Marfan Syndrome

MARFAN SYNDROME

CONTROVERSIES IN THE SURGICAL TREATMENT OF THE SUBLUXED CRYSTAL, LUXATED, RETINA’S DETACHMENT

 

INTRODUCTION

Marfan syndrome is a hereditary connective tissue disorder that is usually transmitted by autosomal dominant inheritance. Approximately 15% of patients have no family history. They present ophthalmological, cardiological and skeletal manifestations.1,2,3 

It is postulated that the syndrome is produced in 80% of cases by the mutation of the fibrillin-1 (FBN1) gene, located on chromosome 15q21.1 It has also been reported the mutation of the TGF-BR2 gene, which is found on chromosome 3p 24.2-25 and the mutation of the FBN2 gene found on chromosome 5q 23.31. These mutations produce a decrease in the incorporation of fibrillin in the connective tissue matrix.2,4,5,6 The reported incidence is from 1/5000 to 1/20000.2

The systemic clinical picture is characterized by tall stature, long and lax limbs, arachnodactyly, alterations in the chest wall, aortic aneurysm, mitral valve prolapse, dural ectasia.1,2,3

Ocular involvement has major and minor criteria. The subluxation of the congenital lens or ectopia lentis (abnormal position due to incomplete rupture of the zonule or most of the time the zonular adhesions remain intact and only appear narrow and elongated) is considered a major criterion, since it occurs in 50 to 80% of these patients. The location of the subluxation is mainly super-temporal, bilateral and asymmetric.1,2,5

Within the minor criteria are flat corneas, increased axial length, hypoplasia of ciliary muscle or iris. Some authors also refer megalocornea.

Due to subluxation of the lens, patients may present with axial lens myopia, astigmatism of different degrees, diplopia, iridodonesis, amblyopia.1,2,3 There is a risk that the lens will be luxed into the vitreous or anterior chamber, being able to produce uveitis, glaucoma or retinal detachment.2 This last complication also associated it with flat cornea and anteroposterior axis enlargement of the ocular globe. Other alterations of the lens have been reported as colobomas, nuclear cataracts, microspheres, strabismus. Carriers of this syndrome can also present with myopic staphyloma and keratoconus.3,6,7,8

Controversies exist in the management of the subluxated lens, related to the decision of the moment of the surgical intervention, the most adequate technique to be used to avoid the probable intraoperative complications (vitreous loss, iridian prolapse, corneal edema, corneal decompensation, ocular hypertension, dislocation of the ocular lens, hyphema, etc.) and post-operative (uveitis, ocular hypertension, cystoid macular edema, retinal tear, retinal detachment, etc.), or maintain conservative (non-surgical) treatment with overhead or contact lenses.1,8,9

It is mentioned that patients with Marfan syndrome and subluxated lens maintain an adequate accommodative capacity. In children, the treatment of amblyopia is important.8,10

The present report of six cases has the objective of presenting the controversies that had to take the surgical decision or to continue the conservative treatment and the evolution with the chosen treatment.

MATERIAL AND METHODS

Report of six cases, with a diagnosis of Marfan syndrome, who went to the Ophthalmology Service of the Hospital Nacional Arzobispo Loayza for second or third opinion on surgical decision in the period from 2010 to 2016. They were reevaluated systemically and underwent an ophthalmological examination. complete that included visual acuity with and without correction, biomicroscopy, fundus, visuscopy, retinography, refraction with cycloplegia, ocular ultrasound, optical coherence tomography of the optic nerve and macula, corneal topography, specular microscopy. In three of them, computerized perimetry and study of glaucoma were also performed. No genetic study was performed.

