Visual Outcomes in Ectopia Lentis in Marfan Syndrome: A Study of Four Surgical Techniques in Children and Adults.

Background/Objectives: To evaluate how the surgical technique and type of implanted intraocular lens influence the postoperative visual acuity and complications in ectopia lentis associated to Marfan syndrome patients. Materials and Methods: The medical records and videos of ectopia lentis surgeries in patients (children and adults) with Marfan syndrome, were retrospectively reviewed and compared. The study included 33 eyes that underwent four different intraocular lens implantation (IOL) techniques: IOL in conjunction with a simple capsular tension ring, IOL in conjunction with a Cionni modified capsular tension ring (m-CTR), two-point scleral IOL fixation and IOL with one haptic in the bag and one haptic sutured to the sclera. Results: Vision significantly improved from a mean preoperative visual acuity of 0.1122 to a mean postoperative visual acuity of 0.4539 in both age groups (p < 0.0001), with no difference in the primary outcome between children and adults. The most common surgical technique used in both age groups was IOL in conjunction with an m-CTR. There was only one major postoperative complication requiring additional surgery. Conclusions: Zonular weakness mainly influenced by age was the most important selection criterion for the surgical approach. Regardless of the technique employed, the postoperative visual acuity was improved in both adults and children.

Outcomes of three surgical approaches for managing ectopia lentis in Marfan syndrome.

OBJECTIVE: To investigate the clinical outcomes of three surgical approaches for ectopia lentis in Marfan syndrome (MS) patients who had undergone crystalline lens removal with posterior chamber intraocular lens (IOL) implantation techniques comprising the intrascleral fixation of IOL, sutured scleral fixation of IOL, and IOL implantation with the use of a Cionni capsular tension ring (CTR). METHODS: This is a retrospective comparative study, including 35 eyes of 21 patients who underwent the intrascleral fixation of IOL (group 1), scleral IOL fixation with the Z-suture (group 2), and IOL implantation with the use of a Cionni CTR (group 3) following crystalline lens removal. The surgical indications were as follows: no improvement in visual function after eyeglasses or contact lens application due to excessive irregular astigmatism and advanced crystalline lens decentration in which the edge of the crystalline lens came up to the optical axis, or dislocation of the crystalline lens resulting in aphakia and secondary glaucoma due to lens dislocation. The surgical outcomes and complications due to surgery were compared between the groups. RESULTS: The mean age of the patients in the study was 12.3 ± 8.7 years (5-32 years). There were 10 eyes in group 1, 13 eyes in group 2, and 12 eyes in group 3. Visual acuity improved significantly in each group after surgery. Ocular residual astigmatism did not differ significantly between the groups (p = 0.51). CONCLUSION: There were no significant differences between the three surgical approaches in the current study in terms of the postoperative results and complications.

Visual outcomes of lens subluxation surgery with Cionni modified capsular tension rings in Marfan syndrome.

Marfan syndrome (MFS) is a hereditary disease with an incidence of 0.3% in the general population. Approximately 60% of MFS patients with FBN1 gene mutation will suffer ectopia lentis (EL) from the age of 3. With the development of EL, severe loss of vision will accrue because of lens tilt and glaucoma. Cionni modified capsular tension rings (MCTR) has been applied in the surgery for EL in MFS patients. To evaluate visual acuity and safety of using MCTR during lens subluxation surgery in MFS patients, 66 MFS patients (110 eyes) were included in our study, with the mean duration of follow-up of 4.7 months (SD 1.76 months). The capsular bags were preserved in 101 eyes (91.81%) with MCTR implantation. There was an overall significant improvement in BCVA at 1-month follow-up which was maintained at 3 months. Multivariable linear regression revealed that older age at first visit was associated with greater postoperative BCVA at the 1-month follow-up (P = 0.007). A significant difference was found between different degrees of lens subluxation and the length of surgical time and complications. At follow-up, only two eyes (1.98%) were identified to have developed retinal detachments. In conclusion, better visual outcomes can be achieved when patients received an early operation with MCTR implantation.

Ocular manifestations in classic homocystinuria.

BACKGROUND: Classic homocystinuria (HCU), or cystathionine beta-synthase (CBS) deficiency, is a rare inborn error of methionine metabolism. Main clinical features may include skeletal and vascular manifestations, developmental delay, intellectual disability and eye disorders. MATERIAL AND METHODS: This is an observational and retrospective study aiming at describing eye abnormalities presented by a cohort of late-diagnosed HCU patients. Data regarding ophthalmological evaluation included visual acuity, refraction, biomicroscopy, Perkins tonometry, fundus examination, retinography, biometry, ocular ultrasound, optical coherence tomography, anterior segment photography and topography. RESULTS: Ten patients with HCU (20 eyes) were included. The most frequent findings were ectopia lentis(n = 20) and myopia (n = 9). Biometry, ultrasound, OCT and topography findings were available for four patients. One patient had keratoconus; one had abnormal retinal pigmentation; and two had lens surgery scars with irregular astigmatism. CONCLUSIONS: Eye abnormalities are very frequent in late-diagnosed HCU patients. The presence of ectopia lentis should always raise the diagnostic hypothesis of HCU.

