A 9-year-old Amish boy was referred to the pediatric and glaucoma services by a local ophthalmologist for elevated IOP and increased cup-to-disc ratio. He had previously been seen by an optometrist for progressive myopia, and recently had described eye aches, especially when waking in the morning. His mother said that her son was healthy except for being short for his age. Examination of his hands revealed short stubby fingers and his inability to completely flex his fingers. Best-corrected visual acuity with −12.00 D +2.00 D spectacles in his right eye and −14.00 D +2.00 D in his left eye was 6/30 in both eyes and did not improve with pinholes. The patient had been treated with latanoprost 0.005% for 2 weeks, and IOPs were 36 mm Hg in the right eye and 35 mm Hg in the left eye by Goldmann tonometry. The iris collarettes appeared to be thickened and abnormal, with bridging strands of iris stroma to an area of high peripheral anterior synechiae in the right eye in 2 clock hours. The angles were completely closed bilaterally. The lens appeared to be spherophakic and bulged slightly into the anterior chamber; phacodonesis was evident with eye movements. The optic nerves had a cup-to-disc ratio of 0.95 in the right eye and 0.85 in the left eye, with a corresponding relative afferent pupillary defect in the right eye.
The patient was administered timolol 0.25% gel-forming solution daily and brinzolamide twice daily in both eyes until surgery. He underwent an uneventful trabeculectomy with a firmly sutured flap and mitomycin C for 3 minutes in his right eye. Postoperatively, he received prednisolone 1% eight times daily, ofloxacin four times daily, and atropine 1% twice daily. The next day, his IOP decreased to 6 mm Hg without the formation of choroidal effusions. There was a completely flat anterior chamber, however, with lens–cornea touch and zonules visible for 360°. Less than 24 hours later, the patient underwent a bleb revision with tight suturing of the scleral flap and anterior chamber reformation. On the following day, the IOP was 18 mm Hg, but lens–cornea touch had recurred. A lensectomy was performed, which was combined with an anterior vitrectomy, the implantation of a double-plate Molteno aqueous shunt, and processed pericardial patch graft, as well as a scleral-sutured IOL. At the time of surgery there was no evidence of aqueous misdirection. Anterior capsulotomy was attempted after deepening of the anterior chamber, but could not be performed because of marked lens motility. The lens was incised with a supersharp blade superiorly, and endolenticular aspiration was performed with a vitrector and second port infusion at the 2 o’clock position. Complete lack of zonular support prevented an attempt to leave the peripheral capsule in place, and a large core vitrectomy was performed. On the next day, the IOP was 14 mm Hg, the anterior chamber was deep, and the IOL was well centered.
During anesthesia for the right eye, neodymium–YAG laser iridotomy was performed in the left eye, but the angle remained closed and the IOP was 33 mm Hg with drops. Subsequently, a lensectomy, anterior vitrectomy, and scleral-sutured IOL and double-plate Molteno implantation were undertaken. On the first postoperative day, an IOP of 3 mm Hg, peripheral choroidal effusions, and a low-lying, nonrhegmatogenous retinal detachment were found. With continued observation, the IOP slowly increased to 15 mm Hg, with complete resolution of the choroidal and retinal detachments.
The intraocular portion of the tube in the right eye was gradually displaced anteriorly by localized peripheral anterior synechiae and required surgical repositioning. The cup-to-disc ratio had decreased markedly to 0.5 in the right eye with 2 plus pallor and 0.45 in the left eye. The anterior chambers were deep and the intraocular portions of the shunt tubes were in good position, but specular microscopy revealed a decreased endothelial cell count in the right eye (1,246 cells/mm2 vs 2,597 cells/mm2 in the left eye). At the last visit, 12 months postoperatively, the best-corrected visual acuity was 6/60 in the right eye and 6/120 in the left eye; IOPs were 19 and 18 mm Hg, respectively, with timolol 0.5% gel-forming solution in both eyes; and visual fields demonstrated superior central islands in both eyes.
