We discovered that mutations in the peripherin gene on chromosome 6 cause a type of macular disease known as pattern dystrophy. This finding was particularly surprising since mutations elsewhere in the same gene can cause a completely different disease -- retinitis pigmentosa. Various aspects of this work have been published in Nature Genetics, Human Molecular Genetics, and Archives of Ophthalmology, some of the leading scientific journals in this field.
Fundus photograph from a patient with butterfly-shaped pigment dystrophy of the fovea. This pattern dystrophy is characterized by a collection of pigment in the macula that can resemble the wings of a butterfly.
The Nature Genetics butterfly dystrophy paper was one of 2 simultaneous reports in which a specific molecular defect was identified in a macular disorder similar to macular degeneration. We are hopeful that this and similar findings in the future will shed enough light on the mechanism of common age-related macular degeneration that a successful medical treatment can be devised.
