A Case of Pediatric that the optometrist first makes an accurate diagnosis in these patients, then appropriately Ectopia Lentis: Systemic refers them to other professionals for further Associations and consultation and management, and finally Management Options continues to monitor the visual development of these patients over the course of their lives. Colleen Dye, OD, SUNY College of Optometry Case Report: A three-year-old black male presented with bilateral lens subluxation of unknown etiology, in addition to high myopia, strabismus, and decreased visual acuity. He is Abstract being managed for refractive amblyopia and Background: Ectopia lentis is a strabismus and was referred for a consultation
ARTICLE subluxation, displacement, or mal for surgical management of ectopia lentis. position of the crystalline lens of the eye. It can be a congenitally inherited Conclusion: Ectopia lentis has numerous condition or it can be acquired and there are etiologies and a variety of management several etiologies. Systemic conditions should considerations that optometrists need to be be considered when a patient presents with cognizant of when they encounter a pediatric ectopia lentis of unknown etiology, including patient with this condition. Marfan Syndrome, Weill-Marchesani Syndrome, Ehlers-Danlos Syndrome, and homocystinuria. Surgical management of ectopia lentis is often INTRODUCTION indicated, as potential benefits outweigh Ectopia lentis is a subluxation, displacement, possible risks and complications secondary to or malposition of the crystalline lens of the eye. surgical intervention. However, the condition It can be congenital or acquired at any point can also be non-surgically managed. It is crucial during one’s lifetime. Patients with ectopia lentis will typically present with symptoms Correspondence regarding this article should be consistent with decreased visual acuity. They emailed to Colleen Dye, OD, at [email protected]. All may complain of blurry vision, which can be statements are the author’s personal opinion and may not reflect the opinions of the College of Optometrists variable due to any movement of the ectopic 1 in Vision Development, Vision Development & lens. Monocular diplopia may also be present. Rehabilitation or any institution or organization to An ectopic lens will be evident during ocular which the author may be affiliated. Permission to use reprints of this article must be obtained from the editor. examination, but other signs of the condition Copyright 2016 College of Optometrists in Vision include high refractive error or irregular Development. VDR is indexed in the Directory of Open astigmatism, irregular red reflexes, and Access Journals. Online access is available at covd.org. https://doi.org/10.31707/VDR2016.2.1.p24 phacodonesis, or a trembling, vibrating lens with eye movement.2 There are a wide variety Dye C. A case of pediatric ectopia lentis: Systemic of etiologies for this condition. When a patient associations and management options. Vision Dev & presents with ectopia lentis, it is prudent for Rehab 2016;2(1):24-33. the optometrist to consider all the possible etiologies and systemic conditions associated with the ocular presentation because it will aid Keywords: ectopia lentis, lens subluxation, in forming differential diagnoses and ultimately Marfan Syndrome, aphakia, pseudophakia aid in the management of the patient.
24 Vision Development & Rehabilitation Volume 2, Issue 1 • March 2016 Etiology its proper anatomical position. Often, non- Ectopia lentis can occur both with and traumatic ectopia lentis is revealed in childhood. without systemic associations.3 If the condition This is important to note because there are is present without a systemic association risks for the patient’s visual development but another family member also has ectopia during this critical period. Ametropia and any lentis, it is often considered familial. If there changes in the amount of refractive error are is no positive family history of the condition risk factors for the development of amblyopia. and it is without a systemic association, it is The degree of functional vision and how commonly referred to as simple ectopia lentis. patients can capitalize on their best level of More frequently, however, an underlying vision needs to be taken into account for systemic condition can be uncovered that appropriate optometric management. causes this condition. Common among the systemic associations are Marfan Syndrome, Case Report homocystinuria, Ehlers-Danlos Syndrome, and A three year old black male presented Weill-Marchesani Syndrome. These conditions with his mother to the University Eye Center all result in an inability of the zonules to hold for his first comprehensive eye exam. Chief the crystalline lens in its proper position.3 There complaints were an eye turning out, squinting are genetic variations that are associated with with both eyes, and holding objects very close each of these conditions.4 What many of the to see them. His mother went on to explain genetic variations have