After case 1 was diagnosed as having Weill–Marchesani syndrome, a thorough family history was taken. Both parents were examined but had no signs of Weill–Marchesani syndrome or glaucoma. Their immediate family included four sons. Only one other son had “thick glasses” according to the mother, but all sons were examined. The eldest son had thick myopic glasses, and was completely asymptomatic. His visual acuity was 6/60 with a pinhole visual acuity of 6/18 in the right eye and 6/24 with a pinhole visual acuity of 6/7.5 in the left eye, with −11.00 D in the right eye and −11.25 +1.00 D spectacles in the left eye. He required a +2.00 bifocal add in each lens to read. Ocular examination demonstrated distichiasis and long lashes. His IOP was 54 mm Hg in both eyes by Goldmann tonometry. Pupillary remnants were seen bilaterally, as were phacodonesis and a protruding spherophakic lens. The anterior chamber was shallow in both eyes, with gonioscopy showing a closed angle bilaterally. The optic nerves had a cup-to-disc ratio of 0.8 in the right eye and 0.6 in the left eye.
A combination of lensectomy, anterior vitrectomy, and aqueous shunt and scleral-sutured IOL surgery was performed in each eye with no complications. A CZ70 base-down, 23.5-D IOL was chosen for the right eye and 26.5 D for the left eye. At the last visit 12 months later, the visual acuity without lenses was 6/18 in the right eye and 6/12 in the left eye, and the patient could read J1 at near without glasses. On examination, his tubes were in good position, and IOPs were 24 mm Hg in the right eye and 20 mm Hg in the left eye without the use of IOP-lowering drops. The cup-to-disc ratio had also decreased to 0.3 in the right eye and 0.2 in the left eye.
The management of the ocular complications of Weill–Marchesani syndrome is multifaceted and often difficult. Increasing myopia may be a presenting sign of Weill–Marchesani syndrome. Whereas the correction of myopia and astigmatism is essential, recognition of the underlying condition is critical to preserving vision. New visual acuity should also be assessed because a decreased amplitude of accommodation may be found, requiring an addition in the glasses for reading,9 as seen in case 2.
Angle closure glaucoma is a frequent complication in Weill–Marchesani syndrome and is thought to be caused by a combination of progressive spherophakia or anterior lens subluxation with resultant narrowing of the peripheral anterior chamber and pupillary block.5,10 In one large series, 13 of 17 eyes tested had glaucoma, and 2 more had narrow angles.5 Other causes of angle closure glaucoma in childhood (eg, retinopathy of prematurity, persistent hyperplastic primary vitreous, and Marfan syndrome) should be included in the differential diagnosis.11
The medical treatment of glaucoma in Weill–Marchesani syndrome is difficult. Although miotics have been used successfully in some cases,12,13 they may cause a forward movement of the iris–lens diaphragm, increase pupillary block, and precipitate acute angle closure glaucoma.14,15 This phenomenon has often been referred to as “inverse glaucoma.” Miotics should especially be avoided in cases with an intact zonular apparatus.16 Mydriatics can be used to reverse pupillary block, and some have argued that they be given to patients with Weill–Marchesani syndrome and pupillary block who refuse an iridectomy.17 Others have noted that long-term mydriatic use should be avoided because of a high incidence of lens dislocation into the anterior chamber.10,18 In one case, cyclopentolate induced bilateral angle closure glaucoma in a patient with Weill–Marchesani syndrome.14
Lensectomy for lens subluxation usually has a good outcome. It is indicated if the lens is opacified, luxated into the anterior chamber, or bisecting the pupil with poor spectacle-corrected visual acuity, or if visual acuity is poorer than the true potential.19
Peripheral iridectomy is the treatment of choice in early cases of Weill–Marchesani syndrome with narrow angles in which the lens is neither cataractous nor subluxated, especially in patients with pupillary block.12 Early iridectomy has few complications and may often improve the visual prognosis.5,9 In 1981, Ritch and Wand showed that laser iridotomies were the treatment of choice for pupillary block in spherophakia, and performed prophylactic iridotomies in contralateral eyes.18 They also suggested that thymoxamine prophylaxis could induce miosis without moving the lens forward, thus preventing future anterior luxation of the lens.18 It has been suggested that a location peripheral to the lens equator be chosen for laser treatment, as later subluxation may block the iridotomy20 and lens subluxation at the time of iridotomy may place the lens capsule perilously close to the posterior pigment epithelium of the iris. Laser iridoplasty may also be considered after successful iridotomy to further open the angle.16
Often, however, the angle has become permanently closed over time.5,18 This was evident in both of our cases, and in case 1, the angle of the better eye did not open with a trial iridotomy. Even when the angle appears to be open anatomically after laser iridotomy in Weill–Marchesani syndrome, filtration may be decreased because of compromised outflow pathways. Patients may require glaucoma medication9 or lensectomy21 to further decrease the IOP.
