View abstract

This abstract is assigned to sessions

Presentation type	Oral presentation
Title	From Legs to the Eye: A Potential Corneal Manifestation of X-linked Ichthyosis

Purpose	To report a case of pre-Descemet corneal dystrophy due to an STS gene deletion, presenting with atypical, progressive visual decline, this in contrast to the stable, well- preserved vision described in previous case reports.
Methods	A male patient presented with slowly progressive, bilateral visual decline. He was referred for suspected Fuchs endothelial dystrophy. Anterior segment OCT, in vivo confocal microscopy and a corneal dystrophy gene panel were performed.
Results	Slitlamp examination demonstrated a bilateral, deep punctiform stromal opacification with a honeycomb structured subepithelial haze. OCT showed hyperreflective posterior stromal material and confocal microscopy revealed granular deposits throughout all stromal layers. The endothelial cell layer was normal in both eyes. A corneal dystrophy panel was negative, but a recurrent deletion at Xp22.31 involving the STS gene was identified. After this finding, the patient reported he has had ichthyosis of the lower legs since childhood, with no identifiable underlying cause. Unlike prior reports of stable, well-preserved vision in patients with a deletion in the STS gene, our patient showed mild progressive decline over two years (BCVA 9/10 & 8/10 to 6/10 &7/10 in the right and left eye respectively), driven by increasing stromal deposition and centripetal band keratopathy.
Conclusion	This case confirms STS deletion as a recurrent cause of pre-Descemet corneal dystrophy and shows that, contrary to prior reports, it can progress to visually significant disease. It underscores the importance of combining multimodal imaging with genetic analysis in characterizing unexplained posterior stromal opacities and in unraveling an underlying systemic genodermatosis.
Conflict of interest	No

Authors 1

Last name	ZEYEN
Initials	A
Department	Ophthalmology
City	Leuven

Authors 2

Last name	SAELENS
Initials	I
Department	Ophthalmology
City	Leuven

Authors 3

Last name	Delbeke
Initials	H
Department	Ophthalmology
City	Leuven