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Objective@#To quantitatively measure biological parameters of nanophthalmos and analyze the correlation between axial length (AL) and the other biological parameters.@*Methods@#The clinical data of 71 eyes of 43 patients identified with nanophthalmos (AL≤20 mm) from September 2012 to August 2018 in Zhongshan Ophthalmic Center were retrospectively analyzed.All enrolled patients underwent ophthalmological examinations including best-corrected visual acuity, refraction, slit-lamp biomicroscopy, fundus examination, Goldmann applanation tonometry, A-scan ultrasound examinations, ultrasound biomicroscopy, spectral domain optical coherence tomography (SD-OCT) and nonmydriatic fundus photography.Pearson correlation analysis was used to analyze the relationship between AL and all biological parameters.This study followed the Declaration of Helsinki and was approved by the Ethics Committee of Zhongshan Ophthalmic Center (NO.2017KYPJ092). All patients signed informed consent.@*Results@#Of the 43 patients, the average age was (46.00±12.75) years, the mean intraocular pressure was (24.97±14.87)mmHg (1 mmHg=0.133 kPa). The mean best corrected visual acuity was 1.14±0.79, the mean refraction was (11.61±4.09)D.The mean AL, central corneal thickness (CCT), central anterior chamber depth(ACD), anterior chamber width (ACW), len thickness(LT) and vitreous cavity length(VCL) was (17.13±1.57)mm, (550±60)μm, (1.64±0.37)mm, (11.17±0.61)mm, (5.01±0.51)mm and (10.10±1.80)mm, respectively.The average retinal nerve fiber layer thickness (mRNFLT), macular foveal retinal thickness (FRT) and subfoveal choroidal thickness (SFCT) was (98.51±40.93), (294.46±116.83) and (488.72±133.06)μm, respectively.The ratio of ACD to AL, LT to AL, and VCL to AL was 9.6%, 29.4% and 59.3%, respectively.The ACW and VCL were positively correlated with AL(r=0.432, 0.978; both at P<0.001); whereas, LT and FRT were negatively correlated with AL(r=-0.272, P=0.027; r=-0.679, P<0.001). There was no correlation between CCT, central ACD, mRNFLT, SFCT and AL (r=0.153, -0.053, -0.322, 0.063; all at P>0.05).@*Conclusions@#Nanophthalmos has the characteristics of narrow anterior and posterior segment structure.The ratio of LT to AL is increased and the ratio of VCL to AL is decreased.The AL is positively correlated with ACW and VCL, negatively correlated with LT and FRT.
ABSTRACT
Objective To quantitatively measure biological parameters of nanophthalmos and analyze the correlation between axial length ( AL) and the other biological parameters. Methods The clinical data of 71 eyes of 43 patients identified with nanophthalmos ( AL≤20 mm ) from September 2012 to August 2018 in Zhongshan Ophthalmic Center were retrospectively analyzed. All enrolled patients underwent ophthalmological examinations including best-corrected visual acuity,refraction,slit-lamp biomicroscopy,fundus examination,Goldmann applanation tonometry,A-scan ultrasound examinations, ultrasound biomicroscopy, spectral domain optical coherence tomography ( SD-OCT) and nonmydriatic fundus photography. Pearson correlation analysis was used to analyze the relationship between AL and all biological parameters. This study followed the Declaration of Helsinki and was approved by the Ethics Committee of Zhongshan Ophthalmic Center (NO. 2017KYPJ092). All patients signed informed consent. Results Of the 43 patients,the average age was (46. 00±12. 75) years,the mean intraocular pressure was (24. 97± 14. 87)mmHg (1 mmHg=0. 133 kPa). The mean best corrected visual acuity was 1. 14±0. 79,the mean refraction was (11.61±4.09)D. The mean AL,central corneal thickness (CCT),central anterior chamber depth(ACD), anterior chamber width (ACW),len thickness(LT) and vitreous cavity length(VCL) was (17. 13±1. 57)mm,(550± 60)μm,(1. 64±0. 37)mm,(11. 17±0. 61)mm,(5. 01±0. 51)mm and (10. 10±1. 80)mm,respectively. The average retinal nerve fiber layer thickness ( mRNFLT ) , macular foveal retinal thickness ( FRT ) and subfoveal choroidal thickness (SFCT) was (98. 51±40. 93),(294. 46±116. 83) and (488. 72±133. 06)μm,respectively. The ratio of ACD to AL, LT to AL, and VCL to AL was 9. 6％, 29. 4％ and 59. 3％, respectively. The ACW and VCL were positively correlated with AL(r=0. 432,0. 978;both at P<0. 001);whereas,LT and FRT were negatively correlated with AL(r=-0. 272,P=0. 027;r=-0. 679,P<0. 001). There was no correlation between CCT,central ACD, mRNFLT,SFCT and AL (r=0. 153,-0. 053,-0. 322,0. 063;all at P>0. 05). Conclusions Nanophthalmos has the characteristics of narrow anterior and posterior segment structure. The ratio of LT to AL is increased and the ratio of VCL to AL is decreased. The AL is positively correlated with ACW and VCL,negatively correlated with LT and FRT.
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Objective To analyze the BEST1 gene mutations and clinical features in patients with multifocal vitelliform retinopathy (MVR).Methods This is a retrospective case series study.Five MVR families with MVR,including 9 patients and 10 healthy family members were recruited.Clinical evaluations were performed in all MVR patients and their family members,including best-corrected visual acuity (BCVA),intraocular pressure (IOP),refraction,slit-lamp examination,90 D preset lens examination,gonioscopy,color fundus photography,optical coherence tomography (OCT),fundus autofluorescence (AF),ultrasound biomicroscopy (UBM) and axial length measurement.Electro-oculogram (EOG) was performed in 12 eyes and visual field were performed in 13 eyes.Peripheral blood samples were collected in all subjects to extract genomic DNA.Coding exons and flanking intronic regions of BEST 1 were amplified by polymerase chain reaction and analyzed by Sanger sequencing.Results Among the 5 MVR families,3 probands from three families had family history,including 1 family had autosomal dominant inheritance pattern.Two patients from 2 families were sporadic cases.Screening of BEST1 gene identified four mutations,including three missense mutations (c.140G＞T,p.R47L;c.232A＞T,p.I78F;c.698C＞T,p.P233L) and 1 deletion mutation (c.910_912del,p.D304del).Two mutations (p.R47L and p.I78F) were novel.The BCVA of affected eyes ranged from hand motion to 1.0.The mean IOP was (30.39± 11.86) mmHg (1 mmHg=0.133 kPa).The mean refractive diopter was (-0.33 ± 1.68) D.Twelve eyes had angle-closure glaucoma (ACG) and 4 eyes had angle closure (AC).EOG Arden ratio was below 1.55 in all patients.The mean anterior chamber depth was (2.17± 0.29) mm.Visual field showed defects varied from paracentral scotoma to diffuse defects.The mean axial length was (21.87± 0.63) mm.All MVR patients had multifocal vitelliform lesions in the posterior poles of retina.ACG eyes demonstrated pale optic disc with increased cup-to-disc ratio.OCT showed retinal edema,extensive serous retinal detachment and subretinal hyper-reflective deposits which had high autofluorescence in AF.The genetic testing and clinical examination were normal in 10 family members.Conclusions MVR patients harbored heterozygous mutation in the BEST1 gene.Two novel mutations (p.R47L and p.I78F) were identified.These patients had clinical features of multifocal vitelliform retinopathy and abnormal EOG.Most patients suffered from AC/ACG.