The results of lensectomy in Weill–Marchesani syndrome have improved with modern surgical techniques.5,19 Complications still occur, and may be due to a difficult capsulorhexis or a mobile lens with increased zonular laxity.21,22 The absence of good capsular support may require placing a sulcus22 or anterior chamber lens21 or simply leaving the patient aphakic.19 One case report describes the successful use of a capsular tension ring in Weill–Marchesani syndrome to stabilize cataract extraction and facilitate IOL implantation.22
Once outflow channels have been damaged in Weill–Marchesani syndrome, the IOP may remain elevated despite peripheral iridectomy and lens extraction.3 Further surgery may be required, but little has been published in the literature on trabeculectomy in Weill–Marchesani syndrome.
In our first case, the advanced glaucomatous damage of the optic nerve head prompted us to perform a trabeculectomy with mitomycin C. Although flow through the fistula was judged to be minimal to mild, the patient presented the next day with an IOP of 6 mm Hg, and developed a completely flat chamber with lens–cornea touch. Despite anterior chamber reformation and additional flap suturing less than 24 hours later, the anterior chamber shallowed once again with lenticulo–corneal apposition, and further surgical intervention was thus required.
As lensectomy was planned, whether and where to place an IOL were considered. Leaving the patient aphakic would not correct the lenticular myopia, as the axial lengths in patients with Weill–Marchesani syndrome are normal. Because this young Amish patient often worked the fields of his father’s farm and had always had dirt-encrusted hands on earlier visits, there was a potential for future aphakic contact lens contamination with soil. Also, his inflexible fingers appeared to make contact lens manipulation difficult. As no angle recess existed in which to place an anterior chamber IOL, and no anterior capsular support remained for a sulcus IOL, implanting a scleral-sutured IOL was the only option. Although the long-term outcome of scleral-fixated IOLs in children is unknown, several studies have demonstrated encouraging short-term results.23–25 In this case, a scleral-sutured IOL also acted as a barrier to prevent future entrapment of vitreous in the aqueous shunt. After extensive consultation with experienced pediatric cataract surgeons and discussion of the options with the parents, a scleral-fixated IOL was chosen.
In randomized studies, the double-plate Molteno shunt has been shown to lower IOP better than the single-plate Molteno shunt26 and the larger Schocket shunt.27 The double-plate Molteno shunt has had results as good as those of the similarly sized Baerveldt implant but slightly fewer complications.28 Studies have shown, however, that there is a gradual loss of function of the aqueous tube shunt over time, especially in children.29 An additional advantage of a double-plate Molteno implant is that when future revision becomes necessary, only one plate may be revised (50% of the total filtering area), decreasing the risk of post-revision hypotony.
Both of our patients did well after combined lensectomy, anterior vitrectomy, and double-plate Molteno aqueous shunt and scleral-sutured IOL placement. This technique was successful in decreasing IOP, deepening the anterior chamber, and avoiding future luxation of the crystalline lens. Complications included a choroidal effusion and serous retinal detachment that resolved spontaneously. Anterior displacement of the intraocular tube due to development of localized postoperative peripheral anterior synechiae occurred in one eye, requiring surgical repositioning of the tube. Significant reversal of cupping occurred in both patients.
We have described four eyes with severe chronic angle closure glaucoma associated with Weill–Marchesani syndrome in two Amish brothers who presented with increasing myopia and advanced glaucomatous damage. Laser iridotomy was ineffective in treating the angle closure, reinforcing the premise that early prophylactic iridotomies should be performed in cases of Weill–Marchesani syndrome to prevent the development of pupillary block and chronic angle closure. As was have seen, cases of Weill–Marchesani syndrome requiring trabeculectomy may be predisposed to flat anterior chambers postoperatively due to their underlying anatomical abnormalities. These include narrow angles, microspherophakia, and zonular laxity, as well as ciliary body abnormalities. This series also demonstrates that although children have a greater reserve of corneal endothelial cells, flat anterior chambers with lens–cornea touch should be addressed promptly before extensive loss of endothelial cells occurs. In patients with glaucoma and Weill–Marchesani syndrome, combined lensectomy, anterior vitrectomy, and aqueous shunt with patch graft and scleral-fixated IOL placement may be effective in lowering IOP, partially reversing optic nerve cupping, preventing complications of sulcus and anterior chamber IOLs, and decreasing the future risk of lens subluxation.