Publications by authors named "Sarah Perez-Roustit"
Article Synopsis
- EMAP (Extensive Macular Atrophy with Pseudodrusen) is a newly identified form of maculopathy that shares features with Age-related Macular Disease (AMD) but has an earlier onset and a distinct progression, starting with night blindness and leading to severe vision loss.
- EMAP incidence varies regionally, being lower in areas with a Mediterranean diet, while higher rates are found in locations with intense farming or industrial activities; toxic exposure during work is also noted as a significant risk factor.
- The study suggests that EMAP may result from lifelong toxic exposure leading to chronic inflammation and irregularities in complement pathways, causing severe retinal damage around the age of 50.
Purpose: To assess the association of clinical and biological factors with extensive macular atrophy with pseudodrusen (EMAP) characterized by bilateral macular atrophy occurring in patients aged 50 to 60 years and a rapid progression to legal blindness within 5 to 10 years.
Design: A national matched case-control study.
Participants: Participants were recruited in 10 French Departments of Ophthalmology and their associated clinical investigation centers.
Purpose: To describe a patient with mutations in KCNJ13 presenting particular clinical features.
Methods: Standard ophthalmic examination, fundus autofluorescence, spectral domain optical coherence tomography, full-field electroretinography. The 3 exons of KCNJ13 were polymerase chain reaction amplified and Sanger sequenced.