Isolated microspherophakia with optic disc colobomata Dorothy S.P. Fan, FRCS, Alvin L. Young, MMedSc, FRCSI, Christopher B.O. Yu, FRCOphth, Thomas Y.H. Chiu, AFRCS, MRCS, Nongnart R. Chan, MD, Dennis S.C. Lam, FRCS, FRCOphth We describe a case of isolated bilateral microspherophakia with optic disc colobomata. A satisfactory outcome was achieved following uneventful lensectomy and scleral fixation of an intraocular lens. J Cataract Refract Surg 2003; 29:1448 –1452 © 2003 ASCRS and ESCRS
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icrospherophakia is characterized by a small, spherical crystalline lens. The pathogenesis of this condition is thought to be related to defective development of the lens zonules.1 Microspherophakia may present in isolation or with systemic diseases, such as hyperlysinemia and Weill-Marchesani syndrome.2 Common ocular complications include dislocation of the lens and glaucoma.3,4 We present a case of isolated bilateral microspherophakia and optic disc colobomata. The clinical problems, management strategies, and surgical outcomes are discussed. To our knowledge, this is the first reported case of bilateral microspherophakia and optic disc colobomata.
Case Report A 16-year-old Chinese teenager presented with a 3-year history of gradual painless visual deterioration in both eyes, Accepted for publication November 11, 2002. From the Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, Kowloon (Fan, Yu, Chiu, Chan, Lam), and the Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Prince of Wales Hospital, Shatin (Young), Hong Kong, China. Supported in part by Action for Vision Eye Foundation, Hong Kong, China. None of the authors has a financial interest in any product mentioned. Reprint requests of Prof. Dennis S.C. Lam, Chairman, Department of Ophthalmology & Visual Sciences, The Chinese University of Hong Kong, Hong Kong Eye Hospital, 147K Argyle Street, Kowloon, Hong Kong, China. E-mail:
[email protected]. © 2003 ASCRS and ESCRS Published by Elsevier Inc.
more severe in the left eye. He did not have a cardiovascular, musculoskeletal, or metabolic disease and had been healthy since birth. There was no family history of Marfan’s syndrome, Weill-Marchesani syndrome, metabolic disease, or dislocation of the crystalline lens. The patient was of normal stature for his age, 166 cm, which is between the 50th and 75th percentile of the corresponding Hong Kong population.5 The patient had high myopia (–12.75 – 4.00 ⫻ 180 in the right eye and –13.25 in the left eye). The best corrected visual acuities were 20/50 and 20/200, respectively. The intraocular pressure (IOP) was normal in both eyes at the time of presentation. The right cornea was clear, but there was microspherophakia with mild superior and anterior displacement. The anterior chamber was shallow. The remaining anterior segment structures were normal (Figure 1, A). Similar but more severe findings were observed in the left eye. The anterior chamber was shallow with central iridocorneal touch. Posterior synechias were present for 270 degrees from 4 to 8 o’ clock. A fibrovascular membrane extended radially from the midperiphery of the cornea to the paraxial area on the endothelial surface at 10 o’clock (Figure 1, B). The slitlamp examination also revealed microspherophakia and an anterior capsule cataract in the left eye. No significant iridodonesia or zonular rupture was noted. Ultrasound biomicroscopy (UBM) showed a shallow anterior chamber, anterior subcapsular cataract, and posterior synechias (Figure 1, C). In Figure 1, D, a flat anterior chamber and iridocorneal touch are shown in another cut of the left eye by UBM. No abnormality was detected in the vitreous or retina of either eye. However, both optic discs were enlarged (about 1.5 ⫻ larger than normal) with a sharply demarcated, glistening white, deep bowl-shaped excavation (Figure 1, E and F). The inferior rim of the disc was thinner than the superior rim in both eyes. Automated perimetry (Humphrey Field Analyzer Nodel 750) revealed slight enlargement of the blind spot. The 0886-3350/03/$–see front matter doi:10.1016/S0886-3350(02)01992-2
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Figure 1. (Fan) A: Right microspherophakia. B: Slitlamp photograph of the left eye showing a dilated pupil with posterior synechias and anterior lens opacity. Note the blood vessels extending from the iris onto the lens. C: Ultrasound biomicroscopy of the left eye showing a shallow anterior chamber and central anterior lens opacity. D: Ultrasound biomicroscopy of a different cut of the left eye showing a flat anterior chamber and iridocorneal touch. E: Right optic disc showing the deep excavation. F: Left optic disc showing the deep excavation.
