A 33-year-old woman consulted for a long-standing decrease in visual acuity and severe discomfort due to known dry eyes. Since childhood the patient had suffered from generalised dry skin, anhidrosis, cutaneous piosis, hyperkeratotic skin lesions, loss of scalp, absence of eyebrows and madarosis without alterations in palpebral position. His visual acuity was 20/100 with the right eye (OD) and 20/400 with the left eye (OI). Biomicroscopy revealed mixed conjunctival hyperemia, bilateral corneal neovascularisation involving the entire corneal surface (both superficial and deep) and diffuse superficial punctate keratopathy. Schirmer's test was 10 mm OD and 5 mm OI, with markedly reduced tear meniscus in both eyes. Intraocular pressure was 14 mm Hg in both eyes. Topical treatment with fluorometholone, erythromycin ointment and abundant ocular lubrication was administered. Visual acuity was maintained in the right eye, but improved markedly in the left eye to 20/50.
A detailed dermatological and neurological physical examination revealed keratoerythema and sensorineural deafness, and the patient was diagnosed with KID syndrome. The family history was negative for similar problems and there was no consanguinity. Molecular genetic analysis of the GJB2 gene, whose mutation and relationship with KID syndrome has recently been established, was performed and was positive for our patient.