Corneal Myofibromatous and Pterygium-Like Changes in a Family With a PDGFRB Variant.

PURPOSE: To report the clinical, pathologic, and genetic findings in a family with early-onset pterygia, corneal vascularization, and corneal myofibromatous lesions.

METHODS

We performed clinical, pathologic, and genetic analysis of 12 members of a family originating in Puebla Mexico, who manifested with pterygia/pseudopterygia and corneal opacification transmitted in an autosomal-dominant inheritance pattern. Three unaffected family members also were evaluated.

RESULTS

Clinical findings included isolated pterygia, isolated corneal subepithelial and anterior stromal opacities associated with varying degree of corneal vascularization, and a combination of pterygia and corneal opacities. Nine patients (17 eyes) underwent surgical procedures, including penetrating keratoplasty (9/17), superficial keratectomy (7/17), and pterygium excision (7/17). Five patients (eight eyes) had more than one surgery for recurrence of pterygia (2/8), recurrent corneal opacities obscuring the visual axis (3/8), penetrating keratoplasty failure (1/8), and indication not known (2/8). Documented recurrences occurred early, within 1 to 2 years of surgery. Histopathology of 21 specimens available for evaluation (nine penetrating keratoplasty corneas, seven superficial keratectomies, and five conjunctival-corneal tissues from pterygium/pseudopterygium excision) from seven patients showed varying degrees of myofibroblastic proliferation. Exome sequencing identified a heterozygous c.1610C>A (p.Ala537Asp) variant in the platelet-derived growth factor receptor beta ( PDGFRB ) gene in all 11 affected family members tested and in one of three unaffected family members.

CONCLUSIONS

The combined clinical presentation, histopathologic features, and genetic findings suggest an autosomal dominantly inherited predisposition to exuberant corneal myofibroblastic proliferation, driven by the platelet-derived growth factor receptor activation.