in common are defects that the patient would hold objects close to in microfibril assembly necessary to create the one eye, usually his right, and would often zonules holding the crystalline lens in its proper close one eye when looking at an object. position.5 Congenital ectopia lentis can be He had no known medical conditions, inherited with or without an association with did not take any medications, and had no one of these conditions.3 If ectopia lentis is known allergies. Pregnancy was reported to not congenital, it can be acquired. Most often, be full term with no complications at birth it is acquired secondary to trauma. It can also and his birth weight was over seven pounds. be iatrogenic, if zonular dehiscence is induced Development was reported to be normal as during cataract surgery.4 Other secondary well, as the patient walked around 15 months causes include high myopia and buphthalmos, and talked around 12 months of age. His pseudoexfoliation syndrome, cataracts, and mother reported that the pediatrician did not some tumors. Ectopia lentis is almost always express any concerns regarding an eye turn bilateral if there is a systemic association, but or any ocular problems, but recommended an can be asymmetric in some cases of Marfan eye exam given her stated concerns. Syndrome. Acquired cases of ectopia lentis Family history was given by the patient’s such as those due to trauma are more likely to mother. She reported that she has high be unilateral.6 The epidemiological statistics hyperopia and felt that her son was acting of ectopia lentis will vary depending on the similarly to the way she did as a child. She also underlying etiology of the condition. The reported that she has subluxated lenses, but treatment and management of these patients was unable to provide any further information can also vary depending on the etiology. regarding her ocular condition. She denied Regardless of the cause of ectopia lentis, having surgery on either eye. The family there are serious visual consequences of its history was not significant for any other ocular presence. There are refractive error changes or medical conditions. that will occur when the crystalline lens loses At the initial exam, unaided distance visual its zonular support and no longer occupies acuities were 20/150 in the right eye and
25 Vision Development & Rehabilitation Volume 2, Issue 1 • March 2016 20/350 in the left eye with HOTV matching. and determine if surgical removal of both Extraocular motility was full in both eyes, crystalline lenses would be appropriate. but with poor fixation and supportive head The patient’s mother was extensively and body movement. There was a >40 prism educated on the importance of full-time diopter intermittent left exotropia present spectacle correction for her son. Additionally, at both distance and near with occasional a strong emphasis was placed on consultation alignment noted. No random dot stereogram with an ophthalmologist regarding possible shapes or Wirt Circles were appreciated with surgical management for the patient’s stereopsis testing. Pupillary testing was normal. condition. Regardless of whether surgical The Bruckner reflex was unequal, with the intervention was deemed appropriate, the left eye bright and white relative to the right. patient was going to need visual rehabilitation in Confrontation visual fields were grossly full. addition to the spectacle correction to address Retinoscopy revealed -17.00sph in the right eye amblyopia and strabismus. The patient’s and -14.00sph in the left eye but was variable mother was informed that occlusion therapy and with a very dull reflex in each eye. Anterior as well as vision therapy would be indicated segment evaluation was initially unremarkable, and started after the results of the surgical including normal corneal diameters. However, consultation were obtained. Despite this, there upon dilation, it was noted that lenses were was relative non-compliance. The patient was subluxated inferiorly in both eyes. It was seen in the Pediatric Ocular Disease clinic for difficult to assess the posterior pole given the follow up four months later and while glasses lens dislocation in addition to poor patient had been ordered, they had not been picked cooperation at this point during the exam. He up and the patient remained uncorrected. was given a spectacle prescription of -15.00sph An appointment for the consultation with OU, which was estimated based on the the ophthalmologist was never scheduled. fluctuating reflex caused by on intraocular lens Examination findings, including best-corrected movement. Ultimately this patient was referred visual acuity, refraction, and position of the for a consultation in the Pediatric Ocular subluxated lenses in each eye, were stable. Disease Unit. The aided visual acuity, binocular Again, the appropriate referral was made to alignment, fixation abilities, and lens condition the ophthalmologist. At this point, no direct and position would all be re-assessed. referral was made to the pediatrician, but the The