Knobloch Syndrome Latest Advances

Find the Latest Research About Knobloch Syndrome

Last Updated: 02/24/2026

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Found 54 publications

A family with Knobloch syndrome.

A family with Knobloch syndrome.

Journal: Ophthalmic genetics
Published: November 25, 2025

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.

Biallelic Rare COL18A1 Variants in Patients With Neurological Phenotypes Without Severe Ophthalmologic Abnormalities.

Journal: Pediatric neurology
Published: July 14, 2025

Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.

Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia.

Journal: Genes
Published: June 23, 2025

Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.

Occipital Cephalocele, Polymicrogyria, Ocular Anomaly and Vermian Dysplasia: Prenatal Markers for Knobloch Syndrome.

Journal: Prenatal diagnosis
Published: April 04, 2025

A Sandwich-Type Double-Layer Amniotic Membrane Graft for Repairing Myopic Macular Hole-Related Retinal Detachment in a Child with Knobloch Syndrome.

A Sandwich-Type Double-Layer Amniotic Membrane Graft for Repairing Myopic Macular Hole-Related Retinal Detachment in a Child with Knobloch Syndrome.

Journal: Turkish journal of ophthalmology
Published: February 27, 2025

Ophthalmological and Genetic Profile in Knobloch Syndrome.

Ophthalmological and Genetic Profile in Knobloch Syndrome.

Journal: American journal of ophthalmology
Published: February 22, 2025

OPHTHALMOLOGICAL AND GENETIC PROFILE IN KNOBLOCH SYNDROME: Ocular and Genetic Features of Knobloch Syndrome.

OPHTHALMOLOGICAL AND GENETIC PROFILE IN KNOBLOCH SYNDROME: Ocular and Genetic Features of Knobloch Syndrome.

Journal: American journal of ophthalmology
Published: February 22, 2025

Retinal detachment in a neonate with congenital chylothorax and purpura fulminans associated with the PAK2 genetic variant: A case report.

Retinal detachment in a neonate with congenital chylothorax and purpura fulminans associated with the PAK2 genetic variant: A case report.

Journal: International journal of surgery case reports
Published: November 06, 2024

Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.

Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.

Journal: Genes
Published: August 21, 2024

A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.

A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.

Journal: bioRxiv : the preprint server for biology
Published: May 07, 2024

New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.

New kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.

Journal: Clinical genetics
Published: March 06, 2024

Amniotic membrane graft for persistent macular hole following retinal detachment repair in Knobloch syndrome.

Amniotic membrane graft for persistent macular hole following retinal detachment repair in Knobloch syndrome.

Journal: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus
Published: February 27, 2024
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Last Updated: 02/24/2026