Congenital posterior pole cataract and adult onset dilating cardiomyopathy: expanding the phenotype of αB-crystallinopathies.

Mutations in the αB-crystallin gene (CRYAB) have been reported in desmin-related myopathies, with or without cardiac involvement. Mutations in this gene have also been documented in large multi-generation families with autosomal dominant congenital posterior pole cataract (CPPC). In these congenital cataract families no cardiac or muscular phenotype was reported. This report describes a family with an unusual read-through mutation in CRYAB, leading to the elongation of the normal αB-crystallin protein with 19 amino acid residues. Affected family members combine a CPPC with an adult onset dilated cardiomyopathy (DCM), thereby expanding the αB-crystallinopathy phenotype. Repolarisation abnormalities preceded the onset of cardiomyopathy and were already present in childhood. No skeletal myopathy was observed. This report illustrates that congenital cataract can be a prelude to more severe disease even outside the context of inborn errors of metabolism. The identification of a CRYAB mutation in this family supports the notion that mutations in this gene are a rare cause of genetically determined DCM. The combined congenital cataract/cardiomyopathy phenotype adds to our understanding of the complex phenotypic spectrum of αB-crystallinopathies.

Long-term ocular complications in aphakic versus pseudophakic eyes of children with juvenile idiopathic arthritis-associated uveitis.

AIM: To evaluate the long-term follow-up of aphakic and pseudophakic eyes of children with juvenile idiopathic arthritis (JIA)-associated uveitis with a special interest in whether intraocular lens implantation increases the risk of developing ocular complications. METHODS: Data were obtained from the medical records of 29 children (48 eyes) with JIA-associated uveitis operated on for cataract before the age of 16 years from January 1990 up to and including March 2007. Main outcome measures were long-term postsurgical complications and visual acuity in aphakic and pseudophakic eyes of children with JIA-associated uveitis. RESULTS: The number of complications after cataract extraction including new onset of ocular hypertension and secondary glaucoma, cystoid macular oedema and optic disc swelling did not differ between aphakic and pseudophakic eyes. Moreover, no hypotony, perilenticular membranes and phthisis were encountered in the pseudophakic group. Better visual acuity was observed in the pseudophakic eyes up to and including 7 years of follow-up (p=0.012 at 7 years of follow-up). No differences in the preoperative or adjuvant perioperative treatment with periocular or systemic corticosteroids were found between the two groups; however, significantly more children were treated with methotrexate in the pseudophakic group (p=0.006). CONCLUSION: With maximum control of perioperative inflammation and intensive follow-up, the implantation of an intraocular lens in well-selected eyes of children with JIA-associated uveitis is not associated with an increased risk of ocular hypertension, secondary glaucoma, cystoid macular oedema and optic disc swelling and showed better visual results up to and including 7 years after cataract extraction.