Heather G. Mack

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 84 publications

Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses.

Monogenic kidney disease and monogenic diabetes are present in renal clinic patients with non-genetic diagnoses.

Journal: Scientific reports

Published: February 05, 2026

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Determination of the Population Frequency of Monoallelic and Biallelic Predicted Pathogenic RPE65 Variants in a Normal Database.

Journal: Investigative ophthalmology & visual science

Published: August 29, 2025

Real-World Engagement with Free Genotyping by Patients with Inherited Retinal Disease in a Single Private Retinal Centre in Australia.

Real-World Engagement with Free Genotyping by Patients with Inherited Retinal Disease in a Single Private Retinal Centre in Australia.

Journal: Seminars in ophthalmology

Published: June 30, 2025

Inherited Retinal Disease or Age-Related Macular Degeneration: Predictive Value of Genetic Testing in Macular Disease With Atypical Atrophy.

Inherited Retinal Disease or Age-Related Macular Degeneration: Predictive Value of Genetic Testing in Macular Disease With Atypical Atrophy.

Journal: Clinical & experimental ophthalmology

Published: June 03, 2025

Retrospective audit reviewing accuracy of clinical diagnosis of geographic atrophy in a single centre private tertiary retinal practice in Australia.

Retrospective audit reviewing accuracy of clinical diagnosis of geographic atrophy in a single centre private tertiary retinal practice in Australia.

Journal: Scientific reports

Published: December 15, 2024

THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease.

THE FIGHT INHERITED RETINAL BLINDNESS! PROJECT: A New Treatment Outcome and Natural History Registry for Inherited Retinal Disease.

Journal: Retina (Philadelphia, Pa.)

Published: October 17, 2024

Forty-year odyssey to Refsum disease diagnosis: impact of diagnostic delay on effective treatment.

Forty-year odyssey to Refsum disease diagnosis: impact of diagnostic delay on effective treatment.

Journal: Clinical & experimental optometry

Published: September 15, 2024

Retinal Gene Therapy: Perceptions of Ophthalmologists in Australia and New Zealand.

Retinal Gene Therapy: Perceptions of Ophthalmologists in Australia and New Zealand.

Journal: Clinical & experimental ophthalmology

Published: August 02, 2024

Skin fragility disorder misdiagnosed as child abuse: a cautionary tale.

Skin fragility disorder misdiagnosed as child abuse: a cautionary tale.

Journal: The Medical journal of Australia

Published: March 15, 2024

Reply: Stroke-like episode of the optic nerve.

Reply: Stroke-like episode of the optic nerve.

Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

Published: January 27, 2024

A multinational survey of potential participant perspectives on ocular gene therapy.

A multinational survey of potential participant perspectives on ocular gene therapy.

Journal: Gene therapy

Published: December 11, 2023

Syndromic PRD: case report of McArdle retinopathy and review of literature.

Syndromic PRD: case report of McArdle retinopathy and review of literature.

Journal: Canadian journal of ophthalmology. Journal canadien d'ophtalmologie

Published: November 26, 2023

Showing 1-12 of 84

Last Updated: 09/26/2026