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Corneal thinning and extreme fragility are characteristic of BCS2. Ruptures of the cornea may occur with minimal trauma and repair is often unsatisfactory due to the lack of healthy tissue. Keratoconus, acute hydrops, keratoglobus, and high myopia are frequently present as well. Some patients have sclerocornea that obscures the normal limbal landmarks. The sclera is also thin and the underlying uveal tissue imparts a bluish discoloration to the globe which is especially evident in the area overlying the ciliary body creating what some call a blue halo.
Skin laxity with easy bruisability, pectus excavatum, scoliosis, congenital hip dislocation, a high arched palate, mitral valve prolapse and recurrent shoulder dislocations are often present. Hearing impairment with mixed sensorineural/conductive defects is common.
This autosomal recessive disorder results from homozygous mutations in PRDM5 (4q27). Heterozygous carriers may have blue sclerae, small joint hypermobility, and mild thinning of the central cornea.
Treatment for specific defects such as joint dislocations and mitral valve malfunction may be helpful.