Autosomal dominant keratitis

Autosomal dominant keratitis (also known as hereditary keratitis or autosomal dominant keratitis-ichthyosis-deafness-like syndrome when associated features are present) is a rare genetic eye disorder primarily affecting the cornea. In this condition, chronic or recurrent inflammation of the cornea (keratitis) leads to corneal opacification (clouding), vascularization (abnormal blood vessel growth into the cornea), and progressive visual impairment. The disease has been linked to mutations in the PAX6 gene in some families, a gene critical for normal eye development, though genetic heterogeneity exists. Onset typically occurs in childhood, and the keratitis may be accompanied by other anterior segment abnormalities of the eye, including aniridia or foveal hypoplasia in PAX6-related cases. The primary body system affected is the visual system. Key clinical features include bilateral corneal inflammation, corneal scarring, photophobia (light sensitivity), tearing, and reduced visual acuity that may worsen over time. Some patients may also develop cataracts or glaucoma. The severity of the condition can vary considerably even within the same family, reflecting variable expressivity characteristic of autosomal dominant disorders. Treatment is primarily supportive and symptomatic. Management strategies include topical anti-inflammatory medications, lubricating eye drops, and protection from environmental irritants. In cases of severe corneal opacification, corneal transplantation (keratoplasty) may be considered, although outcomes can be complicated by recurrence of the keratitis in the graft. Limbal stem cell transplantation has been explored in cases associated with limbal stem cell deficiency. Regular ophthalmologic monitoring is essential to manage complications and preserve vision as much as possible. Genetic counseling is recommended for affected families.

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