Microcephaly with chorioretinal degeneration

被引:17
作者
Atchaneeyasakul, LO [1 ]
Linck, L [1 ]
Weleber, RG [1 ]
机构
[1] Oregon Hlth & Sci Univ, Dept Ophthalmol, Portland, OR 97201 USA
关键词
microcephaly; retinitis pigmentosa; chorioretinal degeneration; autosomal dominant inheritance; autosomal recessive inheritance;
D O I
10.1076/opge.19.1.39.2178
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Purpose: To describe the ophthalmologic findings and electroretinograms in patients with microcephaly and chorioretinal degeneration. Methods: 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). Results: 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. Conclusions: Although the patients reviewed in this study represent a heterogeneous group of disorders, ocular abnormalities, especially retinal degeneration, are frequent among patients with microcephaly.
引用
收藏
页码:39 / 48
页数:10
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