Ectopia lentis occurs when the zonular filaments have compromised structural integrity due to intrinsic or extrinsic factors. Systemic associations of ectopia lentis include Marfan syndrome, homocystinuria, Weill-Marchesani syndrome, Ehlers-Danlos syndrome, sulfite oxidase deficiency and hyperlysinemia. Ectopia lentis may also occur secondary to trauma, anterior uveal tumors, pseudoexfoliation, hypermature cataracts, and macrophthalmia [1]. Cases of isolated ectopia lentis with no systemic comorbidities or secondary associations do occur. Due to the weakened zonular filaments, the less secured lens may take on a rounded shape, leading to high myopia that is often associated with isolated ectopia lentis [3]. Differentiating syndromic versus isolated ectopia lentis is important to guide clinical management and surveillance of young patients. Recently, genetic mutations to ADAMTSL4, LTPB2, and FBN-1 have been associated with isolated ectopia lentis [2,3,4].

Our patient was a high myope bilaterally, which may predispose to lens sublocation in both eyes, though notably he was negative for mutations in FBN-1 and CBS, which are associated with Marfan syndrome and homocystinuria respectively. These two conditions with associated ectopia lentis have important systemic associations that confer significant cardiac risk to an affected individual. Further genetic evaluation was not pursued for our patient. Currently, there are no guidelines for ongoing medical evaluations of patients with isolated ectopia lentis. For this case, annual cardiac echography was recommended by the genetics department.

Complications of ectopia lentis include amblyopia in children, posterior or anterior dislocation of the lens, cataracts, and lens-induced glaucoma or uveitis. Anterior dislocation of the lens can induce secondary glaucoma, uveitis, and corneal endothelial damage requiring urgent intervention [5,6,7].

Similar to our patient, case reports of patients with anteriorly dislocated lens were most commonly treated surgically with lens extraction and anterior vitrectomy [5, 6, 8,9,10,11]. Of these patients, many had reported scleral fixated intraocular lens placed intraoperatively [5, 9, 10] or as a separate surgery a few months later [6]. It is also reasonable to leave pediatric patients aphakic and manage with aphakic glasses or contact lenses, given the absence of capsular support [11, 12]. Alternative management to surgery does have reported success. A case reported by Garza-Leon and de la Para-Colin treated a completely anteriorly dislocated lens with supine positioning, tropicamide, and phenylephrine [7]. Few of these cases reported decreased endothelial cell count post-operatively [5, 7, 8, 10]; otherwise, patients recovered with good post-operative visual outcomes and intraocular pressures.

In our case, his visual acuity did not improve as much as anticipated. This may be due to a combination of amblyopia from his anisometropia found on initial exam, or injury to the optic nerve or retina from elevated intraocular pressures. As for his right eye, initially his right eye had minimal dislocation and no elevation of intraocular pressure, therefore management was daily pilocarpine and observation. However over time, due to concern for worsening lens position, the right eye subsequently underwent prophylactic intervention with lensectomy and anterior vitrectomy, after which he has done quite well in aphakic correction.