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Abstract #13585 Published in IGR 8-2
Genetic propensity of physiologic large cups
Zhang Y-Y; Sun X-H; Zuo J; Ji X-C; Ye WFudan University Journal of Medical Sciences 2006; 33: 60-62
PURPOSE: To investigate the genetic propensity of physiologic large cups. METHODS: C/D values were examined among family members of indices with physiologic large cups. To ensure reliability, examinations on subjects were conducted by the same investigator using ophthalmoscope. Prevalence of physiologic large cup was assessed. Pedigree analysis was employed to investigate the hereditary mode of physiologic large cup. RESULTS: 1. Of the total 165 subjects including indices and family members, 115 (69.7%) had physiologic large cup. 2. Family structure investigation was conducted among 56 physiologic large cup indices. And 53.9% of the first degree relatives and 57.1% of the second degree relatives had physiologic large cup. 3. Descriptive analyses were performed on parents of 46 physiologic large cup indices. Of 46 families, 6 (13%) families had both parents having physiologic large cup, 6 (13%) families had neither parent having physiologic large cup, 15 (32.6%) families had the father but not the mother having physiologic large cup, and 19 (41.3%) families had the mother but not the father having physiologic large cup. Of the total 137 subjects including indices and their first-degree and second-degree parents, 92 (67.2%) had physiologic large cup. Of 46 physiologic large cup parents, 45.7% were the father of the index and 54.3% were the mother of the index having the physiologic large cup. CONCLUSIONS: Genetic factors possibly contributed to physiologic large cup sus-ceptibility. The mode of inheritance is likely to be autosomal dominant. LA: Chinese
Dr. Y.-Y. Zhang, Department of Ophthalmology, Huashan Hospital, Fudan University, Shanghai 200040, China
Classification:
2.14 Optic disc (Part of: 2 Anatomical structures in glaucoma)
3.4.1 Linkage studies (Part of: 3 Laboratory methods > 3.4 Molecular genetics)