What question did this study set out to answer?

The study aims to assess the prevalence of keratoconus and other eye issues in individuals with congenital ichthyosis.

April 6, 2026British Journal of Dermatology0 citations

Ophthalmological Abnormalities in syndromic or non-syndromic Epidermal Differentiation Disorders: a cross-sectional study

PFPierre FourniéUniversité Toulouse III - Paul Sabatier BBB. BonneauUniversité Fédérale de Toulouse Midi-Pyrénées HTHélène TexierUniversité Toulouse III - Paul Sabatier

Key Points

The study aims to assess the prevalence of keratoconus and other eye issues in individuals with congenital ichthyosis.
Conducted a cross-sectional comparative case-control design.
Included 72 patients with congenital ichthyosis and 72 sex-matched controls.
Evaluated the incidence of various ophthalmological conditions.
Keratoconus rates were similar between ichthyosis patients and controls.
Significantly higher rates of corneal anomalies, dry eye, and eyelid abnormalities were found in ichthyosis patients.
Patients with ichthyosis reported lower visual acuity and reduced vision-related quality of life.

Abstract

This comparative case-control study aimed to evaluate the incidence of keratoconus and other ophthalmologic abnormalities in patients with congenital ichthyosis compared to controls. Seventy-two patients with ichthyosis and 72 sex-matched controls were included. Keratoconus rates were similar between groups, but other ocular complications, including corneal anomalies, dry eye, eyelid abnormalities, ocular symptoms, low visual acuity, and reduced vision-related quality of life, were significantly more frequent in congenital ichthyosis.

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