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A Case of Pediatric Ectopia Lentis: Systemic of Etiologies for This Condition

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A Case of Pediatric Ectopia Lentis: Systemic of Etiologies for This Condition 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 sublux ation, displacement, or mal- for surgical management of ectopia lentis. posi tion 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
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