Luscan-Lumish syndrome:A case report  

作　　者：Bogumiła Wójcik-Niklewska Erita Filipek 

机构地区：[1]Department of Pediatric Ophtalmology,Faculty of Medical Sciences in Katowice,Medical University of Silesia in Katowice,Katowice 40-514,Silesia,Poland [2]Kornel Gibiński University Clinical Centre,Medical University of Silesia in Katowice,Katowice 40-514,Silesia,Poland

出　　处：《World Journal of Clinical Cases》2025年第18期29-33,共5页世界临床病例杂志(英文)

摘　　要：BACKGROUND Luscan-Lumish syndrome(LLS)is a rare genetic congenital anomaly syndrome characterised by neurodevelopmental disorders,including delayed psychomotor development,behavioral difficulties,relative or true macrocephaly and,in individual cases,ocular abnormalities.This paper aims to present the case of a child with ocular abnormalities associated with LLS.CASE SUMMARY A 10-year-old girl born at 40 weeks gestation with features of dysmorphia,neurodevelopmental disorders,genetically confirmed LLS,convergent strabismus and suspected congenital glaucoma.Eye examination,ultrasound,optical coherence tomography(OCT),perimetry and electrophysiological study[pattern visually evoked potentials(VEP)]were performed.Best-corrected distance visual acuity was 0.5 in the right eye(correction-1.0 Dsph,-1.0 Dcyl,axis 180°)and 0.62 in the left eye(correction-2.0 Dsph).Near visual acuity(Snellen Chart)with the above correction was-0.5 D.A cycloplegic refraction test yielded-1.25 Dsph,-1.25 Dcyl,axis 165°in the right eye,and-2.0 Dsph,-0.25 Dcyl,axis 154°in the left eye.Intraocular pressure was 15 mmHg in both eyes.OCT of the maculae showed no abnormalities.In both eyes,the average ganglion cell layer and inner plexiform layer thickness was 73μm.OCT of the optic nerve disc showed an average retinal nerve fibre layer thickness of 89μm in the right eye and 81μm in the left eye,with symmetry of 90%.The rim area was 1.59 mm^(2) and 1.74 mm^(2) in the right and left eye,respectively.The disc area was 2.77 mm^(2) in the right eye and 2.89 mm^(2) in the left.The average cup-to-disc ratio was 0.64 in the right eye and 0.62 in the left eye.Ocular ultrasound depicted single extra echoes inside the vitreous chamber;otherwise,there were no abnormalities.Right and left eyeball lengths were 24.59 mm and 24.51 mm,respectively.Kinetic perimetry revealed no visual field defects,while static testing showed single relative scotomas.The mean defect was 4.7 dB in the right and 2.6 dB in the left eye.The loss variance values were 4.8 and 3.8 dB

关 键 词：Luscan-Lumish syndrome SETD2 CHILDREN OPHTHALMOLOGY Case report 

分 类 号：TP3[自动化与计算机技术—计算机科学与技术]