Novel double-flanged technique for managing Marfan syndrome and microspherophakia.

A new technique for fixating the capsular bag in patients with ectopia lentis is presented. In this technique, the capsulorhexis is performed using a femtosecond laser, followed by the insertion of a standard capsular tension ring to redistribute capsular forces. The nucleus is hydroprolapsed into the anterior chamber and nuclear disassembly is performed above the iris plane to reduce zonular stress. Finally, a 5-0 polypropylene monofilament is used to fixate a capsular tension segment and subluxated capsular bag. This novel double-flanged method, achieved with cautery, does not require direct suturing of the monofilament on the sclera. This article describes the use of this new technique in 3 eyes, 2 in patients with Marfan syndrome and 1 in a patient with microspherophakia.

Capsular bag stabilization during lens extraction and intraocular lens implantation in cases of Marfan syndrome with ectopia lentis using ultra-high-viscosity ophthalmic viscosurgical devices.

Capsule-sparing lens surgery in the setting of compromised zonular support presents several surgical challenges. One challenge has been achieving early stabilization of the capsular bag prior to cataract removal. We developed a technique that uses a high-molecular-weight viscoadaptive substance to distend and stabilize the capsular bag from within, with or without early insertion of a capsular tension ring, during lens extraction and intraocular lens (IOL) implantation in cases of zonular insufficiency. The technique obviates the use of capsule hooks or similar devices that have been used traditionally for early stabilization of the capsular bag. It has also resulted in immediate and long-term stability of the IOL-zonule-capsular bag complex, with excellent visual outcomes in both pediatric and adult patients. FINANCIAL DISCLOSURE: Dr. Rosenthal is a consultant to Abbott Medical Optics, Inc., Ophtec USA, and Bausch & Lomb/Valeant. Dr. Venkateswaran has no financial or proprietary interest in any material or method mentioned.

The eye as a window to a rare disease: ectopia lentis and homocystinuria, a Pakistani perspective.

Non-traumatic ectopia lentis has been associated with genetic diseases in a European population; however, no data are present in regards to this in a Pakistani demographic. In third world countries such as Pakistan, due to the lack of screening tests, this disease has the potential to remain undiagnosed till a later age, at which point the eye through the finding of ectopia lentis has potential to lead to the right diagnosis. Our purpose was to investigate Pakistani patients presenting with ectopia lentis who have underlying homocystinuria and establish a relationship between the two. Additionally, we elicited various systemic and ophthalmic features in these settings. Ten Pakistani patients presenting with decreased vision and ectopia lentis with concomitant homocystinuria were included in the study. Assessment of systemic and ophthalmic features was performed. All patients presented with visual deterioration. All 20 (100 %) eyes had ectopia lentis, of which, 15 (75 %) eyes had inferior subluxation, whereas five (25 %) eyes had anterior subluxation of the crystalline lens. Ectopia lentis and homocystinuria appear to have a strong correlation in Pakistani population. Ectopia lentis has the potential to serve as an important clue to its diagnosis, which may in turn lead to decreased morbidity if diagnosed in a timely fashion.

Homocystinuria (HC) and Neurofibromatosis Type-1 (NF-1): An Unusual Presentation in a Child.

Homocystinuria (HC) and neurofibromatosis type-1 (NF-1) are two genetically determined conditions with variable clinical manifestations. HC is a neurocutaneous autosomal recessive condition while NF-1 is an autosomal dominant phacomatosis. Both HC and NF-1 present with distinct systemic as well as ocular manifestations; however, vascular complications can occur in both the conditions. A9-year boy diagnosed case of HC along with other two siblings is reported here. He was referred by his paediatrician with decreased vision secondary to ectopia lentis. When examined in detail, he turned out to be suffering from both HC and NF-1, based on raised serum homocysteine levels, biopsy report of NF-1 and presence of café au laitspots and ectopia lentisclinically. Lens anomaly was corrected surgically while he was given oral vitamin B6 for HC to which he responded well.

A new combined surgical approach in a patient with microspherophakia and developmental iridocorneal angle anomaly.

BACKROUND: We describe a patient with microspherophakia due to Weill-Marchesani syndrome accompanied by developmental angle anomaly who was successfully treated with a surgery of combined PPL and goniotomy. CASE: We report ocular findings of a 1-year-old girl who was diagnosed with Weill-Marchesani syndrome with a positive family history of glaucoma in her cousins and glaucoma with anterior segment dysgenesis in her older brother. Anterior segment examination revealed clear corneas with 13 mm horizontal diameter in the right and 12.5 mm in the left and very shallow anterior chambers centrally and peripherally in both eyes. Although axial lengths were 18.9 mm in the right and 19.1 mm in the left eye, cycloplegic refractive errors were -7.75 DS (-2.75 at 1800) in the right eye and -8.50 DS (-2,75 at 1800) in the left eye. Intraocular pressures were 34 mmHg in the right and 38 mmHg in the left eye. OBSERVATION: Following pars plana lensectomy, gonioscopy revealed developmental iridocorneal angle anomaly and goniotomy was performed at the same session. During 3 years of follow-up, the patient experienced no complications. IOP was 12 mmHg without medication in the last visit; cup-to-disc ratio and corneal diameters were stable. CONCLUSION: The coexistent microspherophakia and developmental iridocorneal angle anomaly can be successfully treated with combined pars plana lensectomy and goniotomy.

Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review.

BACKGROUND: To report the diagnostic features and management strategy of a rare case of Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction. CASE PRESENTATION: A patient presented with advanced glaucoma with an intraocular pressure of 49 mmHg in the left eye, and subsequently received trabeculectomy to control the intraocular pressure. Surprisingly, slit lamp examination through the dilated pupil revealed a dislocated microspherophakic lens almost touching the corneal endothelium. A microspherophakic lens was confirmed by anterior segment optical coherence tomography. Weill-Marchesani syndrome was then diagnosed by ocular examinations, and was accompanied by systemic abnormalities, including brachymorphia and brachydactyly. Corneal endothelial microscopy showed severe corneal endothelial dysfunction, and lens extraction and intraocular lens implantation were subsequently performed to prevent further endothelial damage. At the 1-year follow-up visit, the patient had well-controlled intraocular pressure, transparent cornea, and normal anterior chamber depth, while the intraocular lens remained correctly in place. CONCLUSIONS: Weill-Marchesani syndrome could be diagnosed by microspherophakia, high myopia, secondary glaucoma, and systemic abnormalities such as brachymorphia and brachydactyly. Removal of the microspherophakia is recommended to control intraocular pressure and improve vision. Advanced glaucoma in Weill-Marchesani syndrome should be treated with combined glaucoma surgery and lens extraction.

Combined cataract surgery on a Marfan-syndrome patient (case report).

Combined cataract surgery of an ectopic lens was performed on a 10 years old girl with Marfan-syndrome. A Cionni capsular tension ring was implanted into the capsular bag, and the bag was pulled to its place and fixed with a scleral suture. Because of the young age of the patient a primary posterior capsulorhexis was performed, through which anterior vitrectomy was carried out and the artificial lens was implanted into the capsular bag. In the literature several surgical solutions are advised for the treatment of the ectopic lens in patients with Marfan-syndrome. We have performed a successful surgery combined with posterior capsulorhexis in our case. Because of its rarity and special surgical solution, we think this case report is interesting and can be helpful in such cases to be published.

Capsule fixation device for cataract surgery.

PURPOSE: The authors present a patient with Marfan syndrome who underwent cataract surgery using a novel device for fixation of capsular bag. METHODS: The capsule fixation device (CFD) is poly(methyl methacrylate) arch with double-armed bent hook that can be introduced into the anterior chamber through the clear corneal incision, placed with a rest on the capsule equator, and sutured to the sclera without injury of the capsular bag. A 16-year-old patient with Marfan syndrome underwent consecutive phacoemulsification with in-the-bag intraocular lens and CFD implantation on both eyes. RESULTS: During the surgery handling the CFD was technically simple with good visualization. The preoperative best-corrected visual acuity was 0.3 and 0.1 and postoperatively 0.6 and 0.8 in the right and left eyes, respectively. The postoperative follow-up was over 9 months. CONCLUSIONS: Use of the CFD was successful in a case of lens subluxation with no complications observed during the period of follow-up.

Pathophysiology of zonular diseases.

PURPOSE OF REVIEW: The mechanisms implicated in the clinical manifestations of zonular diseases, especially ectopia lentis, are reviewed. RECENT FINDINGS: The molecular mechanisms involve fibrillin in a large spectrum of heritable diseases characterized by zonular stretching. The usual complications are refractive errors, especially myopia, glaucoma (either primary open angle, secondary angle closure and pupil block by anterior displacement of the lens) and retinal detachment. SUMMARY: The genetics and molecular understanding provide information for genetic counseling. Treatment of myopia and glaucoma depend on the underlying mechanism, and lens surgery techniques are continuously improved.

[Variation of visual acuity in young patients with ectopia lentis submitted to surgery]. / Variação da acuidade visual em pacientes jovens com ectopia lentis submetidos à cirurgia.

PURPOSE: To assess the results as to visual acuity of two different surgical procedures for ectopia lentis. METHODS: Fifty-one eyes of 28 patients (16 males and 12 females, mean age 16.00 +/- 8.5) with simple (19 cases) or Marfan syndrome-associated (9 cases) ectopia lentis with different levels of subluxation underwent lens extraction with implantation of intraocular lenses (IOL) with scleral fixation (21 cases) or by lens extraction with implantation of the intraocular lenses in the capsular bag expanded by endocapsular ring (RING) (30 cases). Result analysis emphasized pre- and postoperative visual acuity during a six-month follow-up. RESULTS: Both techniques showed significant increase of postoperative visual acuity with and without correction, but it was better among the cases operated on by scleral fixation of the intraocular lenses. More than the used technique, the preoperative subluxation grades were crucial as to the results. CONCLUSION: The two surgical techniques for correction of simple or Marfan syndrome-associated ectopia lentis are safe and effective, resulting in significant recovery of visual acuity, although surgical results are completely dependent on the preoperative lens subluxation grades.