Knobloch syndrome is an inherited disorder characterized by high myopia, retinal detachment, and occipital defects. Disease-causing mutations have been identified in the gene. This study aimed to investigate novel variants of in Knobloch syndrome and describe the associated phenotypes in Chinese patients. We reported six patients with Knobloch syndrome from four unrelated families in whom we identified five novel mutations. Clinical examination showed that all probands presented with high myopia, chorioretinal atrophy, and macular defects; one exhibited rhegmatogenous retinal detachment in one eye. Occipital defects were detected in one patient.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8536191 | PMC |
| http://dx.doi.org/10.3390/genes12101512 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Clinical and Molecular Findings in Patients with Knobloch Syndrome 1: Case Series Report.
Genes (Basel)
October 2024
Research Centre for Medical Genetics, 115522 Moscow, Russia.
Background/objectives: Knobloch syndrome 1 (KS) is an autosomal recessive inherited ocular syndrome characterized by a combination of high myopia, vitreoretinal degeneration, and occipital encephalocele. KS is caused by biallelic pathogenic variants in the gene. Diagnosing KS can be challenging due to its clinical heterogeneity and the rarity of the syndrome.
View Article and Find Full Text PDFAmniotic membrane graft for persistent macular hole following retinal detachment repair in Knobloch syndrome.
J AAPOS
December 2024
Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates; Department of Ophthalmology, Cleveland Clinic Lerner College of Medicine of Case Western Reserve University, Cleveland, Ohio. Electronic address:
We report the case of a 7-year-old girl with Knobloch syndrome who presented with retinal detachment due to a macular hole, which was treated with vitrectomy and silicone oil tamponade. The macular hole persisted, and recurrent silicone oil emulsification required exchanges, with two subsequent vitrectomies. Finally, an amniotic membrane graft was used to seal the macular hole in an effort to avoid silicone oil dependence for retinal attachment.
View Article and Find Full Text PDFNew kinase-deficient PAK2 variants associated with Knobloch syndrome type 2.
Clin Genet
October 2024
Institute of Hematology and Blood Transfusion, Prague, Czech Republic.
Article Synopsis
- - The p21-activated kinase (PAK) family regulates important cellular processes, including cell adhesion, movement, growth, and programmed cell death, with PAK2 specifically playing a role in apoptosis and angiogenesis.
- - A new missense variant, p.(Thr406Met), was discovered in a newborn with symptoms of Knobloch syndrome, alongside another variant, p.(Asp425Asn), both leading to significantly reduced PAK2 protein activity.
- - These findings suggest that deficiencies in PAK2 are linked to a second form of Knobloch syndrome, known as KNO2, supporting previous research on related PAK2 variants.
A variant in detected in an individual with Knobloch type 2 syndrome.
bioRxiv
April 2024
Connecticut Children's Medical Center, Hartford, CT 06106, USA.
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic variants cause Knobloch syndrome type 2 (KNO2)-a developmental disorder primarily characterized by ocular anomalies. Here, we identified a novel heterozygous missense variant in NM_002577.
View Article and Find Full Text PDFBackground: Knobloch syndrome (KNO, OMIM # 267,750) is a rare ciliopathy group sydrome characterized by a collagen synthesis disorder. It represents an uncommon cause of pediatric retinal detachment. This report presents two cases with different COL18A1 gene mutations, complicated by retinal detachment.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!