Sergio E. Silva-Estrela

Porto, Portugal

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 29 publications

Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome.

Ophthalmic, Systemic and Genetic Features in Wolfram Syndrome.

Journal: Neuro-ophthalmology (Aeolus Press)

Published: March 18, 2026

Clinical and Genetic Landscape of RPGR-Associated Retinal Dystrophies in Portugal: Insights From the Nationwide IRD-PT Registry.

Clinical and Genetic Landscape of RPGR-Associated Retinal Dystrophies in Portugal: Insights From the Nationwide IRD-PT Registry.

Journal: Clinical & experimental ophthalmology

Published: February 10, 2026

Successful goniosynechialysis for secondary angle-closure glaucoma after ocular jellyfish sting.

Successful goniosynechialysis for secondary angle-closure glaucoma after ocular jellyfish sting.

Journal: American journal of ophthalmology case reports

Published: October 20, 2025

A Rare RHO Variant and Its Phenotypic Spectrum in a Portuguese Family with Retinitis Pigmentosa: A Case Series.

A Rare RHO Variant and Its Phenotypic Spectrum in a Portuguese Family with Retinitis Pigmentosa: A Case Series.

Journal: Case reports in ophthalmology

Published: August 29, 2025

Exploring Concomitant Ophthalmic Comorbidities in Portuguese Patients with Inherited Retinal Diseases: A Comprehensive Clinical Study.

Exploring Concomitant Ophthalmic Comorbidities in Portuguese Patients with Inherited Retinal Diseases: A Comprehensive Clinical Study.

Journal: Genes

Published: May 21, 2025

Two novel variants in ALDH1A3 associated with anophthalmia and congenital cystic eye.

Two novel variants in ALDH1A3 associated with anophthalmia and congenital cystic eye.

Journal: Ophthalmic genetics

Published: January 02, 2025

Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.

Influence of CYP1B1 Variants on Phenotypic Characteristics and Therapeutic Outcomes in Primary Congenital Glaucoma.

Journal: Ophthalmology. Glaucoma

Published: October 25, 2024

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

Portuguese Society of Ophthalmology and Portuguese Society of Human Genetics Joint Clinical Practice Guidelines for Genetic Testing in Inherited Retinal Dystrophies.

Journal: Clinical genetics

Published: September 25, 2024

Retinal neurodegeneration, neuroretinal rim analysis and choroid thickness in pseudoexfoliation syndrome with spectral domain optical coherence tomography.

Retinal neurodegeneration, neuroretinal rim analysis and choroid thickness in pseudoexfoliation syndrome with spectral domain optical coherence tomography.

Journal: Scientific reports

Published: September 21, 2024

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.

Journal: NPJ genomic medicine

Published: August 05, 2024

Efficacy and Safety of Diode Laser Transscleral Cyclophotocoagulation in Patients with Glaucoma.

Efficacy and Safety of Diode Laser Transscleral Cyclophotocoagulation in Patients with Glaucoma.

Journal: Clinical ophthalmology (Auckland, N.Z.)

Published: June 19, 2024

Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.

Mutational spectrum and deep phenotyping in Pseudoxanthoma Elasticum: Findings from a Portuguese cohort.

Journal: European journal of ophthalmology

Published: April 11, 2024

Showing 1-12 of 29

Last Updated: 09/26/2026