consultation was performed within the possible hereditary etiologies were discussed week, and distance acuities with correction with the patient’s mother. Given the possible in a trial frame were 20/100+ in the right eye systemic conditions serving as an etiology for and OS 20/300 in the left. There was only a lens subluxation and their possible adverse mild improvement in the aided acuity, likely effects on overall systemic health, a more secondary to some degree of refractive thorough systemic work-up should have been amblyopia in addition to any inherent emphasized even further. image degradation or distortion due to lens One year after his initial presentation, he movement. The dilation at this exam provided presented to the clinic again for follow up. slightly better posterior segment views due to At this time, he had obtained his spectacle more complete dilation and improved patient prescription and had been wearing them full- cooperation. It was determined that the time for the past nine months. However, he still lenses were subluxated inferior and temporal had not been to the referred ophthalmologist in each eye. The patient was then referred for consultation. At this point, the patient to an ophthalmologist for evaluation under was in kindergarten and his mother noted anesthesia to better assess ocular health that he was having difficulty learning letters,
26 Vision Development & Rehabilitation Volume 2, Issue 1 • March 2016 and she potentially attributed this to his poor vision. A variable head tilt was noted during acuity testing possibly because the patient was attempting to align his eyes or even his intraocular lenses in a manner that allowed him to look through a more clear visual axis. A constant alternating exotropia of 45 prism diopters was noted at distance and near with right eye fixation preference. Stereopsis was tested with random dot stereograms and the Lang stereotest, but the patient was not able to appreciate any of the shapes. The lens subluxation remained stable in each eye. B-scan ultrasonography (See Figure 1) was performed due to poor visualization of the fundus at this exam. It revealed clear vitreous with a flat and intact retina in both eyes. The patient was yet again referred to an ophthalmologist and it was confirmed that he was scheduled for a surgical consultation. He was to return in three months for further optometric management. Unfortunately, he has not been back to our clinic, so the results of the consultation, if it was attended, are unknown.
Discussion Causes of Ectopia Lentis with Systemic Associations B-scan ultrasound, OD above, OS below. Since ectopia lentis can present both Figure 1: with and without systemic associations, it is important to keep the systemic associations in the body, notably the ocular, cardiovascular, in mind as we make differential diagnoses and skeletal systems.3 It can be autosomal for the etiology. These patients may present dominant in inheritance with the presence of for eye care first, and may require additional a mutation of the FNB1 gene, coding for a medical evaluation and treatment if they are fibrillin protein. These patients will often have found to have a systemic cause underlying a positive family history of the Syndrome. ectopia lentis. The proper referrals need to be Marfan Syndrome can also occur from a made after the eye examination is complete, spontaneous mutation. Overall, it is estimated especially if there is high suspicion of any of to occur in 1 in 5000 people. Lens subluxation the common systemic associations. The most occurs in about 50-80% of patients with common systemic condition associated with Marfan Syndrome. It is a main feature in the subluxated lenses is Marfan Syndrome, and established guidelines for diagnosing Marfan others include Weill-Marchesani Syndrome, Syndrome, known as the Ghent criteria.3 There Ehlers-Danlos Syndrome, and homocystinuria. is a high degree of clinical variability across all Marfan Syndrome is a connective tissue ocular and systemic manifestations of Marfan disorder that has an effect on many systems Syndrome. While some signs of the Syndrome
27 Vision Development & Rehabilitation Volume 2, Issue 1 • March 2016 can be detected early, the formal diagnosis is anterior chamber, formation of peripheral not usually made until the patient is around 20 anterior synechiae, and pupillary block.9 These years old.7 patients can have a range of joint problems Marfan Syndrome has other ocular associa and the function of cardiac tissue can also tions that can be useful to aid in diagnosis. A be negatively affected.3 Diagnosis typically study showed that mean keratometry values relies on clinical findings, which in addition were significantly lower in patients with Marfan to lens subluxation, include short stature and Syndrome than in control eyes.8 Similarly, the joint stiffness. Molecular genetic tests can be mean corneal thickness at the thinnest point performed to help confirm the diagnosis of was significantly lower in patients with Marfan Weill-Marchesani Syndrome in the presence