A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene

被引：25

作者：

Testa, F. ^{[1
]}

Rossi, S. ^{[1
]}

Passerini, I. ^{[2
]}

Sodi, A. ^{[3
]}

Di Iorio, V. ^{[1
]}

Interlandi, E. ^{[1
]}

Della Corte, M. ^{[1
]}

Menchini, U. ^{[3
]}

Rinaldi, E. ^{[1
]}

Torricelli, F.

Simonelli, F. ^{[1
]}

机构：

[1] Univ Naples 2, Dept Ophthalmol, Naples, Italy

[2] Azienda Osped Careggi, Cytogenet & Genet Unit, Florence, Italy

[3] Univ Florence, Dept Ophthalmol, Florence, Italy

来源：

BRITISH JOURNAL OF OPHTHALMOLOGY | 2008年 / 92卷 / 11期

关键词：

D O I：

10.1136/bjo.2008.143776

中图分类号：

R77 [眼科学];

学科分类号：

100212 ;

摘要：

Aims: To describe clinical and genetic findings in an Italian family affected by Best disease. Methods: Five related patients underwent a complete ophthalmological assessment; genetic testing was performed by single-strand conformation polymorphism analysis and direct sequencing of the BEST1 gene. Results: In three of five family members, the sequence analysis of the BEST1 gene revealed a single Phe-to-Leu transition at nucleotide 305 associated with clinical evidence of Best disease. Surprisingly, the electro-oculogram was normal in all affected patients. Conclusion: This study reveals a de novo mutation in the BEST1 gene never described before, sustaining the autosomal-dominant pattern of inheritance of the disease. Clinical evaluation showed phenotypic variability between affected members. In addition, these data suggest that a normal electro-oculography (EOG) does not rule out a diagnosis of Best disease, supporting instead the crucial role of molecular analysis.

引用

页码：1467 / 1470

页数：4

共 24 条

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[2]

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