Pennings Ronald J E, Huygen Patrick L M, Orten Dana J, Wagenaar Mariette, van Aarem Annelies, Kremer Hannie, Kimberling William J, Cremers Cor W R J, Deutman August F
Department of Ophthalmology, University Medical Centre St Radboud, Nijmegen, The Netherlands.
Acta Ophthalmol Scand. 2004 Apr;82(2):131-9. doi: 10.1111/j.1600-0420.2004.00234.x.
To evaluate visual impairment in Usher syndrome 1b (USH1b) and Usher syndrome 2a (USH2a).
We carried out a retrospective study of 19 USH1b patients and 40 USH2a patients. Cross-sectional regression analyses of the functional acuity score (FAS), functional field score (FFS) and functional vision score (FVS) related to age were performed. Statistical tests relating to regression lines and Student's t-test were used to compare between (sub)groups of patients. Parts of the available individual longitudinal data were used to obtain individual estimates of progressive deterioration and compare these to those obtained with cross-sectional analysis. Results were compared between subgroups of USH2a patients pertaining to combinations of different types of mutations.
Cross-sectional analyses revealed significant deterioration of the FAS (0.7% per year), FFS (1.0% per year) and FVS (1.5% per year) with advancing age in both patient groups, without a significant difference between the USH1b and USH2a patients. Individual estimates of the deterioration rates were substantially and significantly higher than the cross-sectional estimates in some USH2a cases, including values of about 5% per year (or even higher) for the FAS (age 35-50 years), 3-4% per year for the FFS and 4-5% per year for the FVS (age > 20 years). There was no difference in functional vision score behaviour detected between subgroups of patients pertaining to different biallelic combinations of specific types of mutations.
The FAS, FFS and FVS deteriorated significantly by 0.7-1.5% per year according to cross-sectional linear regression analysis in both USH1b and USH2a patients. Higher deterioration rates (3-5% per year) in any of these scores were attained, according to longitudinal data collected from individual USH2a patients. Score behaviour was similar across the patient groups and across different biallelic combinations of various types of mutations. However, more elaborate studies, preferably covering longitudinal data, are needed to obtain conclusive evidence.
评估1b型Usher综合征（USH1b）和2a型Usher综合征（USH2a）患者的视力损害情况。
我们对19例USH1b患者和40例USH2a患者进行了一项回顾性研究。对与年龄相关的功能视力评分（FAS）、功能视野评分（FFS）和功能视觉评分（FVS）进行横断面回归分析。使用与回归线相关的统计检验和学生t检验对患者（亚）组进行比较。部分可用的个体纵向数据用于获得个体渐进性恶化的估计值，并将其与横断面分析获得的估计值进行比较。对USH2a患者不同类型突变组合的亚组结果进行了比较。
横断面分析显示，两组患者的FAS（每年0.7%）、FFS（每年1.0%）和FVS（每年1.5%）均随年龄增长而显著恶化，USH1b和USH2a患者之间无显著差异。在一些USH2a病例中，个体恶化率估计值显著高于横断面估计值，包括FAS（35 - 50岁）约为每年5%（甚至更高）、FFS为每年3 - 4%、FVS（年龄>20岁）为每年4 - 5%。在与特定类型突变的不同双等位基因组合相关的患者亚组之间，未检测到功能视觉评分行为的差异。
根据横断面线性回归分析，USH1b和USH2a患者的FAS、FFS和FVS每年分别显著恶化0.7 - 1.5%。根据从个体USH2a患者收集的纵向数据，这些评分中的任何一项都达到了更高的恶化率（每年3 - 5%）。患者组之间以及不同类型突变的不同双等位基因组合之间的评分行为相似。然而，需要更详尽的研究，最好涵盖纵向数据，以获得确凿证据。
