Controversy and Consideration of Refractive Surgery in Patients with Heritable Disorders of Connective Tissue

Abstract

Heritable Disorders of Connective Tissue (HDCTs) are syndromes that disrupt connective tissue integrity. They include Osteogenesis Imperfecta (OI), Ehlers Danlos Syndrome (EDS), Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS), Epidermolysis Bullosa (EB), Stickler Syndrome (STL), Wagner Syndrome, and Pseudoxanthoma Elasticum (PXE). Because many patients with HDCTs have ocular symptoms, commonly myopia, they will often present to the clinic seeking refractive surgery. Currently, corrective measures are limited, as the FDA contraindicates laser-assisted in-situ keratomileusis (LASIK) in EDS and discourages the procedure in OI and MFS due to a theoretically increased risk of post-LASIK ectasia, poor wound healing, poor refractive predictability, underlying keratoconus, and globe rupture. While these disorders present with a wide range of ocular manifestations that are associated with an increased risk of post-LASIK complications (e.g., thinned corneas, ocular fragility, keratoconus, glaucoma, ectopia lentis, retinal detachment, angioid streaks, and ocular surface disease), their occurrence and severity are highly variable among patients. Therefore, an HDCT diagnosis should not warrant an immediate disqualification for refractive surgery. Patients with minimal ocular manifestations can consider LASIK. In contrast, those with preoperative signs of corneal thinning and ocular fragility may find the combination of collagen cross-linking (CXL) with either photorefractive keratotomy (PRK), small incision lenticule extraction (SMILE) or a phakic intraocular lens (pIOL) implant to be more suitable options. However, evidence of refractive surgery performed on patients with HDCTs is limited, and surgeons must fully inform patients of the unknown risks and complications before proceeding. This paper serves as a guideline for future studies to evaluate refractive surgery outcomes in patients with HDCTs.

Outcomes and Complications in Patients With Hypermobile Ehlers–Danlos Syndrome Who Have Undergone Laser In Situ Keratomileusis Surgery

“…A hypermobile EDS patient with steep corneas may be at too high of a risk of postrefractive corneal ectasia to undergo surgery, but a patient with normal corneal tomography, a central corneal thickness of at least 500 μm, white sclera without any uveal show, and low to moderate myopia (<−7.00 D spherical equivalent) may be a candidate. 15…”

“…18 In our case series of 12 patients with hypermobile EDS who underwent LASIK, 1 patient developed bilateral corneal ectasia, showing that patients with EDS still may be at higher risk of developing this complication. However, recent work by Moshirfar et al 15 suggests that because of the variability in ocular findings in hypermobile EDS, this diagnosis should not immediately disqualify a patient from refractive surgery. Instead, patient characteristics should be examined at an individual level.…”

“…5,6,12–14 Ocular findings in patients with hypermobile EDS are also highly variable, so perhaps this diagnosis should not completely disqualify a patient from refractive surgery. 15 In addition, many patients may get refractive surgery before learning of their EDS diagnosis.…”

Systemic contraindications for laser vision correction – an overview

“…Heritable disorders of connective tissue (HDCTs) are a group of diseases that compromise the connective tissue integrity. Many HDCTs, including: osteogenesis imperfecta (OI), Ehlers-Danlos syndrome (EDS), Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), epidermolysis o n l y bullosa (EB), Stickler syndrome (STL), Wagner syndrome and pseudoxanthoma elasticum (PXE) cause ocular manifestations such as high myopia [18]. According to the FDA requirements, EDS constitutes an absolute contraindication for LASIK.…”

Special Issue on Refractive Surgery

“…There are contraindications to this procedure. There is a controversy regarding refractive surgery in patients with heritable disorders of connective tissue (HDCT) [7]. These disorders disrupt connective tissue integrity and include diseases such as osteogeneisis imperfecta and Marfan and Ehlers-Danlos Syndromes.…”