Posters

Ophthalmological manifestations in Cornelia de Lange syndrome: case report

Poster Details

First Author: B.Garcia-Valcarcel Gonzalez SPAIN

Co Author(s):    L. Ibares Frias   G. Franco Iglesias   J. Casco              

Abstract Details

Purpose:

Our main purpose is to remember the typical ophthalmological manifestations that occur in Cornelia de Lange Syndrome

Setting:

Madrid-Spain

Methods:

We present a pediatric case of Cornelia de Lange Syndrome that presents chronic inflammation of the ocular surface in probable relation with blepharitis and atopy and also malfunction of the eyelid dynamics in addition to the characteristic phenotypic manifestations in relation to this syndrome

Results:

Female eight year old patient referred for pediatrics for ophthalmological assessment due to diagnosis of Cornelia de Lange Syndrome. Ophthalmological exam: MAVC (Teller): OD 20/94; 6.4cpd // OI 20/380. Intermittent exotropia of -10º left eye. Nystagmic movements of left eye. Refraction: OD -12 -4 at 20º; OI -12 -4 to 180º Patient presents compatible facial features: wide and joined eyebrows, long eyelashes. In the biomicroscopy of the anterior segment, in the right eye it presents mild-moderate lower corneal pannus that does not affect the visual axis and in the left eye, inferior and central subepithelial fibrosis with marked vascularization that compromises the visual axis. Both eyes have marked blepharitis as well as a decreased flickering frequency and in the left eye lagoftalmos. Treatment with 0.02% ophthalmologic ointment tacrolimus combined with 0.1% cyclosporine eye drops, as well as eyelid cleaning and moisturizing treatment (moisturizing ointment + night occlusion) is prescribed. Refer to dermatology for assessment diagnosing atopic dermatitis and periorificial rosacea. In spite of the intense treatment, the patient requires frequently cycles of corticosteroid treatment, so that temporary left eye tarsorrhaphy is performed, subsequently observing a marked improvement in the state of the ocular surface (decrease in vascularization and corneal fibrosis)

Conclusions:

Cornelius de Lange syndrome is a rare genetic disease The diagnostic is fundamentally clinical, based on the recognition of characteristic facial phenotypic features, together with limb malformations; This may be accompanied by growth failure, and intellectual disability of varying degrees. Distinctive facial findings include: well-populated, curved and close eyebrows (sinofris), long eyelashes, micrognathia, low hair and ear implantation, hypertrichosis, low nasal bridge, long filter, and shaped mouth of carp with thin lips and maxillary prognathism. In our case, there is probably a chronic inflammatory environment of the ocular surface probably caused by different factors: blepharitis, atopic keratoconjunctivitis and exposure keratitis

Financial Disclosure:

None