Congenital Insensitivity to Pain : A Case Report With Cornea
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To report the findings of a comprehensive eye examination from an individual with congenital insensitivity to pain because of loss-of-function mutations in the SCN9A gene.
Ophthalmologic examination and confocal microscopy were performed on a patient with congenital insensitivity to pain.

A 39-year-old man with compound heterozygous mutations in the SCN9A gene underwent examination. Cochet–Bonnet esthesiometry readings averaged 38 mm (SD 8 mm) in the right eye and 55 mm (SD 7 mm) in the left eye. Other corneal findings included mild conjunctival lissamine green staining, nonvisually significant corneal scars, mild anterior basement membrane dystrophy, and a tear breakup time of 3 seconds in each eye. In vivo confocal microscopy of the corneal subbasal nerve plexus revealed relatively normal corneal nerve morphology, but a reduction in corneal nerve fiber density.

An individual with loss-of-function mutations in SCN9A had reduced corneal nerve fiber density but normal corneal mechanoreception.

Read more : https://journals.lww.com/corneajrnl/Abstract/9000/Congenital_Insensitivity_to_Pain__A_Case_Report.95838.aspx
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