Fernanda O. Porto

Belo Horizonte, MG, Brazil

Last Updated: 09/26/2026

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Found 13 publications

RPGR-Related Retinal Dystrophy in Latin America-A Collaborative Study.

RPGR-Related Retinal Dystrophy in Latin America-A Collaborative Study.

Journal: American journal of ophthalmology

Published: March 12, 2025

Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.

Posterior microphthalmos with retinal involvement related to MFRP gene: a report of 10 Brazilian patients.

Journal: Ophthalmic genetics

Published: April 01, 2024

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.

Comparative analysis of in-silico tools in identifying pathogenic variants in dominant inherited retinal diseases.

Journal: Human molecular genetics

Published: January 08, 2024

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.

Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.

Journal: Ophthalmic genetics

Published: August 18, 2023

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Journal: bioRxiv : the preprint server for biology

Published: February 15, 2023

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Systematic assessment of the contribution of structural variants to inherited retinal diseases.

Journal: Human molecular genetics

Published: October 24, 2022

EYS-Associated Sector Retinitis Pigmentosa.

EYS-Associated Sector Retinitis Pigmentosa.

Journal: Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie

Published: May 27, 2021

Birdshot retinochoroiditis in Brazil: a multicenter review of 40 patients.

Birdshot retinochoroiditis in Brazil: a multicenter review of 40 patients.

Journal: International journal of retina and vitreous

Published: April 27, 2021

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.

LEBER CONGENITAL AMAUROSIS DUE TO CEP290 MUTATIONS-SEVERE VISION IMPAIRMENT WITH A HIGH UNMET MEDICAL NEED: A Review.

Journal: Retina (Philadelphia, Pa.)

Published: February 17, 2021

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.

Clinical and molecular findings in a cohort of 152 Brazilian severe early onset inherited retinal dystrophy patients.

Journal: American journal of medical genetics. Part C, Seminars in medical genetics

Published: May 25, 2020

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.

Ceramide synthase TLCD3B is a novel gene associated with human recessive retinal dystrophy.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: May 20, 2020

Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.

Pathogenicity Reclasssification of RPE65 Missense Variants Related to Leber Congenital Amaurosis and Early-Onset Retinal Dystrophy.

Journal: Genes

Published: October 26, 2019

Showing 1-12 of 13

Last Updated: 09/26/2026