Syndrome than in control eyes. Patients with of these clinical findings. The mean age of ectopia lentis and confirmed Marfan Syndrome diagnosis of an ocular manifestation attributed also demonstrated significantly higherto Weill-Marchesani Syndrome is 7.5 years amounts of corneal astigmatism. Ultimately, old.10 There was no history of joint problems there are tests that can be performed on in the patient presented in this case, which patients in-office to further support Marfan moved Weill-Marchesani Syndrome lower on a Syndrome as a differential diagnosis for the list of differential diagnoses for ectopia lentis patient, requiring a referral to a pediatrician in this patient. or primary care physician. Ehlers-Danlos Syndrome has ocular mani Skeletal abnormalities are common in festations that include not only ectopia Marfan Syndrome, including overgrown long lentis, but also myopia, keratoconus, and bones of the limbs. Typical facial characteristics scleral fragility.3 In this syndrome, there is a include down slanting palpebral fissures and mutation for type V collagen. This is required enophthalmia. Cardiac complications are an for fibrillogenesis. Other systemic findings important cause of morbidity and mortality in patients with Ehlers-Danlos Syndrome for these patients. Aortic root aneurysm, include joint hypermotiliby, easy bruising, and dissection, or rupture can have serious delayed wound healing with scarring. The consequences. Mitral valve dysfunction is seen overextensibility of the abnormal connective in about two thirds of patients.3 The patient tissue can lead to lens subluxation as well in this case did not exhibit any of the typical as subluxation of other joints in the body.11 characteristics of Marfan Syndrome upon Children with Ehlers-Danlos Sydrome are often gross observation, patient medical history, or diagnosed based on clinical examination and family history. family history. There is variability in the amount Weill-Marchesani Syndrome is a more and degree of clinical manifestations, but rarely occurring connective tissue disorder. children will often initially present with delayed Lens subluxation is a notable feature of motor development and joint instability.12 The this syndrome and can be due to a lack of patient in this case did not have any history of microfibrils. The microfibrils are not present these types of systemic health complications, to properly form the zonules that support the such as easy bruising or delayed wound lens.3 An additional ocular feature of Weill- healing, and this rare syndrome moved down Marchesani Syndrome is spherophakia, where on a list of differential diagnoses for the the zonules are in fact present but they do not etiology of the patient’s subluxated lenses. have the proper tension to support the lens due Patients with homocystinuria can also to this structural defect. The lack of support present with ectopia lentis. This rare metabolic can cause a host of other complications, abnormality can be inherited in an autosomal such as increased myopia, narrowing of the recessive pattern. Ultimately, it leads to
28 Vision Development & Rehabilitation Volume 2, Issue 1 • March 2016 degenerative changes in the zonular fibers. The challenging surgery, with several intra- and post- building blocks of these fibers are microfibrils, operative complications. Zonular pathology which are rich in half-cystine residues. If the and other peripheral retinal changes inherent homocysteine levels are elevated, there is to the anatomy of these eyes are predisposing loss of the structure of these proteins, which factors for potential surgical complications.3 In will therefore not support the crystalline the past, it was considered high-risk surgery lens.3 Other systemic manifestations of and other more conservative approaches to homocystinuria include developmental delays, management were taken. Today, the surgical intellectual disability, and skeletal or vascular approach is considered less daunting given abnormalities. Newborns can be screened for the improvements in surgical techniques and homocystinuria with a blood test, and then developments in technology. additional plasma or urine analysis is used to During the surgical evaluation, the degree confirm the diagnosis. In patients who have of zonular loss is taken into consideration by homocystinuria, ectopia lentis is not usually the surgeon. If the ectopia lentis is associated present in infancy, and developmental delays with a certain systemic condition, there can may be the first notable abnormality prompting be global weakness of the zonular fibers.5 further assessment for the condition.13 Surgical techniques will vary given the state There are several underlying systemic of the zonules at the time of the surgical disease processes that include ectopia lentis as consultation. one of their clinical manifestations. While all of Surgical management for ectopia lentis can them are rather rare, Marfan Syndrome is the include lensectomy, thus leaving the patient most prevalent among the systemic associations aphakic