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Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome

2016-11-30Journal article Open access
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dc.contributor.authorDuarte, AF
dc.contributor.authorAkaishi, P
dc.contributor.authorMolfetta, G
dc.contributor.authorChodraui-Filho, S
dc.contributor.authorCintra, M
dc.contributor.authorToscano, A
dc.contributor.authorAraujo Silva, W
dc.contributor.authorA v Cruz, A
dc.date.accessioned2017-01-09T13:29:10Z
dc.date.available2017-01-09T13:29:10Z
dc.date.issued2016-11-30
dc.description.abstractPURPOSE: To describe the involvement of the lacrimal gland (LG) in blepharophimosis-ptosis-epicanthus inversus syndrome (BPES). DESIGN: Observational, cross-sectional study. PARTICIPANTS: Twenty-one patients with BPES (10 female, 11 male) aged on average 15 years (range, 2-39 years), from 3 Brazilian medical centers and 1 Portuguese medical center. METHODS: Patients had their ocular surface evaluated with slit-lamp biomicroscopy, and tear production quantified with the Schirmer test I. The LG volumes were measured on computed tomography (CT) scans in the BPES sample and in a group of age-matched subjects imaged for nonorbital diseases. Sixteen patients were screened for mutations in the FOXL2 gene. MAIN OUTCOME MEASURES: Lacrimal meniscus height, Schirmer test I, presence of superficial punctate keratopathy (SPK), LG volume, and molecular analysis of the FOXL2 gene. RESULTS: Absence of LG was detected bilaterally in 9 patients (42.8%) and unilaterally in 2 patients (9.5%). When considering only patients with measurable LG, the median volume was 0.22 cm3 in the right eye (range, 0.06-0.36 cm3) and 0.24 cm3 in the left eye (range, 0.08-0.34 cm3). These values were significantly lower than those for the age-matched controls (median = 0.54 right eye and 0.53 left eye; P < 0.05). There was a significant association between deficiency of tear production and LG volume reduction and agenesis. Molecular analysis of the FOXL2 gene revealed the presence of 8 distinct mutations, 4 of them novel ones. A significant reduction of LG size or agenesis was associated with mutations affecting protein size (due to underlying changes in the stop codon location) or the DNA-binding forkhead domain (Fisher exact test, P = 0.021). In 3 probands, the underlying genetic defect was not found. CONCLUSIONS: This is the first study reporting LG volumes in BPES, describing a significant number of patients with LG agenesis. The association between alacrima and BPES is not incidental, and a thorough evaluation of tear production is recommended especially if ptosis surgery is planned.pt_PT
dc.description.versioninfo:eu-repo/semantics/acceptedVersionpt_PT
dc.identifier.citationOphthalmology. 2017 Mar;124(3):399-406pt_PT
dc.identifier.doi10.1016/j.ophtha.2016.10.028pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/2597
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherElsevierpt_PT
dc.subjectCHLC OFTpt_PT
dc.subjectBlepharophimosis/diagnostic imagingpt_PT
dc.subjectBlepharophimosis/geneticspt_PT
dc.subjectCross-Sectional Studies
dc.subjectDNA Mutational Analysis
dc.subjectExons/genetics
dc.subjectEye Abnormalities/diagnostic imaging
dc.subjectEye Abnormalities/genetics
dc.subjectForkhead Transcription Factors/genetics
dc.subjectGene Amplification
dc.subjectGene Association Studies
dc.subjectLacrimal Apparatus/abnormalities
dc.subjectSkin Abnormalities/diagnostic imaging
dc.subjectSkin Abnormalities/genetics
dc.subjectSlit Lamp Microscopy
dc.subjectTears/physiology
dc.subjectTomography, X-Ray Computed
dc.subjectUrogenital Abnormalities/diagnostic imaging
dc.subjectUrogenital Abnormalities/genetics
dc.titleLacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndromept_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.titleOphthalmologypt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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