Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
| العنوان: | Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
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| المؤلفون: | Wilson A. Silva, Greice Andreotti de Molfetta, Salomão Faroj Chodraui-Filho, Ana Filipa Duarte, Antonio Augusto Velasco e Cruz, Alcina Toscano, Murilo Bicudo Cintra, Patricia Akaishi |
| المصدر: | Repositório Institucional da USP (Biblioteca Digital da Produção Intelectual) Universidade de São Paulo (USP) instacron:USP Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação instacron:RCAAP |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | 0301 basic medicine, Proband, Forkhead Box Protein L2, Male, Blepharophimosis/genetics, DNA Mutational Analysis, Alacrima, Eye Abnormalities/genetics, 0302 clinical medicine, Ptosis, Exons/genetics, Forkhead Transcription Factors/genetics, Eye Abnormalities, Child, Fisher's exact test, Gene Association Studies, Lacrimal Apparatus, Forkhead Transcription Factors, Anatomy, Exons, Forkhead box L2, medicine.anatomical_structure, CHLC OFT, Agenesis, Child, Preschool, symbols, Female, medicine.symptom, Urogenital Abnormalities/diagnostic imaging, Adult, medicine.medical_specialty, Adolescent, Lacrimal gland, Blepharophimosis, Slit Lamp Microscopy, 03 medical and health sciences, symbols.namesake, Ophthalmology, medicine, Humans, Genetic Association Studies, Skin Abnormalities/genetics, Tears/physiology, business.industry, Lacrimal Apparatus/abnormalities, Gene Amplification, Eye Abnormalities/diagnostic imaging, TOMOGRAFIA COMPUTADORIZADA POR RAIOS X, medicine.disease, Skin Abnormalities/diagnostic imaging, 030104 developmental biology, Cross-Sectional Studies, Urogenital Abnormalities/genetics, Tears, Urogenital Abnormalities, Blepharophimosis/diagnostic imaging, 030221 ophthalmology & optometry, Skin Abnormalities, business, Tomography, X-Ray Computed |
| الوصف: | PURPOSE: 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. info:eu-repo/semantics/acceptedVersion |
| تدمد: | 1549-4713 |
| URL الوصول: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4e80cf4b2d31befe6a8a49eb4e4b9f09 https://pubmed.ncbi.nlm.nih.gov/29055376 |
| Rights: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....4e80cf4b2d31befe6a8a49eb4e4b9f09 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 15494713 |
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