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Publication
Lacrimal Gland Involvement in Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
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Advisor(s)
Abstract(s)
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.
Description
Keywords
CHLC OFT Blepharophimosis/diagnostic imaging Blepharophimosis/genetics Cross-Sectional Studies DNA Mutational Analysis Exons/genetics Eye Abnormalities/diagnostic imaging Eye Abnormalities/genetics Forkhead Transcription Factors/genetics Gene Amplification Gene Association Studies Lacrimal Apparatus/abnormalities Skin Abnormalities/diagnostic imaging Skin Abnormalities/genetics Slit Lamp Microscopy Tears/physiology Tomography, X-Ray Computed Urogenital Abnormalities/diagnostic imaging Urogenital Abnormalities/genetics
Citation
Ophthalmology. 2017 Mar;124(3):399-406