Idiopathic limbal stem cell deficiency

Abstract

Purpose: To describe and to characterize the clinical findings and prognosis of patients with idiopathic limbal stem cell deficiency (LSCD).

Design: Retrospective case series.

Participants/methods: We reviewed records from seven patients whose LSCD had been diagnosed clinically and confirmed by impression cytology and in whom the cause of LSCD was never identified. A detailed history, clinical records, and results of slit-lamp biomicroscopy, photography, vital staining, and impression cytology were evaluated.

Results: Six of seven patients (86%) were women, indicating a female predominance. Two patients were from the same family, whereas one other had a positive family history. Severe photophobia was noted in all patients and reduced vision in three patients. The main clinical findings included superficial vascularization, worse in the superior followed by the inferior and nasal cornea. The limbal regions showed a loss of limbal palisades of Vogt, and the adjacent peripheral cornea revealed an irregular and hazy epithelium with positive late fluorescein staining and the presence of conjunctival goblet cells by impression cytology. LSCD was bilateral in all patients but asymmetric in four. During a mean follow-up of 6.1+/- 3.8 years, the visual acuity decreased in both eyes of one patient after cataract extraction and in both eyes of two other patients without surgery. The process of conjunctivalization advanced in four patients (57%) and remained stable in three (43%) without surgical intervention.

Conclusions: Idiopathic LSCD is a rare and as yet poorly recognized clinical entity, and the findings reported herein may help explore how progressive loss of limbal stem cells occurs. Correct diagnosis of idiopathic LSCD is important so that the patient will not be subjected to unnecessary surgeries, which may actually severely worsen the clinical course.