Bilateral corneal anesthesia associated with diaphragmatic paralysis, ovarian failure, and developmental delay

To describe two siblings with bilateral corneal anesthesia associated with multiple systemic abnormalities.

Interventional case report.

A 38-year-old Hispanic woman was seen for bilateral corneal ulcers, exposure keratitis, hemorrhagic retinopathy, and multiple systemic abnormalities. A younger sibling with similar but milder findings was also examined. Medical and genetic evaluation was investigated in these two siblings with bilateral decreased sensation and multiple abnormalities from a consanguineous union.

Examination of the patient showed bilateral corneal anesthesia, and multiple systemic abnormalities included diaphragmatic paralysis, ovarian failure, multiple thrombotic cerebrovascular accidents, pedal edema, mandibular hypoplasia, and developmental delay. Milder findings were seen in a sibling. Corneal ulcers were stabilized after treatment that included bandage contact lens, pressure patching, topical antibiotics, and tarsorrhaphy.

The combination of corneal anesthesia and systemic abnormalities, with parental consanguinity, suggests an inherited syndrome.