A 2 base pair deletion in the RDS gene associated with butterfly-shaped pigment dystrophy of the fovea.

Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EM.

Butterfly-shaped pigment dystrophy of the fovea is an autosomal dominant eye disease characterized by an accumulation of abnormal yellowish pigment at the level of the retinal pigment epithelium (RPE) of the macula. This material often accumulates in an unusual configuration consisting of multiple lobes which can resemble the wings of a butterfly. This abnormal deposition can result in atrophy of the overlying RPE with subsequent loss of function of the macular photoreceptors. This can lead to a dramatic loss of central vision in affected patients. First described in 1970, this disease belongs to the group of disorders that are known collectively as pattern dystrophy. These diseases share important clinical features with agerelated
macular degeneration (AMD), the most common cause of legal blindness in the elderly.

Human Molecular Genetics
Additional Information: 
1993 Aug;2(8):1347.
Publication Date: 
Aug 1 1993
Pubmed ID: