Clinical and genetic features of a dominantly-inherited microphthalmia pedigree from China.
OBJECTIVE
To evaluate the clinical, histopathologic, and genetic characteristics of a microphthalmia pedigree.


METHODS
A five-generation Chinese family with microphthalmia was recruited. Clinical and histological examinations were performed in the affected patients and their family members. Cyrillic software was used to map the pedigree. Genomic DNA was extracted from peripheral blood, and linkage analysis was performed using short tandem repeat polymorphism markers. Two-point LOD scores were calculated using the MLINK program.


RESULTS
Microphthalmia was inherited in an autosomal dominant manner in this family. All nine affected members had hyperopia (mean: +8.00 diopters) and physiologically reduced axis oculi (mean: 19.29 mm) with a visual acuity of less than 0.5. Refractory angle-closure glaucoma occurred in three of them and atrophia bulbi in two. Histological examination showed diffuse degenerated collagen fibers in the scleral stroma. Two-point LOD score linkage analysis excluded all known genetic loci associated with simple microphthalmia in all patients.


CONCLUSIONS
Simple microphthalmia was dominantly inherited in this Chinese pedigree with typical phenotypes, which resulted in severe visual deterioration by middle age. A novel locus is predicted to be responsible for the microphthalmia in this family, which may prove a high genetic heterogeneity in microphthalmia.
Yu
Changhong
C
College of Medicine, Qingdao University, Qingdao, China.
Hu
Zhengmao
Z
Li
Jingzhi
J
Liu
Ting
T
Xia
Kun
K
Xie
Lixin
L
D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002681:China; D005190:Family; D005260:Female; D005799:Genes, Dominant; D006651:Histocytochemistry; D006801:Humans; D007621:Karyotyping; D008126:Lod Score; D008297:Male; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics*; D018895:Microsatellite Repeats; D008875:Middle Aged; D010375:Pedigree; D016133:Polymerase Chain Reaction