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Ichthyosis is a rare disorder of keratinization with frequent but underrecognized ocular involvement. Eyelid abnormalities and ocular-surface disease may lead to severe corneal complications, especially in congenital forms. Objective: To describe ophthalmological manifestations in patients with ichthyosis and to identify factors associated with corneal complications. Methods: Retrospective observational analytical study of eight patients with clinically confirmed ichthyosis seen in an ophthalmology consultation. Data included demographics, ichthyosis type, eyelid examination, slit-lamp findings, dry-eye assessment, treatments, and outcomes. Results are presented as counts and percentages; associations between eyelid abnormalities and corneal involvement were explored descriptively. Results: Mean age was 12.5 years (range 6 months–32 years); five patients (62.5%) were male. Severe congenital forms represented 62.5% of cases. Eyelid involve- ment occurred in 6/8 patients (75%): lower eyelid ectropion in 5 (62.5%), bilateral in 4 (50%); lagophthalmos in 3 (37.5%); chronic blepharitis in 4 (50%). Dry eye affected all patients (100%): mild–moderate in 5 (62.5%), severe in 3 (37.5%), with severe dry eye consistently associated with ectropion. Ocular-surface disease was present in 5 patients (62.5%): chronic conjunctival hyperemia (50%), superficial punctate keratopathy (50%), exposure keratitis (37.5%), and corneal ulceration (12.5%). Corneal complications were more frequent in patients with lagophthalmos (66.7%) than in those without eyelid abnormalities (20%). Visual acuity decrease due to corneal damage occurred in 2 patients (25%); one child was at risk for amblyopia. Six patients (75%) received medical treatment alone; two (25%) underwent surgical correction of ectropion. Intensive lubrication was prescribed for all. Clinical improvement was observed in 7/8 patients (87.5%). Conclusions: Ophthalmic manifestations in ichthyosis are common and can be severe. Eyelid malposition, especially ectropion and lagophthalmos, is the main risk factor for corneal complications. Early ophthalmic assessment, aggressive ocular-surface management, and timely surgical repair of eyelid malposition are essential to preserve vision, particularly in congenital forms.
Keywords: ichthyosis; ectropion; lagophthalmos; corneal ulceration; dry eye; ocular surface; cornealulceration; dryeye; ocularsurface
Ichthyosisisararekeratinizationdisorder. Ophthalmologicalmanifestations,oftenunderestimated,are mainlyrelatedtoeyelidmalpositionandocular-surface involvementandcanleadtoseriouscornealcomplications, particularlyincongenitalforms. Thisstudy aimedtoanalyzeophthalmologicalmanifestationsin patientswithichthyosisandtoidentifyfactorsassociatedwithcornealcomplications.
Weperformedaretrospectiveobservationalanalytical studyofpatientswithclinicallyconfirmedichthyosis seeninophthalmologyconsultation. Eightpatients were included. Collected data: age, sex, ichthyosis type(congenitalvs. acquired/severity),eyelidstatic anddynamicassessment,slit-lampexamination,dryeyeevaluation,treatments,andoutcomes. Dataare presentedascountsandpercentages;comparativedescriptionassessedassociationsbetweeneyelidabnormalitiesandcornealinvolvement.
Demographics: mean age 12.5 years (6 months–32 years); 5 males (62.5%). Severe congenital forms: 62.5%. EyelidlesionsEyelidinvolvement: 6patients (75%).
• Lowereyelidectropion:5patients(62.5%),bilateralin4(50%).
• Lagophthalmos:3patients(37.5%).
• Chronicblepharitis:4patients(50%).Eyelidabnormalitiesweremorefrequentinseverecongenitalforms(83.3%).
DryeyeAllpatients(100%)haddryeye:mild–moderate in5(62.5%);severein3(37.5%). Severedryeyewas consistentlyassociatedwithectropion.
ConjunctivalandcornealdisordersOcular-surfaceinvolvementin5patients(62.5%): • Chronicconjunctivalhyperemia:50% • Superficialpunctatekeratopathy:50% • Exposurekeratitis:37.5% • Cornealulceration:12.5%Cornealcomplications weremorefrequentwithlagophthalmos(66.7%) thanwithouteyelidabnormalities(20%).
Functional impact and treatment Visual acuity decreased due to corneal damage in 2 patients (25%); onechildatriskofamblyopia.Conservativetreatment alonewasusedin6patients(75%);2patients(25%) underwentsurgicalectropionrepair.Intensivelubricationprescribedforall;clinicalimprovementin87.5%
This series confirms frequent ocular involvement in ichthyosis,dominatedbyeyelidmalpositionanddry eye.Ectropionandlagophthalmosaremajorriskfactorsforexposure-relatedcornealdisease.Severecongenitalformsappearathigherrisk, highlightingthe needforearlyophthalmologicalfollow-upinchildren. Limitationsincludesmallsamplesizeandretrospectivedesign,buttherarityofthediseasegivesclinical valuetothefindings.
Ocularmanifestationsinichthyosisarecommonand potentiallysight-threatening.Earlydetection,aggressiveocular-surfacetherapy,andtimelysurgicalcorrectionofeyelidmalpositionarecrucialtopreventcorneal complicationsandpreservevision.