Ophthalmologic manifestations of adult patients with cystic fibrosis

Abstract

Introduction: Cystic fibrosis (CF) is the most common life-shortening recessive genetic disease in Caucasians, affecting primarily the lungs. The objective of our study was to investigate potential ophthalmologic involvement in adult patients with CF. Methods: Fifty adult patients with cystic fibrosis and 60 age- and sex-matched controls underwent complete ophthalmologic examination including tear-film Break-Up Time (BUT), Macular Thickness, and peripapillary Retinal Nerve Fiber Layer (pRNFL) thickness measurements using Spectral Domain-OCT. Results: CF patients had significantly lower nasal-inferior pRNFL thickness (median 82 IQR 67–102 vs 92.5 IQR 82–107, p = 0.005) and lower percentage of normal tear Break-Up Time (56.0% vs 96.7%, p = 0.001) than healthy controls. All CF patients with BUT <10 s were diagnosed with blepharitis at the time of our assessement. The subgroup of patients homozygous for the most common CF mutation, F508del, had lower nasal-inferior pRNFL thickness ( p = 0.014) and lower percentage of normal tear Break-Up Time ( p = 0.001) compared to the control group. Additional findings, present in the CF group only, were punctuate retinal hemorrhages (four patients), vessel tortuosity (four patients), snail-track degeneration, and retinal tufts (two patients without refractive error). There were no significant differences in visual acuity, refractive errors, gonioscopic findings, or intraocular pressure between the groups. Conclusions: Our study is, to the best of our knowledge, the largest ophthalmologic study of patients with cystic fibrosis. We found that CF patients had significantly decreased inferior-quadrant peripapillary retinal nerve fiber layer thickness and decreased tear-film break-up time compared to controls. We highlight the importance of careful regular ophthalmologic assessment and follow-up of these patients.

Corneal Refractive Surgery Considerations in Patients with Cystic Fibrosis and Cystic Fibrosis Transmembrane Conductance Regulator-Related Disorders

“…CFTR expression and activity have been observed in lacrimal and meibomian glands, and other secretory epithelial cells in the eye. 15 , 20 , 27 , 28 The hyperviscous mucus secretions associated with dysfunctional CFTR proteins may obstruct these glands and cells, leading to lacrimal acinar cell degeneration, meibomian gland dysfunction (MGD), and decreased glandular secretions. Reducing lipid, aqueous, and mucosal glandular secretions destabilizes the tear-film, decreases ocular surface nutrient delivery, and decreases ocular surface lubrication, respectively.…”

“…that obstructive sleep apnea (OSA), a condition for which patients with CF may be predisposed, is significantly correlated with peripapillary retinal nerve fiber layer thinning, increased risk of acute retinal vein occlusion, decreased endothelial cell density, and decreased central corneal thickness due to hypoxia. [19][20][21] Corneal damage may be prevented by ensuring that patients with moderate to severe CF/CFTR-RD are screened for OSA and receive adequate treatment. As CF patients are predisposed to developing OSA, screening them for floppy eyelid syndrome (FES) and keratoconus (KCN) may be indicated as these conditions have been significantly correlated with OSA.…”

“…15 These obstructions may also trigger a pro-inflammatory response, leading to decreased corneal epithelial cell integrity, conjunctival goblet cell loss, and blepharitis. 15,20,28 These alterations can cause ocular surface disorders (OSDs), such as concurrent aqueous-deficient DED and evaporative DED, also known as mixed etiology DED, and superficial punctate keratitis, which was found in patient #1. 15,20,29 Additionally, patient #1 was noted to have FK before and after PRK surgery.…”

“…15,20,28 These alterations can cause ocular surface disorders (OSDs), such as concurrent aqueous-deficient DED and evaporative DED, also known as mixed etiology DED, and superficial punctate keratitis, which was found in patient #1. 15,20,29 Additionally, patient #1 was noted to have FK before and after PRK surgery. It has been proposed that an increased tear film mucus-to-aqueous ratio precedes FK.…”

“…[50][51][52][53][54][55][56] AMEED and Regener-Eyes ® are not currently FDA approved but have promising therapeutic potential as they leverage their anti-inflammatory, anti-angiogenic, and nonimmunogenic properties to promote limbal stem cell proliferation, facilitate corneal epithelial healing, and treat DED. [54][55][56] Note: Data from these studies 15,19,20,23,30,[36][37][38][39]41,42,47,61,62…”