OCT features of patients with Bietti′s crystalline dystrophy
SUN Wen-qi
LI Peng-cheng
PENG Chong
LIU Fei
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.
Keywords：Bietti′s crystalline dystrophyOCTCYP4V2
Publication Date：2017-01-01
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 1838-1841 )