findings were suggestive of bilateral optic disc colobomata. No colobomatous structures were identified in the adjacent choroid, and the retina and retinal vessels were normal. Pars plana lensectomy with scleral fixation of the intraocular lens (IOL) under general anesthesia was planned for the left eye. The keratometric and axial length measurements were within the normal range: 40.00/43.62 diopters (D) in the right eye and 42.00/45.75 D in the left eye and 22.78 mm and
22.25 mm, respectively. The SRK II formula was used for IOL power calculation. An IOL power of ⫹25.0 D (CZ70BD, Alcon) was chosen for a target refraction of ⫺0.17 D. Two pars plana sclerotomies were performed at the superotemporal and superonasal regions. The lens was removed through a posterior approach, after which the membrane remained attached to the corneal endothelial surface and part of the iris tissue. The membrane was peeled off the
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cornea using an Eckardt end-gripping forceps (DORC) through the pars plana site. A scleral tunnel was used to introduce the IOL, and 10-0 polypropylene (Prolene威) sutures were rotated and buried without using scleral flaps. No complications were encountered, and the postoperative course was uneventful. One month postoperatively, the patient’s visual acuity improved to 20/35 (⫹1.50 –2.00 ⫻ 175). A faint pigmented corneal scar was noticed in the paraxial area in the left eye. The membrane was submitted for histological examination. Gross examination of the specimen showed a folded, white, and densely pigmented membrane measuring 1.5 mm ⫻ 1.0 mm. Microscopic examination of the serial sections revealed multiple folded periodic acid-Schiff (PAS) stained membranes compatible with the lens capsule on which intact subcapsular lens epithelium was identified in some areas (Figure 2, left). An extensive subcapsular collagenized fibrous plaque of metaplastic epithelial cells was present and adherent to the membrane. Some fibrous metaplasia contained blood vessels and pigments. At 1 end, the lens capsule was connected to the fragment of atrophic and necrotic iris, showing pale staining and rounding of the pigment. In other areas, the membrane was connected to the strand of iris pigment (Figure 2, right). The pathologic diagnosis was anterior lens capsule with adherent iris and anterior subcapsular vascular fibrous metaplasia, correlated with the clinically observed central lens opacity. One year postoperatively, the visual acuity in the right eye deteriorated to 20/200 with correction and the myopia progressed to ⫺15.00 D. Also, the anterior chamber became much shallower. There was an iridocorneal touch resulting from forward displacement of the crystalline lens. The IOP was 22 mm Hg. Pars plana lensectomy with scleral fixation of the IOL was also performed in the right eye. A ⫹25.0 D IOL
(CZ70BD) was selected for a target refraction of ⫺0.63 D. No complication occurred intraoperatively. The IOP remained high on the first (32 mm Hg) and second (27 mm Hg) postoperative days and required treatment with timolol 0.5% (Timoptol) twice daily, lantonoprost 0.005% (Xalatan威) once daily, and acetazolamide 250 mg (Diamox威) 4 times daily for control. The IOP returned to normal (9 mm Hg) 4 days postoperatively. At 12 months, the visual acuity in the right eye was 20/30 (⫹0.50 –3.25 ⫻ 175). The IOP was 12 mm Hg without antiglaucoma treatment. No change in the optic disc or visual field was detected. The left eye remained stable over the same period. The right cornea was clear, and the paraxial faint pigmented corneal scar on the left cornea remained the same (Figure 3).