and requiring optical correction post- discussed. While the patient in this case did not surgery. An intraocular lens (IOL) can also be demonstrate any visible skeletal manifestations inserted to replace the crystalline lens. If this is consistent with the Syndrome, it is still highest the case, one of the goals of the surgery needs on the list of differential diagnoses regarding to be to stabilize the IOL and minimize intra- the etiology of the patient’s subluxated operative and post-operative complications.5 lenses. It is the most prevalent condition of With zonular compromise, it can be more those discussed and it is often not formally difficult to secure an intraocular lens, so diagnosed until the patient is around 20 years modifications can be made to traditional IOL old. The lens subluxation in this patient may placement. A capsular tension ring (CTR) may very well be the first clinical manifestation of be used to promote capsular bag and IOL this patient’s systemic disease. The patient stability. A posterior chamber IOL can also be should be regularly followed by an optometrist fixed to the sclera to promote security. An IOL or ophthalmologist for lens subluxation, can also be fixed to the iris and supported refractive amblyopia, strabismus, and overall by the structures in the angle, either in the visual development. He also should be referred anterior or posterior chambers.14 to a primary care physician, cardiologist, and In one study of pediatric patients, 37 eyes orthopedist for baseline evaluations. These with non-traumatic ectopia lentis underwent professionals can also monitor the patient over lens extraction surgery. An IOL was inserted time to confirm or reject the tentative diagnosis with a capsular tension ring which was then as the patient develops. sutured to the sclera anterior the capsular plane in the ciliary sulcus. No eyes participating Surgical Management in the study were left aphakic. The causes Often surgery is indicated for patients with of the ectopia lentis in patients in this study ectopia lentis. Historically, this was considered a varied. Most patients had Marfan Syndrome,
29 Vision Development & Rehabilitation Volume 2, Issue 1 • March 2016 some had another systemic association iris and sclera. If an IOL is secured to either causing ectopia lentis, some had inherited of these tissues, further complications have lens dislocation without systemic associations, been reported, including pupillary block, lens and some had idiopathic lens dislocation. decentration, and retinal detachment.14 Some Many of the post-surgical eyes developed studies show that use of an IOL in these types visual axis opacification of the IOL, which of cases can be advantageous and lead to required additional surgical procedures for the better visual acuity outcomes, as compliance patient to achieve clear vision. Additionally, in with spectacles or contact lenses does not a small number of patients the IOL became become an issue.14 However, further studies dislocated, requiring additional suturing for with long-term follow up results are needed stability. It was concluded, however, that this to determine the safety of using an IOL in type of scleral-fixed CTR with an IOL can patients with ectopia lentis due to Marfan be safe and effective to use in children with Syndrome. ectopia lentis. This system provided adequate centration control of the IOL and a positive Risks and Benefits of Surgical Management visual outcome.4 A common complication of lens removal Another study evaluated children with in pediatric patients is the development hereditary lens subluxation and managed of glaucoma or ocular hypertension. Many these cases with lensectomy and aphakic studies have examined the frequency and correction. The criteria used for surgical prevalence of these conditions occurring after intervention included progressive subluxation surgery secondary to a pediatric cataract. of the lens with bisection of the pupil, best One evaluated pediatric patients undergoing corrected visual acuity of 20/60 or worse cataract extraction and leaving them aphakic. at distance or less than J5 for near, and It found that there was a high prevalence of development of cataract that would interfere ocular hypertension and glaucoma at the 5 with daily visual functions. The average age and 10 year post-surgical state.16 Another study of children at the time of surgery was 6.4 examined pediatric subjects with cataracts +/- 4.6 years. The study found that there was that underwent lensectomies without IOL significant improvement in visual acuity post- implantation. It found somewhat of a threshold, operatively in all patients except those who where glaucoma was more common if the had deep amblyopia preoperatively. Over surgery was performed after the patient was 9 eighty four percent of patients achieved 20/40 months old.17 This demonstrates the potential or better. Long-term post-surgical outcomes importance of early intervention to minimize a were measured, with IOP remaining stable for major sight-threatening complication. up