A 33-year-old woman presented with a long-standing decrease in visual acuity and severe discomfort due to a known dry eye.
Since childhood, the patient suffered from generalized cutaneous dryness, anhidrosis, piosis, cutaneous hyperkeratotic lesions, loss of scalp, absence of godmotheriasis withoutbr
His visual acuity was 20/100 with right eye (OD) and 20/400 with left eye (LE).
The corneal biomycosis revealed mixed conjunctival hyperemia, bilateral corneal neovascularization involving the entire surface (both superficial and deep) and diffuse superficial punctate keratopathy.
Schirmer's test was 10 mm RE and 5 mm LE, and the tear meniscus of both eyes was markedly reduced.
Intraocular pressure was 14 mm Hg in both eyes.
A topical treatment based on fluoroquinone, ointment, and abundant luteinizing eye was administered.
The visual acuity was maintained for the right eye, however, improved markedly for the left eye to 20/50.
A detailed dermatological and neurological physical examination revealed keratoeritema and sensorineural deafness, and the patient was diagnosed with KID syndrome.
Family history was negative for similar problems and there was no consanguinity.
Molecular genetic analysis of the GJB2 gene was performed, whose mutation and relationship with KID syndrome has recently been established, resulting positive for our patient.