Discussion Microspherophakia is a rare condition. It is usually associated with other systemic syndromes such as Marfan’s, glaucoma–lens ectopia–microspherophakia– stiffness–shortness cri-du-chat, and Weill-Marchesani.1,2,4,6,7 Patients with the latter syndrome tend to have a short stature, brachydactyly, limitation of joint movements, and heart malformations.2 Our patient did not have any feature of these syndromes. Microspherophakia is often associated with other ocular complications such as glaucoma.3,4 Glaucoma may be secondary to lens dislocation but can also be present in the absence of forward lens displacement. Wright and Chrousos3 report a case of bilateral acute angle-closure glaucoma in Weill-Marchesani
Figure 2. (Fan) Left: Photomicrograph demonstrates the PAS-positive folded membrane consistent with the lens capsule. Fragments of the atrophic iris are present, some of which are adherent to the membrane (posterior synechias) (PAS stain; original magnification ⫻20). Right: Photomicrograph shows area of subcapsular collagenized fibrous metaplasia of the lens epithelium (arrowhead). This correlates with the clinical and UBM findings in Figure 1, C. Few subcapsular lens epithelial cells are identified (arrow). Occasional blood vessels and pigmented vascularized fibrous membrane are present (hematoxylin and eosin stain; original magnification ⫻20). 1450
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Figure 3. (Fan) Left: Postoperative slitlamp photograph of the right eye. Right: Postoperative slitlamp photograph of the left eye showing the faint corneal scar and the IOL.
syndrome without lens subluxation.1 In our patient, despite the shallow anterior chamber and the forward displacement of the crystalline lens, the IOPs remained normal. Optic disc coloboma is reported to be associated with other ocular features such as posterior lenticonus, nystagmus, strabismus, and nonrhegmatogenous retinal detachment.8,9 To our knowledge, the association with microspherophakia has not been reported. Embryologically, the zonules and the physiological cup of the optic disc develop during the fourth month of gestation.10 However, the exact mechanism for its coexistence is not known. Colobomata is usually present in the inferior half of the disc with a variable degree of retinal and uveal involvement. No other coloboma was detected in our case. Perimetry showed an enlarged blind spot but was otherwise unremarkable. Myopia is common in patients with microspherophakia. Lenticular myopia is induced by a small and spherical crystalline lens. In our case, despite the relatively normal keratometric and axial length figures, the patient was highly myopic. In addition to the abnormal morphology of the lens, the effective lens power would be increased by anterior subluxation, resulting in a high refractive error. Surgical intervention is warranted to prevent further complications and to improve vision. The optimal time and best surgical option to manage ectopia lentis is unresolved.11–13 However, in cases with gross
capsule and lens abnormalities, a scleral-fixated IOL appears to be a valuable option with good visual outcome.13,14
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9. Yagev R, Monos T, Shoham A, Lifshitz T. Microphthalmos and optic disc coloboma associated with a retrobulbar cyst. J AAPOS 2000; 4:381–382 10. Wiggs JL. Fundamentals of human genetics. In: Yanoff M, Duker JS, eds, Ophthalmology. London, Mosby, 1999; 1:1–8 11. Lam DSC, Rao SK, Fan DSP, et al. Use of scleral IOL fixation or CTR in children with ectopia lentis [letter]. J Cataract Refract Surg 1999; 25:1422
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12. Young AL, Agrawal R, Yuen HKL, et al. Options for Marfan’s syndrome. J Pediatr Ophthalmol Strabismus 2001; 38:261 13. Lam DSC, Young AL, Leung ATS, et al. Scleral fixation of a capsular tension ring for severe ectopia lentis. J Cataract Refract Surg 2000; 26:609 –612 14. Lam DSC, Ng JSK, Fan DSP, et al. Short-term results of scleral intraocular lens fixation in children. J Cataract Refract Surg 1998; 24:1474 –1479
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