Weill-Marchesani syndrome, a connective tissue disorder associated with autosomal recessive or dominant inheritance, was first described by Weill in 1932 and Marchesani in 1939.1,2 This syndrome is characterized by short stature, joint stiffness, cardiological anomalies, brachydactyly, brachycephaly, and ocular abnormalities including microspherophakia (84%), myopia (94%), ectopia lentis (73%), cataract (23%), and glaucoma.1–3 A wide range of Weill-Marchesani-like or incomplete syndromes have been described.4,5 We present the use of extended-depth spectral-domain optical coherence tomography (SD-OCT) to characterize ocular features of the Weill-Marchesani syndrome in a patient without other obvious signs.6,7
A 26-year-old woman presented with acute ocular pain, redness, and blurred vision in her left eye. The patient had a short stature (4 feet, 8 inches) but did not manifest other signs of Weill-Marchesani syndrome. Family history identified 2 paternal aunts of a similar short stature; however, no history of glaucoma or ocular abnormalities was present in other family members.
The uncorrected distance visual acuity was 20/25 in the right eye and 20/100 in the left eye. It improved to 20/20 and 20/60, respectively, with pinhole. Corneal edema was present in the left eye, with central and peripheral shallowing of the anterior chamber. The left pupil was fixed and half dilated. The intraocular pressure (IOP) was 18 mm Hg in the right eye and 48 mm Hg in the left eye. Compression gonioscopy demonstrated 360-degree appositional closure in the right eye and complete permanent closure in the left eye with peripheral anterior synechiae. Immersion noncontact high-resolution B-scan echography or ultrasonic biomicroscopy (UBM) demonstrated 360-degree angle closure in the left eye and a narrow anterior chamber angle inlet in the right eye. The anteroposterior dimensions of the crystalline lenses were 4.7 mm in the right eye and 4.61 mm in the left eye and the lenticular diameter, 6.2 mm and 6.7 mm, respectively, determined by 20 MHZ and 35 MHz UBM. The fundus examination was normal with physiologic optic nerves in both eyes.
Bilateral peripheral iridotomies were performed to relieve any associated pupillary block. In the right eye, the angle remained open but narrow after iridotomy. In the left eye, the angle remained closed and the IOP was uncontrolled despite medical therapy and a laser peripheral iridoplasty. The manifest refraction performed after resolution of the corneal edema was −0.75 +1.00 × 80 in the right eye and −0.25 +0.50 × 145 in the left eye, with acuities of 20/20 and 20/25, respectively. After peripheral iridotomy, extended-depth SD-OCT demonstrated spherical lenses with lenticular iris contact and anteriorly displaced irides in association with shallow anterior chambers (Figure 1) in both eyes. The extended-depth SD-OCT measurements in our patient are compared with those of a control subject of the same age in Table 1. Lens vault, defined as the distance between the anterior capsule and a horizontal line connecting the 2 scleral spurs, was high, 1.09 mm in the right eye and 0.87 mm in the left eye (Table 1), and suggested that the spherical lens was the primary causal factor in the angle closure. Preoperative biometry and intraocular lens (IOL) calculation was performed using partial coherence interferometry (IOLMaster, Carl Zeiss Meditec AG); the average keratometry (K) reading was 47.69 diopters (D) in the right eye and 48.04 D in the left eye and the axial length (AL) was 20.11 mm and 20.17 mm, respectively.
After lens extraction and goniosynechialysis were performed, the angle in the left eye remained open in more than 1 quadrant with resolution of the angle closure. The IOP was normal without medical therapy.
Dominant forms of Weill-Marchesani syndrome are caused by a mutation in the fibrillin-1 gene and the recessive forms are caused by mutations in the ADAMTS (a disintegrin and metalloproteinase with thrombospondin motifs) gene family.6 In our patient, 2 paternal aunts were of short stature but no family history of glaucoma, ocular anomalies, or systemic syndromes was identified.
In our patient with suspected Weill-Marchesani syndrome, extended-depth SD-OCT imaging enabled visualization of the entire crystalline lens, which was helpful in demonstrating the mechanisms of the acute angle closure in the left eye and the chronic angle-closure glaucoma (ACG) in the right eye.7 In our age-matched normal patient, the lens was thinner, the lens vault, as determined by Tan et al.,8 was smaller, and the anterior curvature radius of the lens and the posterior curvature of the lens were greater than in our patient. As described by Razeghinejad et al.,9,10 our patient also had thicker corneas (right eye 610 μm, left eye 587 μm), thicker lenses, shallower anterior chamber depths (right eye 1.82 mm, left eye 1.73 mm), shorter ALs (right eye 20.11 mm, left eye 20.17 mm), and steeper K values (average K: right eye 47.69 D, left eye 48.04 D) than average.
Ultrasonic biomicroscopy was also used to measure the dimensions of the crystalline lens and helped to elucidate the mechanism of ACG in this patient. The advantage of this technique is visualization of the ciliary body. Ultrasonic energy penetrates melanin pigments and can image ocular structures posterior to the iris, unlike the infrared signal used with extended-depth SD-OCT. Although extended-depth SD-OCT can be used to image the entire crystalline lens through the pupil, it cannot provide images of the lateral edges of the lens, which are located behind the iris, or of the ciliary body.
Although the phenotype of our patient is compatible with Weill-Marchesani syndrome, she represents an incomplete example in which extended-depth SD-OCT imaging was used to characterize the subclinical ocular features. This high-resolution technology enabled accurate measurements of anterior curvature, posterior curvature, and thickness of the crystalline lens and helped to explain the lack of a highly myopic refractive error. This information was useful in planning definitive surgical intervention to treat the ACG. Extended depth SD-OCT may be useful in defining mechanisms of angle closure in other eyes with unusual presentations.
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