Spontaneous corneal perforation in a patient with lamellar ichthyosis and dry eye

Abstract

We report spontaneous corneal perforation in a patient with lamellar ichthyosis. The patient presented with complaints of pain, redness, diminished vision, and discharge in her right eye for 15 days. Visual acuities were light perception in the right and 20/400 in the left eye. Cicatricial ectropion in both lower eyelids and 2 mm perforation site in the center of the right cornea were observed. Lamellar ichthyosis was suspected because of scaling and excessive dryness of entire body skin and was confirmed by skin biopsy. Amniotic membrane transplantation and transient tarsorraphy was performed and systemic anti-ichthyosis therapy was started. The follow-up visits were not possible because of patient inconsistency. In patients with cicatricial ectropion secondary to ichthyosis, corneal health should be closely monitored because of the perforation risk.

Ocular manifestation of Ichthyosis

“…In these patients, extensive ocular surface lubrication was mandatory as they had severe dryness, tear deficiency and stem cell deficiency. A possible treatment option was immunosuppressive agents such as cyclosporine to control chronic inflammation 1, 4, 8. However, none of the cases in the current study required systemic immunosuppressives and were managed with topical lubrication and/or topical antibiotics to control concomitant ocular infections.…”

“…Ichthyosis is an inherited group of skin disorders characterized by the skin thickening and scale formation. Some of these disorders include, ichthyosis vulgaris and epidermolytic hyperkeratosis (EHK) which are autosomal dominant and lamellar type which is autosomal recessive and X-linked ichthyosis 1 . Harlequin ichthyosis is an inherited autosomal recessive disorder with mutations in the abca12 gene.…”

Management of congenital ichthyoses: European guidelines of care, part two

“…The primary aim of ophthalmic management is to maintain normal visual development and protect the ocular surface integrity while minimizing the risk of corneal epithelial defects …”

Spontaneous subconjunctival abscess in congenital lamellar ichthyosis

“…The most common ocular manifestations previously described with congenital lamellar ichthyosis include eyelid abnormalities, bilateral ectropion of the lower eyelids being the most common. [ 8 ] The other findings include exposure keratitis secondary to ectropion,[ 9 ] megalocornea, absence of the meibomian gland, lacrimal puncta, trichiasis, and madarosis. Deep stromal corneal opacities are more commonly seen with the X-linked recessive form.…”