Enid S. Chelva

2 Verdun Street
Nedlands, WA, Australia

Last Updated: 09/26/2026

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Found 21 publications

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.

ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological Findings.

Journal: Investigative ophthalmology & visual science

Published: April 14, 2026

Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.

Autosomal dominant Riggs-type congenital stationary night blindness with fundus sheen and retinal atrophy due to a novel GNAT1 p.Gln200Arg variant.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: December 30, 2025

Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (RGS9).

Multimodal imaging and electrophysiological features in bradyopsia associated with homozygous variants (c.895T>C) in Regulator of G-protein Signaling 9 (RGS9).

Journal: Ophthalmic genetics

Published: September 16, 2025

CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features.

CTNNA1-associated retinal dystrophy: novel multimodal imaging and electrophysiology features.

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: October 29, 2024

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Retinal Dystrophies Associated With Peripherin-2: Genetic Spectrum and Novel Clinical Observations in 241 Patients.

Journal: Investigative ophthalmology & visual science

Published: May 14, 2024

Retinal Differential Light Sensitivity Variation Across the Macula in Healthy Subjects: Importance of Cone Separation and Loci Eccentricity.

Retinal Differential Light Sensitivity Variation Across the Macula in Healthy Subjects: Importance of Cone Separation and Loci Eccentricity.

Journal: Translational vision science & technology

Published: June 10, 2021

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.

Multimodal Retinal Imaging and Microperimetry Reveal a Novel Phenotype and Potential Trial End Points in CRB1-Associated Retinopathies.

Journal: Translational vision science & technology

Published: May 18, 2021

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.

Deep clinical phenotyping and gene expression analysis in a patient with RCBTB1-associated retinopathy.

Journal: Ophthalmic genetics

Published: February 24, 2021

Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.

Progressive sector retinitis pigmentosa due to c.440G>T mutation in SAG in an Australian family.

Journal: Ophthalmic genetics

Published: October 13, 2020

Evaluation of focus and deep learning methods for automated image grading and factors influencing image quality in adaptive optics ophthalmoscopy.

Evaluation of focus and deep learning methods for automated image grading and factors influencing image quality in adaptive optics ophthalmoscopy.

Journal: Scientific reports

Published: October 13, 2020

Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy.

Exploring microperimetry and autofluorescence endpoints for monitoring disease progression in PRPF31-associated retinopathy.

Journal: Ophthalmic genetics

Published: September 28, 2020

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).

A novel phenotype in a family with autosomal dominant retinal dystrophy due to c.1430A > G in retinoid isomerohydrolase (RPE65) and c.37C > T in bestrophin 1 (BEST1).

Journal: Documenta ophthalmologica. Advances in ophthalmology

Published: September 21, 2020

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Last Updated: 09/26/2026