An interventional study of ophthalmological examination in Ichthyosis, sponsored by University Hospital, Toulouse. Completed at 1 site in France. Open to participants aged 6 Years and older. Per ClinicalTrials.gov, last updated 2025-12-31.
Sponsored by University Hospital, Toulouse · Not applicable, Interventional, and Diagnostic
Presence/absence of subclinical keratoconus with corneal topographic abnormalities (skewed radial axes for forme fruste keratoconus, and inferior steepening for keratoconus suspect) on axial specular topography (TMS-4 Tomey), and elevation topographies: Pentacam (Oculus) and Orbscan (Bausch \& Lomb).
Background: Hereditary ichthyosis are rare genetic diseases characterized by an abnormal epithelial keratinization due to mutations in gene involved in skin barrier. Patients present with scales on the whole body. Recent classification basically distinguishes syndromic from non-syndromic forms. Ichthyoses are severe diseases with significant impact on quality of life, due to troublesome symptoms (pruritus, pain), lack of effective therapy and complications such as ophthalmological anomalies. Among ophthalmological abnormalities, some are well known, such as eyelid abnormalities, including ectropion, and sicca syndrome. Conversely, corneal abnormalities such as keratoconus are not or very partially described in ichthyosis. The keratoconus is characterized by a corneal thickening and bulging with progressive loss of vision that may require a corneal transplantation. Its prevalence is 0.05% in its symptomatic presentation but may reach 10% when considering subclinical keratoconus diagnosed on basis of corneal topographies. These forme fruste keratoconus or keratoconus suspect may remain subclinical or instead progress to severe keratoconus. Corneal collagen crosslinking has been shown to strengthen the cornea in order to halt progressive keratoconus, justifying the need for early screening. Keratoconus is a complex condition of multifactorial etiology. With regards to the pathophysiology of the keratoconus, some hypotheses incriminate the corneal epithelial differentiation that is similar to the epidermal differentiation altered in ichthyosis. This link between both dermatological and ophthalmological abnormalities is supported by clinical experience. It's was observed that ichthyosis patients have frequently a subclinical keratoconus. In clinical practice, ophthalmological abnormalities are not commonly investigated in ichthyosis patients and there are no data on prevalence in the literature. Furthermore, there are no guidelines on screening or therapy of ophthalmological abnormities in ichthyosis.
The purpose of this project is to demonstrate that the prevalence of subclinical keratoconus (including forme fruste keratoconus and keratoconus suspect) is higher in ichthyosis compared to healthy controls.
Descriptive analysis of the studied population for primary outcome: The proportion of patients with subclinical keratoconus (including form fruste keratoconus and keratoconus suspect) will be described in each study-group and compared between study-groups using Mac Nemar Test.
For ichthyosis population:
For controls:
Exclusion Criteria:
For both populations:
patients presenting an Hereditary ichthyosis, whatever form or ongoing therapy will have an ophthalmological examination.
Diagnostic Test: ophthalmological examination
patient without ichthyosis disease and consulting an ophthalmologist for refractive surgery screening or systematic eye examination will have an ophthalmological examination
Diagnostic Test: ophthalmological examination
* Refraction * Best corrected visual acuity * Intraocular pressure * Slit lamp examination with vital dye (Oxford grading) * Tear break-up time (TBUT) * Schirmer I testing * Specular (TMS-4 Tomey) and elevation (pentacam Oculus and Orbscan Bausch \& Lomb) corneal videotopographies * Pachymetry * Questionnaires: Ocular surface disease index, quality of vision (visual analogic scale), and quality of life (NEI-VFQ25) * questionnaire about ichthyosis severity * questionnaire about life quality specifically for patient presenting ichthyosis
Presence/absence of subclinical keratoconus
Presence/absence of subclinical keratoconus with corneal topographic abnormalities (skewed radial axes for forme fruste keratoconus, and inferior steepening for keratoconus suspect) on axial specular topography (TMS-4 Tomey), and elevation topographies: Pentacam (Oculus) and Orbscan (Bausch \& Lomb).
Time frame: 10 mn
Presence/absence of symptomatic keratoconus with irregular topographic maps
Evaluation by corneal videotopographies
Time frame: 10 mn
Presence/absence of an abnormality of corneal transparency
Evaluated by the measurement of the refraction,
Time frame: 10 mn
Presence/absence of sicca syndrome
Examination with the slit lamp of eyelids and eyelashes
Time frame: 10 mn
Evaluation of quality of vision
-Ocular Surface Disease Index (OSDI) : Self administered form to evaluate the impact of dry eye on visual function : 12 questions rated from 0 (never) to 4 (all the time)
Time frame: 10 mn
Quality of life for adults
-Quality of life by the National Eye Institute Visual Function Questionnaire (NEI-VFQ) : Self-administered questionnaire witch incorporates a wider range of data in relation to quality of life related to vision. Each question leads to an answer that is either dichotomous (yes / no), or graduated in 3, 4.5 and 6 points. The score of each item is transformed from 0 to 100, and the average of the scores by domain is established.
Time frame: 10 mn
Plan to share: Undecided
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University Hospital, Toulouse