Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations

Zhang, Wenlin; Margines, J. Ben; Jacobs, Deborah S.; Rabinowitz, Yaron S.; Hanser, E. Maryam; Chauhan, Tulika; Chung, Dang Huu; Bykhovskaya, Yelena; Gaster, Ronald N.; Aldave, Anthony J.

doi:10.1097/ico.0000000000002002

Cited by 15 publications

(17 citation statements)

References 48 publications

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“…2020), need of invasive therapeutics as corneal cross‐linking or corneal graft, and risks of cecity with corneal melting and perforation (Zhang et al. 2019). Considering the intense burden of air pollution in past decades, the association between geographic origins and redox imbalance in tissues of keratoconus could be explained by the free radical aggressions related to biomass burning‐derived, particulate matters, and fossil fuel exhausts (Daiber et al.…”

Section: Discussionmentioning

confidence: 99%

Oxidative and antioxidative stress markers in keratoconus: a systematic review and meta‐analysis

Navel

Malecaze

Pereira

et al. 2020

Acta Ophthalmologica

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Purpose To conduct a systematic review and meta‐analysis on the levels of oxidative stress markers and antioxidants in keratoconus compared to healthy subject. Method The PubMed, Cochrane Library, Embase, Science Direct and Google Scholar databases were searched on 1st June 2020 for studies reporting oxidative and antioxidative stress markers in keratoconus and healthy controls. Main meta‐analysis was stratified by type of biomarkers, type of samples (tears, cornea, aqueous humour and blood) and type of corneal samples (stromal cells, epithelium and endothelium). Results We included 36 articles, for a total of 1328 keratoconus patients and 1208 healthy controls. There is an overall increase in oxidative stress markers in keratoconus compared with healthy controls (standard mean deviation (SMD) = 0.94, 95% confidence interval (95% CI) 0.55–1.33), with a significant increase in reactive oxygen and nitrogen species (1.09, 0.41–1.78) and malondialdehyde (1.78, 0.83–2.73). There is an overall decrease in antioxidants in keratoconus compared with healthy controls (−0.63, −0.89 to −0.36), with a significant decrease in total antioxidant capacity/status (−1.65, −2.88 to −0.43), aldehyde/NADPH dehydrogenase (−0.77, −1.38 to −0.17), lactoferrin/transferrin/albumin (−1.92, −2.96 to −0.89) and selenium/zinc (−1.42, −2.23 to −0.61). Oxidative stress markers were higher in tears and in cornea of keratoconus than in aqueous humour, and antioxidants were decreased in tears, aqueous humour and blood without difference between sample type. Oxidative stress markers increased in stromal cells and antioxidants decreased in endothelium. Conclusion Oxidative stress markers and antioxidants were dysregulated in keratoconus, involving an imbalance of redox homeostasis in tears, cornea, aqueous humour and blood.

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Section: Discussionmentioning

confidence: 99%

Oxidative and antioxidative stress markers in keratoconus: a systematic review and meta‐analysis

Navel

Malecaze

Pereira

et al. 2020

Acta Ophthalmologica

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“…Patients with EDS can present with blue sclera, epicanthic folds, floppy eyelids, widely spaced eyes, strabismus, high myopia with retinal detachment, keratoglobus/keratoconus, dry eyes, corneal fragility, and angioid streaks [17,34]. Classical, Kyphoscoliotic, and BCS subtypes are associated with significant ophthalmologic findings (i.e., globe rupture) [35,36]. The other subtypes present with minor ophthalmologic findings, except myopathic and periodontal EDS, with no reported eye findings [6].…”

Section: Ehlers Danlos Syndromementioning

confidence: 99%

“…For kyphoscoliotic EDS and BCS, refractive surgery should not be pursued due to the extreme corneal thinning, presence of keratoconus and keratoglobus, and ocular fragility seen in these patients. Even CXL carries extreme risk as corneal perforation has occurred post-CXL in patients with BCS [36]. Those with normal corneal tomography and a CCT > 500 µm (typically classical-like, cardiac-valvular, arthrochalasia, spondylodysplastic, musculocontractural, myopathic, and periodontal) may receive refractive surgery of their choice.…”

Section: Specific Recommendationsmentioning

confidence: 99%

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

Moshirfar

Barke

Huynh

et al. 2021

JCM

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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.

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“…As a result, corneal cross-linking using a modified method in order to account for the thin cornea has been tried as a treatment in pediatric patients [11]. It is worth mentioning that corneal perforations after corneal cross-linking for keratoconus in a woman harboring potentially pathogenic variants in the ZNF469 gene have been recently reported [12]. Additionally, in a case of a monocular patient due to previous rupture and severe corneal ectasia in the seeing eye may have an onlay corneoscleral graft [13].…”

Section: Case Reports In Ophthalmological Medicinementioning

confidence: 99%

Case Series of Brittle Cornea Syndrome

Eleiwa

Raheem

Patel

et al. 2020

Case Reports in Ophthalmological Medicine

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Purpose. This case series demonstrate diagnostic features, treatment options, and challenges for Brittle Cornea Syndrome. Observations. Three cases presented with bluish sclera and extremely thin cornea. Genetic workup was performed and confirmed the diagnosis of Brittle Cornea Syndrome, a rare autosomal recessive disorder characterized by corneal thinning and blue sclera. Case 1 was a 4-year-old boy who developed cataract and glaucoma after undergoing right tectonic penetrating keratoplasty (PK) secondary to a spontaneous corneal rupture. Glaucoma was controlled medically. Later, the kid underwent right transcorneal lensectomy and vitrectomy with synechiolysis. After 6 weeks, he sustained graft dehiscence that was repaired using onlay patch graft. Case 2 was a 7-year-old boy who underwent PK in the right eye, then a pericardial patch graft in the left eye following spontaneous corneal rupture. Glaucoma in both eyes was controlled medically. Case 3 was the 2-year-old sister of the 2nd case. She had a pachymetry of 238 μm OD and 254 μm OS. In the 3 cases, parents were instructed to take protective measures for both eyes and to continue with follow-up visits. Also, they were instructed to have regular screenings for late-onset hearing loss, dental abnormalities, and bone deformities. Conclusions. Long-term follow-up of children diagnosed with Brittle Cornea Syndrome is paramount to minimize the morbidity of corneal rupture and late-onset extraocular conditions.

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Corneal Perforation After Corneal Cross-Linking in Keratoconus Associated With Potentially Pathogenic ZNF469 Mutations

Cited by 15 publications

References 48 publications

Oxidative and antioxidative stress markers in keratoconus: a systematic review and meta‐analysis

Oxidative and antioxidative stress markers in keratoconus: a systematic review and meta‐analysis

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

Case Series of Brittle Cornea Syndrome

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