to 19 years after surgery in some cases. The patient in the case presented also One patient developed a peripheral retinal had high myopia contributing to his reduced tear 12 years post-operatively, but the authors vision. One method for treating high myopia argued that this complication could have in an otherwise unremarkable eye is by clear happened in an eye that did not have surgical lens extraction. One study looked at the intervention.16 effect of this type of surgery on patients with Ectopia lentis due to Marfan syndrome high myopia and neurobehavioral disorders.18 poses a unique challenge due to the mutation Children with neurobehavioral disorders may in the fibrillin gene, which is present in several be non-compliant with other management ocular tissues. The fibrillin is deficient in not options for high bilateral myopia, such as only the lens capsule and zonules leading to spectacles or contact lenses. This leads to ectopia lentis, but it is also deficient in the refractive amblyopia and the poor vision
30 Vision Development & Rehabilitation Volume 2, Issue 1 • March 2016 can exacerbate any behavioral issues. Their optometric care to promote optimal visual visual attention and visual cues necessary for development. In cases of refractive amblyopia, learning, recognizing others, and navigating optical correction alone can improve visual around space will be limited. In the study, acuity to a certain degree. From there, the uncorrected acuity improved in all 26 eyes of patient should be prescribed some form of the 13 patients. Myopic regression was noted occlusion therapy as well as active in-office in 69% of the patients at an average rate of vision therapy. The young patient in this -0.16D per year with younger age of surgery case would certainly need to improve acuity, positively correlating to this change. The fixation, and oculomotor control. In addition, study discussed their low complication rate, his ocular alignment should be addressed. His making this procedure an effective option for binocularity can be developed and improved improving visual function in these types of with anti-suppression or diplopia awareness patients. In the patient case presented, this techniques in addition to vergence activities. type of lensectomy may be considered. Based on the nature of ectopia lentis, patients diagnosed with the condition will Non-surgical Management likely have reduced or possibly non-existent Despite potential difficulties of surgical accommodative abilities. If phakic, patients management in cases with a systemic etiology, can work to improve the quality of their there are potential complications of deferring accommodative skills with therapy techniques surgery. If the lens is dislocated, it has the ability and ultimately additional plus lens power at to move around within the globe. This could near may be beneficial. cause an unusual change in refractive error, often Young patients with multiple factors affect with varying amounts of astigmatism. The lens ing their visual performance may need special could move forward, more anteriorly into the attention to their developing vision as they anterior chamber. This could lead to pupillary enter school. Optometrists managing these block with angle closure. When this occurs, the patients should advocate for services that patient will have increased intraocular pressure can benefit the patient in the classroom, such and ultimately angle closure glaucoma. The as large print materials, preferred seating, lens may move backward, more posterior into or additional time for testing. A referral to a the vitreous. This backward motion could cause pediatric low vision specialist would also be dangerous traction on the retina. The lens critical to ensure that these types of patients proteins may also leak, causing inflammation in maximize the level of vision that they do have. the posterior segment.15 These problems can These doctors will be able to ensure that the often be treated, but prior surgical intervention patient can recognize people and objects, may have prevented any unnecessary safely navigate through space, and successfully complications. Fortunately, the patient in function in the educational environment. this case did not experience any of these In addition to the best refraction and vision complications to our knowledge. However, it therapy, optical aids can be prescribed to was considered extremely important to at least these children to enhance their functional rule out the need for surgical intervention first vision. A dome magnifier, for example, would in order to minimize any more serious sight- be a simple and effective device for a child threatening conditions. with low vision to use, as it sits directly on The optometrist must consider several a page of text, is sturdy, and can be easily other non-surgical means of managing a manipulated. Tablet devices can also be patient such as the one described in this useful, as it is simple to magnify or zoom in case. The patient will clearly need continued on text or pictures. While there may be a team
