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.
Highlights
Heritable Disorders of Connective Tissue (HDCTs) are a group of syndromes that disrupt connective tissue integrity and often cause systemic manifestations
Another risk factor is the biomechanical weakening of the cornea from lower corneal hysteresis (CH), which is associated with a thinner central corneal thickness (CCT) and increased intraocular pressure (IOP) [2]
AD = autosomal dominant, AR = autosomal recessive, CCT = central corneal thickness, laserassisted in-situ keratomileusis (LASIK) = laser assisted in situ keratomileusis, photorefractive keratotomy (PRK) = photorefractive keratectomy, SMILE = small incision lenticule extraction, pIOL = phakic intraocular lens, IOP = intraocular pressure
Summary
Heritable Disorders of Connective Tissue (HDCTs) are a group of syndromes that disrupt connective tissue integrity and often cause systemic manifestations. The concern for post-LASIK ectasia is based on the Ectasia risk score system, which lists abnormal preoperative corneal topography, low residual stromal bed thickness, young age, and thin preoperative corneal thickness as common risk factors in order of significance [1] Another risk factor is the biomechanical weakening of the cornea from lower corneal hysteresis (CH), which is associated with a thinner central corneal thickness (CCT) and increased intraocular pressure (IOP) [2]. This paper details the various clinical presentations of OI, EDS, MFS, LDS, EB, STL, Wagner Syndrome, and PXE and their subtypes to evaluate the spectrum of possibilities for refractive surgery It expands on the ocular manifestations that require consideration and evaluation preceding refractive surgery. It provides a framework to approach the therapeutic possibilities for refractive error correction in each HDCT
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