Scoliosis, Arachnodactyly, And Blindness

Watchlist

(log in to enable)

Retrieved

2019-09-22

Source

Omim

Trials

—

Genes

—

Drugs

Adeno-associated virus serotype 8 containing the human RdCVF sequence and the human RdCVFL sequence, Combination of three adeno-associated viral vectors of serotype 8 containing the 5'-, the body- and the 3'- coding sequences of human CEP290 fused to inteins

Interested in hearing about new therapies?

Clinical Features

Dundar et al. (2008) reported a Turkish family in which a father and 2 sons had scoliosis, arachnodactyly, and progressive loss of vision resulting in blindness. The proband was a 16-year-old boy with scoliosis, arachnodactyly of both fingers and toes, and progressive visual loss and strabismus since he was 8. The right eye showed esotropia, bilateral lens subluxation, hypertrophy of the retinal pigment epithelium, and eventual total retinal detachment. A 20-year-old brother had severe kyphoscoliosis, arachnodactyly of fingers and toes, and complete blindness associated with opaque small lenses. The 60-year-old father had mild scoliosis, blindness, and arachnodactyly. A 23-year-old sister of the proband had blindness associated with small opaque lenses, but no scoliosis or arachnodactyly. The combination of clinical abnormalities in these patients did not suggest Marfan syndrome (MFS; 154700) or other connective tissue disorders associated with ectopia lentis, and genetic analysis excluded mutations in the FBN1 (134797), TGFBR1 (190181), and TGFBR2 (190182) genes. Dundar et al. (2008) suggested that the disorder in this family represented an autosomal dominant gene defect with possible sex influence.