Filip L. Van Den Broeck

Gent, VLG, Belgium

Last Updated: 09/26/2026

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Found 18 publications

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

RPE65 Variant p.(E519K) Causes a Novel Dominant Adult-Onset Maculopathy in 83 Affected Individuals.

Journal: Investigative ophthalmology & visual science

Published: September 23, 2025

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K).

Generation and characterization of three human induced pluripotent stem cell lines (UGENTi005, UGENTi006 and UGENTi007) from patients with autosomal dominant adult-onset maculopathy due to RPE65 variant c.1555G>A, p.(E519K).

Journal: Stem cell research

Published: August 05, 2025

Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis.

Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis.

Journal: Acta ophthalmologica

Published: June 04, 2025

Progression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt Disease.

Progression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt Disease.

Journal: Investigative ophthalmology & visual science

Published: April 28, 2025

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

Bi-allelic loss-of-function variants in POC5 cause a syndromic retinal, endocrine, and neuromuscular ciliopathy.

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

Published: October 29, 2024

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

A novel recurrent ARL3 variant c.209G > A p.(Gly70Glu) causes variable non-syndromic dominant retinal dystrophy with defective lipidated protein transport in human retinal stem cell models.

Journal: Human molecular genetics

Published: October 25, 2024

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Journal: Journal of inherited metabolic disease

Published: October 15, 2024

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy.

Journal: American journal of human genetics

Published: September 12, 2024

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

Characteristics of autosomal dominant WFS1-associated optic neuropathy and its comparability to OPA1-associated autosomal dominant optic atrophy.

Journal: Scientific reports

Published: July 03, 2024

Automated Cone Photoreceptor Detection in Adaptive Optics Flood Illumination Ophthalmoscopy.

Automated Cone Photoreceptor Detection in Adaptive Optics Flood Illumination Ophthalmoscopy.

Journal: Ophthalmology science

Published: June 05, 2024

A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).

A cohort study of 19 patients with gyrate atrophy of the choroid and retina (GACR).

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

Published: January 30, 2024

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.

Mutations in SAMD7 cause autosomal-recessive macular dystrophy with or without cone dysfunction.

Journal: American journal of human genetics

Published: September 11, 2023

Showing 1-12 of 18

Last Updated: 09/26/2026