4 documents found, page 1 of 1
Demographic Characterization of Uveal Melanoma Population in Portugal
Geada, Sara; Neves, Emmanuel; Teixeira, Tânia; César Simões, Paulo; Fonseca, Cristina; Proença, RuiINTRODUCTION: Uveal melanoma (UM) is the most common intraocular tumor and although rare, remains a clinical challenge for ocular oncologists. Therapeutic options have evolved throughout the years, focusing in eye-conserving modalities. However, long-term survival remains unchanged. Advances in early diagnosis and treatment represent a step forward in improving patients’ outcomes and survival. The purpose of th...
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfact...
Geada, Sara; Teixeira-Marques, Francisco; Teixeira, Bruno; Carvalho, Ana Luísa; Lousan, Nuno; Saraiva, Jorge; Murta, Joaquim; Silva, RufinoCNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and olfactory phenotypes of a multiethnic cohort with CNGB1-associated RP. A cross-sectional case series was conducted at two ophthalmic genetics referral centers. Consecutive patients...
Genomic Landscape and Natural History of Sector Retinitis Pigmentosa
Cortinhal, Telmo; Geada, Sara; Neves, Emmanuel; Carvalho, Ana Luísa; Saraiva, Jorge; Silva, Rufino; Murta, Joaquim; Marques, João PedroIntroduction: Sector retinitis pigmentosa (sRP) is a rare, atypical, and milder variant of rod-cone degeneration. Despite historically associated with RHO gene, the mutational spectrum of sRP is evolving with multiple causative genes recently implicated. This study aimed to characterize the genotypes, phenotypes, and natural history of a Portuguese cohort of sRP. Methods: Retrospective, observational study, c...
Molecular and Multimodal Retinal Imaging Findings in a Multicentric Portuguese ...
Geada, Sara; Santos, Cristina; Vaz-Pereira, Sara; Marta, Ana; Correia, Marta; Sousa, Keissy; Soares, Mário; Carvalho, Ana Luísa; Saraiva, JorgeIntroduction Our purpose was to describe the molecular and multimodal retinal imaging findings in a cohort of Portuguese patients with a clinical diagnosis of Stargardt Disease (STGD1). Methods Multicenter, cross sectional cohort study of consecutive patients with a clinical diagnosis of STGD1, referred from six Portuguese centers. All patients underwent a complete ophthalmological examination complemented by...