31 Vision Development & Rehabilitation Volume 2, Issue 1 • March 2016 of professionals managing different aspects references of a complicated case, the optometrist will 1. Kim SY, Choung HK, Kim SJ, Yu YS. Long-term results best understand how the patient is taking in, of lensectomy in children with ectopia lentis. J Pediatr Ophthalmol Strabismus 2008;45:13-9. processing, and then using visual information. 2. Wu-Chen WY, Letson RD, Summers CG. Functional and They will therefore play a critical role in structural outcomes following lensectomy for ectopia addressing the visual needs of the patient to lentis. J AAPOS 2005:9:353-7. promote proper development and success in 3. Sadiq MA, Vanderveen D. Genetics of ectopia lentis. an academic setting. Seminars in Ophthalmology 2013:28(5-6)313-20. 4. Konradsen T, Kugelberg M, Zetterstrom C. Visual outcomes and complications in surgery for ectopia lentis Conclusion in children. J Cataract Refract Surg 2007;33:819-24. Ectopia lentis has both several etiologies 5. Hoffman RS, Snyder ME, Devgan U, Allen QB, Yeoh R, and several management considerations that Braga-Mele R. Management of the subluxated crystalline optometrists need to be cognizant of when lens. J Cataract Refract Surg 2013;39:1904-15. they encounter a patient with this condition. 6. Simon JW, Cotliar JM, Burke LW. Familial unilateral ectopia lentis. J AAPOS 2007;11(6):620-1. As health care professionals, optometrists 7. Dietz, HC. Marfan Syndrome. GeneReviews [serial on need to consider possible systemic health the Internet]. 2014 Jun. Available from: http://goo.gl/ associations with ectopia lentis and make the H0cXXZ proper referrals to other specialized doctors. 8. Konradsen TR, Koivula A, Kugelberg M, Zetterstrom Surgical intervention for lens subluxation C. Corneal curvature, pachymetry, and endothelial cell density in Marfan syndrome. Acta Ophthalmol needs to be seriously considered and co- 2010;90:375-9. management with an ophthalmologist will 9. Khan AO, Aldahmesh MA, Al-Ghadeer H, Mohamed JY, be necessary. Pediatric patients with ectopia Alkuraya FS. Familial spherophakic with short stature lentis need to be closely monitored, as caused by a novel homozygous ADAMTS17 mutation. Ophthalmic Genetics 2012;33(4):235-9. their vision is still developing. They will be 10. Tsilou E, MacDonald IM. Weill-Marchesani Syndrome. seeing the world differently regardless of the GeneReviews [serial on the Internet]. 2013 Feb. Available management option selected. Optometrists from: http://goo.gl/d5wt9G will need to re-assess these patients’ visual 11. Moller MB, Kjaer M, Svensson RB, Andersen JL, status regularly and manage amblyopia Magnusson SP, Nielsen RH. Functional adaptation of tendon and skeletal muscle to resistance training in appropriately. Patients’ visual skills such as three patients with genetically verified classic Ehlers their oculomotor control and vergence abilities Danlos Syndrome. Muscles Ligaments Tendons J 2014 should also be assessed. These patients may Jul-Sep;4(3):315-23. be at a disadvantage in terms of their visual 12. Malfait F, Wenstrup R, De Paepe A. Ehlers-Danlos Syndrome, Classic Type. GeneReviews [serial on the acuity, so optometrists should encourage high Internet]. 2011 Aug. Available from: http://goo.gl/ quality visual skills. Disease processes such s8F1Fe as glaucoma are a serious complication for 13. Picker JD, Levy HL. Homocystinuria caused by many of these patients, reinforcing the need cystathionine beta-synthase deficiency. GeneReviews [serial on the Internet]. 2013 Nov. Available from: http:// for regular monitoring. Treating patients with goo.gl/DGTUFq ectopia lentis involves treating more than 14. Utz VM, Coussa RG, Traboulsi EI. Surgical management just their crystalline lenses, and they can be of lens subluxation in Marfan syndrome. J AAPOS lifelong patients. 2014;18:140-6. 15. Anteby I, Isaac M, BenEzra D. Hereditary subluxated lenses, visual performances and long-term follow-up Disclosure after surgery. Ophthalmology 2003;110:1344-8. The author has no commercial associations 16. Egbert JE, Christiansen SP, Wright MM, Young TL, or conflicts of interest in connection with the Summers CG. The natural history of glaucoma and ocular manuscript. hypertension after pediatric cataract surgery. J AAPOS 2006;10:54-7.
32 Vision Development & Rehabilitation Volume 2, Issue 1 • March 2016 17. Rabiah PK. Frequency and predictors of glaucoma after pediatric cataract srgery. Am J Ophthalmol 2004;137:30-7. AUTHOR BIOGRAPHY: Colleen Dye, OD 18. Tychsen L, Packwood E, Hoekel J, Lueder G. Refractive New York, New York surgery for high bilateral myopia in children with neurobehavioral disorders: 1. Clear lens extraction and Dr. Dye graduated from SUNY College refractive lens exchange. J AAPOS 2005;10(4):357-63. of Optometry in 2014. She then went on to complete a residency in Pediatric Optometry through SUNY in 2015. She continues to specialize in pediatric optometry working in a private practice in New York.
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