Carvalho Ana Luísa

Marques João Pedro, Pinheiro Rosa, Carvalho Ana Luísa, Raimundo Miguel, Soares Mário, Melo Pedro et al.

This study of female RPGR carriers found severe retinal phenotypes are common and temporal pRNFL thickening correlates with advanced disease, expanding understanding of RPGR-associated retinal degeneration in women.

Marques João Pedro, Porto Fernanda Belga Ottoni, Carvalho Ana Luísa, Neves Emmanuel, Chen Rui, Sampaio Shirley Aparecida Madureira et al.

This study found EYS gene mutations cause sector retinitis pigmentosa, presenting with specific retinal atrophy patterns. This highlights EYS as an important differential diagnosis for sector RP.