Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China

[摘要] Purpose: To evaluate the clinical,histopathologic, and genetic characteristics of a microphthalmiapedigree. Methods: A five-generation Chinesefamily with microphthalmia was recruited. Clinical and histologicalexaminations were performed in the affected patients and their familymembers. Cyrillic software was used to map the pedigree. Genomic DNAwas extracted from peripheral blood, and linkage analysis was performedusing short tandem repeat polymorphism markers. Two-point LOD scoreswere calculated using the MLINK program. Results: Microphthalmia was inherited inan autosomal dominant manner in this family. All nine affected membershad hyperopia (mean: +8.00 diopters) and physiologically reduced axisoculi (mean: 19.29 mm) with a visual acuity of less than 0.5.Refractory angle-closure glaucoma occurred in three of them andatrophia bulbi in two. Histological examination showed diffusedegenerated collagen fibers in the scleral stroma. Two-point LOD scorelinkage analysis excluded all known genetic loci associated with simplemicrophthalmia in all patients. Conclusions: Simple microphthalmia wasdominantly inherited in this Chinese pedigree with typical phenotypes,which resulted in severe visual deterioration by middle age. A novellocus is predicted to be responsible for the microphthalmia in thisfamily, which may prove a high genetic heterogeneity in microphthalmia.

[学科分类] 生物化学/生物物理