Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 01/07/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 110 publications

Sorsby Pseudoinflammatory Fundus Dystrophy.

Sorsby Pseudoinflammatory Fundus Dystrophy.

Journal: Advances in experimental medicine and biology
Published: July 30, 2025

Sorsby Fundus Dystrophy in an Asian Pedigree: Pathogenic Timp3 P.Y191c Variant Impairs Its Binding with Mmp2/9 and Cellular Localization.

Sorsby Fundus Dystrophy in an Asian Pedigree: Pathogenic Timp3 P.Y191c Variant Impairs Its Binding with Mmp2/9 and Cellular Localization.

Journal: Clinical ophthalmology (Auckland, N.Z.)
Published: July 27, 2025

Differential Diagnosis of Age-Related Macular Degeneration.

Differential Diagnosis of Age-Related Macular Degeneration.

Journal: Klinische Monatsblatter fur Augenheilkunde
Published: January 17, 2025

Differential Diagnosis of Age-Related Macular Degeneration.

Differential Diagnosis of Age-Related Macular Degeneration.

Journal: Klinische Monatsblatter fur Augenheilkunde
Published: January 17, 2025

Metabolic Phenotyping of Healthy and Diseased Human RPE Cells.

Metabolic Phenotyping of Healthy and Diseased Human RPE Cells.

Journal: Investigative ophthalmology & visual science
Published: September 04, 2024

Optical Coherence Tomography in Inherited Macular Dystrophies: A Review.

Optical Coherence Tomography in Inherited Macular Dystrophies: A Review.

Journal: Diagnostics (Basel, Switzerland)
Published: March 17, 2024

Metabolic phenotyping of healthy and diseased human RPE cells.

Metabolic phenotyping of healthy and diseased human RPE cells.

Journal: bioRxiv : the preprint server for biology
Published: March 11, 2024

Generation of an induced pluripotent stem cell line (SJTUGHi003-A) from a patient with Sorsby fundus dystrophy carrying c.484G>A mutation in TIMP3 gene.

Generation of an induced pluripotent stem cell line (SJTUGHi003-A) from a patient with Sorsby fundus dystrophy carrying c.484G>A mutation in TIMP3 gene.

Journal: Stem cell research
Published: March 09, 2024

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.

Journal: International journal of molecular sciences
Published: February 12, 2024

TIMP3 c.319C>T, p.(Arg107Cys): Novel Sequence Variant In Sorsby Fundus Dystrophy.

TIMP3 c.319C>T, p.(Arg107Cys): Novel Sequence Variant In Sorsby Fundus Dystrophy.

Journal: Nepalese journal of ophthalmology : a biannual peer-reviewed academic journal of the Nepal Ophthalmic Society : NEPJOPH
Published: January 01, 2024

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromes.

Journal: Progress in retinal and eye research
Published: October 26, 2023

Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.

Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.

Journal: Molecular vision
Published: October 09, 2023
Showing 1-12 of 110

Last Updated: 01/07/2026