Identification of the novel SDR42E1 gene that affects steroid biosynthesis associated with the oculocutaneous genital syndrome.

Hereditary connective tissue diseases form a heterogeneous group of disorders that affect collagen and extracellular matrix components. The cornea and the skin are among the major forms of connective tissues, and syndromes affecting both organs are often due to mutations in single genes. Brittle cornea syndrome is one of the pathologies that illustrates this association well.

Clinical and therapeutic features of pediatric Vogt-Koyanagi-Harada disease.

Purpose: To analyze clinical, therapeutic and prognostic features of pediatric Vogt-Koyanagi-Harada (VKH) disease.

Material And Methods: This retrospective study included 16 eyes of 8 children diagnosed with VKH disease followed at a teaching hospital over a 10 year period. Diagnosis was based on the revised criteria of VKH disease.