Abstract
Abstract: :
Purpose:To report a mandatory carrier of autosomal dominant RP affected with the enhanced S-cone syndrome (ESCS). Methods: Four generations of one family were studied clinically and electrophysiologically over a period of 20 years. Results:A 60 year old female has nyctalopia and an electroretinogram picture of the enhanced S-cone syndrome (large, late a- and b-waves to short wave stimuli with an action spectrum of S-cones that do not change with light adaptation, reduced L&M cones and absent rods). She has 20/20 acuity, normal color vision, full visual fields and normal fundi. She has remained stationary for 20 years. She has a parent with suspected retinitis pigmentosa (RP). She has a son and sister with RP both of whom have shown documented progression of retinal degeneration over the past 20 years and are currently legally blind. The son has a son and daughter with RP. There is no other clinical sign of Goldman-Favre syndrome in this patient. Conclusion:A patient with ESCS who has remained stationary for 20 years is a mandatory carrier of autosomal dominant RP, suggesting that ESCS may be a forme fruste of ADRP. This family is being genotyped for the gene NR2E3, considered responsible for ESCS.
Keywords: 393 electrophysiology: clinical • 385 degenerations/dystrophies • 418 gene mapping