且可能为发育性黄斑营养不良的报告，具有神经综合征特征，可能为常染色体隐性遗传，但外显率有所不同。
