New familial association between ocular coloboma and loose anagen syndrome

In 1995, Murphy, McGinnity, and Allen reported a new familial association between ocular coloboma and loose anagen syndrome in two siblings with unaffected parents and no family history of these conditions. The first case involved a 5-year-old girl with a right iris and choroidal coloboma, slow-growing hair, and histological features of loose anagen syndrome. The second case was an 18-month-old boy with bilateral iris and choroidal colobomata, similar hair characteristics to his sister, and severe visual impairment leading to registration as blind. Both children's hair was not easily pluckable, a feature atypical of loose anagen syndrome, and chromosomal studies were normal. The authors suggested that if the condition is inherited, it is likely autosomal recessive, but the rarity of the association and the small family size made further conclusions difficult. This was the first report of a hereditary disorder associating these two conditions, suggesting a new familial association between ocular coloboma and loose anagen syndrome.