Atchaneeyasakul L O, Linck L, Weleber R G
Department of Ophthalmology, Oregon Health Sciences University, Portland, USA.
Ophthalmic Genet. 1998 Mar;19(1):39-48. doi: 10.1076/opge.19.1.39.2178.
To describe the ophthalmologic findings and electroretinograms in patients with microcephaly and chorioretinal degeneration.
We reviewed the hospital records of 20 patients with microcephaly that was not part of a recognizable syndrome prior to initial referral to the institutional consultative practice of one of the authors (RGW). Twelve patients, all from separate families, were diagnosed as having microcephaly with chorioretinopathy. Ten of these patients had ISCEV-standard electroretinograms (ERG).
No family history of microcephaly or retinal degeneration was found in any of our patients. Three patients had another family member with mental retardation. Three of the 12 were compatible with the autosomal dominant form of microcephaly with chorioretinopathy (MIM 156590), possibly as a new mutation. Eight patients, who had fundus findings of retinitis pigmentosa, were similar to the autosomal recessive form of microcephaly with chorioretinal degeneration (MIM 251270). The ERGs were moderately to severely subnormal for responses of both rods and cones. The retinal findings varied from no pigmentary changes, pigment clumping and bone spicules, pigmentary granularity, bull's eye maculopathy, choroidal and retinal atrophy, to lacunar depigmentation. Mental retardation was mild to profound. The abnormal findings from MRI/ CT brain scans (8 patients) were cerebellar atrophy (2), agenesis of cerebellar vermis (1), cortical atrophy (1), and pachygyria (1). Dysmorphic features were present in most patients. Chromosome studies were normal, except for one patient with ring chromosome 14.
Although the patients reviewed in this study represent a heterogeneous group of disorders, ocular abnormalities, especially retinal degeneration, are frequent among patients with microcephaly.
描述小头畸形合并脉络膜视网膜变性患者的眼科检查结果及视网膜电图。
我们回顾了20例小头畸形患者的医院记录，这些患者在最初转诊至作者之一（RGW）的机构咨询门诊之前，不属于可识别的综合征。其中12例患者，均来自不同家庭，被诊断为小头畸形合并脉络膜视网膜病变。这12例患者中有10例进行了国际临床视觉电生理学会（ISCEV）标准的视网膜电图（ERG）检查。
我们的患者均无小头畸形或视网膜变性的家族史。3例患者有另一名家庭成员患有智力障碍。12例患者中有3例符合常染色体显性遗传型小头畸形合并脉络膜视网膜病变（MIM 156590），可能是新发突变。8例眼底表现为色素性视网膜炎的患者，类似于常染色体隐性遗传型小头畸形合并脉络膜视网膜变性（MIM 251270）。视网膜电图显示，视杆和视锥细胞反应中度至重度异常。视网膜表现从无色素改变、色素团块和骨针状改变、色素颗粒状、黄斑靶心病变、脉络膜和视网膜萎缩到腔隙性色素脱失不等。智力障碍程度从轻度到重度。8例患者的头颅磁共振成像/计算机断层扫描（MRI/CT）异常表现为小脑萎缩（2例）、小脑蚓部发育不全（1例）、皮质萎缩（1例）和巨脑回（1例）。大多数患者存在畸形特征。除1例患有14号环状染色体的患者外，染色体研究均正常。
尽管本研究中回顾的患者代表了一组异质性疾病，但眼部异常，尤其是视网膜变性，在小头畸形患者中很常见。
