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Abstract #21649 Published in IGR 10-3
Analysis of clinical phenotype and mode of inheritance of POAG family in Chongqing, China
Li S-H; He X-G; Xu J-T; Cheng H-LInternational Journal of Ophthalmology 2008; 8: 948-950
AIM: To explore the clinical characteristic and mode of inheritance of POAG. METHODS: Proband with POAG and all of family members were followed up and evaluated by detailed history and physical examination and ophthalmological routine examination. RESULTS: This pedigree consisted of 54 individuals extending through five generations: 29 males, 25 females. Seventeen individuals had been diagnosed POAG including 11 males and 6 females, in whom six cases died. Their final diagnosis ages were 28-64 years old, with the average of 38.6 years old. Their onset intraocular pressures (IOP) were 25-39 mmHg (average 31.63 ± 5.14 mmHg). Visual acuity and visual field in seven individuals with POAG who had been treated still aggravated progressively. CONCLUSION: This family should be diagnosed as youth POAG, and conventional therapy is ineffective. There are other pathogenic factors apart from mechanical pressure. Pedigree analysis suggests that POAG cases in this family are autosome dominant heredity, and that the allele mutation induces the onset of POAG in this family. LA: Chinese
Dr. X.-G. He, Department of Ophthalmology, Daping Hospital, The Third Military Medical University, Chongqing 400042, China. Xiangge_he@hotmail.com
Classification:
3.4 Molecular genetics (Part of: 3 Laboratory methods)
