Ocular Changes in Cystic Fibrosis: A Review

Area of Science:

• Ophthalmology
• Genetics
• Pulmonology

Background:

• Cystic fibrosis (CF) is a common autosomal recessive genetic disorder.
• It stems from mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
• CF leads to impaired lung and pancreas function due to thick mucus.
• Ocular abnormalities are recognized manifestations of CF.

Purpose of the Study:

• To review current knowledge on ocular changes in cystic fibrosis.
• To summarize anterior and posterior segment abnormalities associated with CF.

Main Methods:

• Literature review of studies on cystic fibrosis and ocular manifestations.
• Synthesis of findings on genetic basis, pathophysiology, and clinical observations.

Main Results:

• Anterior segment: Conjunctival and corneal xerosis, dry eye disease.
• Posterior segment: Retinal nerve fiber layer defects, vascular abnormalities, reduced contrast sensitivity, and abnormal dark adaptation.
• The full spectrum of ophthalmic manifestations requires further investigation.

Conclusions:

• Ocular abnormalities are a significant feature of cystic fibrosis.
• Understanding these manifestations is crucial for comprehensive CF patient care.
• Further research is needed to fully elucidate the relationship between CF and eye health.