PRESENTATION OF CASES

Case 1: A 46-year-old female patient with Marfan syndrome diagnosed at 20 years of age and a history of bilateral elevated ametropia, amblyopia, right eye exotropia (RE); diagnosed at ten years of age; OD evisceration due to ptisis bulbi secondary to two retinal detachment surgeries; with left eye (LE), myopic high, amblyopic, flat cornea, with cataratosic lens dislocated to vitreous chamber (floating), peripheral retinal degeneration in snail slime, epiretinal membrane and antecedent of trabeculoplasty, trabeculectomy with mitomycin C, with antiglaucomatous therapy, maximum without achieving adequate control of advanced open-angle chronic glaucoma, pupiloplasty by congenital iris coloboma. Go to the Ophthalmology Service of the National Hospital Arzobispo Loayza, in 2010 for a second opinion on the possibility of cataract surgery dislocated, as it caused hypertensive crisis due to pupillary block and inflammation. The best corrected visual acuity was 20/200.

It was decided to perform posterior vitrectomy (pars plana), phacofragmentation, without placement of intraocular lens and peripheral laser in December 2010. It evolves with better corrected visual acuity of 20/100, hypertensive uveitis, which is controlled with anti-glaucomatous and anti-inflammatory treatment. In January 2011 a new trabeculectomy was performed at the National Institute of Ophthalmology, evolving with chronic Seidel, ocular hypotonia (2 mmHg), hypotonic maculopathy, optic nerve involvement, retinal angiopathy, visual correction diminution better corrected at 20/400 , for which he received treatment with atropine 1% (3 times a day), autologous serum (every 2 hours), topical antibiotics for a month, soft contact lens. Then the filter ampoule and the scleral flap are checked, Amniotic membrane was placed on two occasions. Currently, the best corrected visual acuity is 20/100, with sporadic seidel to the effort, intraocular pressure 9 mmHg, disc cup ratio 0.7 / 0.8, stationary visual field. Retinography and optical coherence tomography of the nerve and macula show improvement. Get treated with eye lubricants.

Case 02: Patient of 50 years of age, female sex, carrier of Marfan syndrome, diagnosed at 20 years of age, three brothers with Marfan syndrome, minor son with the same syndrome, deceased in the immediate postoperative period of aneurysm dissection of aorta. Pseudophakic OD, high myopia, astigmatism and amblyopia in both eyes (AO), anteroposterior axis increase OI, sequelae of anterior uveitis (RE), flat cornea and AO keratitis, OD exotropia, with a history of cataract surgery, rhegmatogenous retinal detachment , posterior vitrectomy, placement of silicone oil, retinal panfotocoagulation in RE, and retinal photocoagulation OI in four opportunities for lattice retinal degeneration in 2014. Attend the Ophthalmology Service of the National Hospital Arzobispo Loayza in the same year, for second opinion.

The best corrected visual acuity in the right eye was hand movement at 10 cm, and 20/60 -1 in the left eye. It was decided to perform a second retinal surgery with posterior vitrectomy, placement of silicone oil, C3F8 gas, by recurrent retinal detachment in RE in June 2016. After a month, a posterior capsulotomy was performed with laser YAG, after two months recurrence of the detachment so it is reoperated with scleral cerclage, vitrectomy and placement of silicone oil. It evolves with chronic uveitis, corneal edema, retina applied in RE and incipient subluxation of cataract, keratitis and posterior vitreous detachment in LE. The best corrected visual acuity in OD: light perception, and in OI: 20 / 50-2.

Lanca Alzamora MD, PhD 1,4 , Luis W. Lu MD, FACS 1,2,4,5 , José A. Roca MD, MsC , Enrique Vargas MD , Vania Castro MD1 , Alfonso Cárdenas MD 1,4 , Guillermo Barriga, MD, MsC 1,4 , Fernando Mendiola MD , Álvaro Yáñez , Andrew N. Lu , Augusto Sapaico MR31, Wilson Janampa MR21, 4

1Ophthalmology Service, Arzobispo Loayza National Hospital, Lima, Peru. 2Eye Consultants of Arizona, USA. 3 National Institute of Ophthalmology. 4Faculty of Medicine Alberto Hurtado, Peruvian University Cayetano Heredia, Lima, Peru. 5Preceptor, Arizona State University, 6New York University Abu Dhabi, United Arab Emirates.7Midwestern University, Arizona, USA, Pre Medic Medical Center8

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