广东医学2017，Vol.38Issue(12)：1838-1841,4.
结晶样视网膜色素变性的OCT特点
OCT features of patients with Bietti′s crystalline dystrophy
摘要
Abstract
Objective To investigate the optical coherence tomography (OCT) features and genetic causes of 21 patients with Bietti′s crystalline dystrophy (BCD).Methods All 21 patients diagnosed of BCD (Jan, 2013 to Sep, 2016) were included with records of complete ophthalmologic examinations, including OCT.DNA was isolated from peripheral veinous blood.PCR and direct sequencing were used to detect possible pathogenic mutations in CYP4V2 gene.Results All patients had night blindness.Plenty of glistening intraretinal crystals were found scattered in posterior pole retina.Crystalline deposits on cornea were discovered only in 6 eyes of 3 patients.One eye in 1 patient experienced co-existence of BCD and chronic angle-closure glaucoma.Retinal hyperreflective dots were present in all 42 eyes in the OCT images.Outer retinal tubulations (ORT) were detected in 32 eyes of 17 patients;subretinal fibrovascular membrane was detected in only one eye;and epiretinal membranes were revealed in 3 eyes.Central retinal thickness decreased to some extent and the average thickness was (154.29±59.39)μm.Mean subfoveal choroidal thickness was (151.40±51.00)μm.CYP4V2 mutations, c.1091-2A>G, c.992A>C and c.802-8_810del17insGC, account for the genetic causes of the 21 BCD patients.Conclusion The atrophy of central retina and choroid and formation of ORT may be responsible for low vision in late stage patients with BCD.Exon 7-9 of CYP4V2 gene are the mutational hotspots of BCD.关键词
结晶样视网膜色素变性/OCT/CYP4V2基因Key words
Bietti′s crystalline dystrophy/OCT/CYP4V2引用本文复制引用
孙雯琦,李鹏程,彭冲,刘飞..结晶样视网膜色素变性的OCT特点[J].广东医学,2017,38(12):1838-1841,4.基金项目
湖北省自然科学基金资助项目(编号:2015CFB655) （编号:2015CFB655）
