Brittle cornea syndrome 1

A hereditary autosomal recessive disorder characterized by by blue SCLERA, corneal rupture after minor trauma, KERATOCONUS or keratoglobus, hyperelasticity of the skin, and hypermobility of the joints. Mutations in the ZNF469 gene have been identified. OMIM: 229200.

Also Known As:

Brittle cornea syndrome; Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility; Dysgenesis Mesodermalis Corneae et Sclerae; Ehlers-Danlos Syndrome, Type VIB; Ehlers-Danlos syndrome 6B; Fragilitas oculi with joint hyperextensibility

Networked: 11 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Keratoconus
2.	Connective Tissue Diseases (Connective Tissue Disease)
3.	Corneal Perforation
4.	Spontaneous Perforation
5.	Posterior Amorphous Corneal Dystrophy

Experts

1.	Black, Graeme C: 2 articles (12/2015 - 10/2014)
2.	Porter, Louise F: 2 articles (12/2015 - 10/2014)
3.	Aldave, Anthony J: 1 article (01/2021)
4.	Barrington, Alice: 1 article (01/2021)
5.	Chen, Angela C: 1 article (01/2021)
6.	Chung, Doug D: 1 article (01/2021)
7.	Frausto, Ricardo F: 1 article (01/2021)
8.	Magalhaes, Otavio A: 1 article (01/2021)
9.	Yung, Madeline: 1 article (01/2021)
10.	Zhang, Junwei: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Brittle cornea syndrome 1:

1.	Proteins (Proteins, Gene)FDA Link 10/15/2014 - "Homozygous mutations in ZNF469 and PR domain-containing protein 5 (PRDM5) genes result in brittle cornea syndrome (BCS) Types 1 and 2, respectively. " 12/01/2017 - "The Zinc Finger Protein 469 (ZNF469) gene has been proposed as a candidate gene for keratoconus due to the association of an upstream polymorphism (rs9938149) with the disease in two independent studies, and the role of the gene in the autosomal recessive disease Brittle Cornea Syndrome. " 01/01/2015 - "A novel mutation, the homozygous variant c.17T>G, p.V6G, was found in the gene for PR-domain-containing protein 5 (PRDM5) in exon 1. Brittle cornea syndrome is a rare connective tissue disease with typical ocular, auditory, musculoskeletal, and cutaneous disorders. " 08/05/2014 - "Mutations in the zinc finger protein gene ZNF469 cause recessive brittle cornea syndrome, characterized by spontaneous corneal perforations. "
2.	Transcription Factors (Transcription Factor)IBA 12/01/2015 - "Type 2 brittle cornea syndrome (BCS2) is an inherited connective tissue disease with a devastating ocular phenotype caused by mutations in the transcription factor PR domain containing 5 (PRDM5) hypothesized to exert epigenetic effects through histone and DNA methylation. "
3.	2-Oxoglutarate 5-Dioxygenase Procollagen-Lysine (Lysyl Hydroxylase)IBA 04/01/1990 - "However, the hydroxylysine content of dermal collagen was normal, as was the activity of lysyl hydroxylase in cultured dermal fibroblasts, thus supporting the distinction of the brittle cornea syndrome as an independent entity. "
4.	HydroxylysineIBA 04/01/1990 - "However, the hydroxylysine content of dermal collagen was normal, as was the activity of lysyl hydroxylase in cultured dermal fibroblasts, thus supporting the distinction of the brittle cornea syndrome as an independent entity. "
5.	Histones (Histone)IBA 12/01/2015 - "Type 2 brittle cornea syndrome (BCS2) is an inherited connective tissue disease with a devastating ocular phenotype caused by mutations in the transcription factor PR domain containing 5 (PRDM5) hypothesized to exert epigenetic effects through histone and DNA methylation. "
6.	CollagenIBA 04/01/1990 - "Brittle cornea syndrome: an heritable connective tissue disorder distinct from Ehlers-Danlos syndrome type VI and fragilitas oculi, with spontaneous perforations of the eye, blue sclerae, red hair, and normal collagen lysyl hydroxylation." 04/01/1990 - "However, the hydroxylysine content of dermal collagen was normal, as was the activity of lysyl hydroxylase in cultured dermal fibroblasts, thus supporting the distinction of the brittle cornea syndrome as an independent entity. "
7.	Anesthetics (Anesthetic Agents)IBA 03/01/2011 - "Peripartum anesthetic management of a patient with brittle cornea syndrome."
8.	cytoplasmic protein A (PACD)IBA 01/01/2021 - "Sanger sequencing was performed to identify mutations in genes associated with posterior amorphous corneal dystrophy (PACD), brittle cornea syndrome (BCS), and posterior polymorphous corneal dystrophy (PPCD), while copy number variation (CNV) analysis was used to identify CNV in the PACD locus. "
9.	zinc-binding protein (zinc binding protein)IBA 08/01/2011 - "Mutational analysis of 12 patients with the phenotype of Ehlers-Danlos syndrome type VIB shows no linkage to the zinc transporter gene SLC39A13."

Therapies and Procedures

1.	Penetrating Keratoplasty 04/18/2023 - "Penetrating keratoplasty in brittle Cornea syndrome: Case series and review of the literature."
2.	Therapeutics 01/01/2015 - "In addition to describing the case with a novel mutation here we review the current literature on brittle cornea syndrome pathogenesis, clinical findings, and therapy. "
3.	Corneal Cross-Linking 10/01/2015 - "To describe corneal cross-linking (CXL) as a treatment option for brittle cornea syndrome (BCS). " 10/01/2015 - "Corneal Cross-Linking for Brittle Cornea Syndrome."