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Learn About Brittle Cornea Syndrome

What is the definition of Brittle Cornea Syndrome?
Brittle cornea syndrome (BCS) is a genetic disease involving the connective tissue in the eyes, ears, joints, and skin. The symptoms of BCS typically involve thinning of the protective outer layer of the eye (cornea), which may lead to tearing or rupture after minor damage to the cornea. Other eye symptoms may include nearsightedness (myopia), a blueish tint in the white part of the eyes (blue sclera), and retinal detachment. Other symptoms may include hearing loss, abnormal positioning of the hip bones (hip dysplasia), and soft skin with abnormal scarring. There are 2 types of BCS. BCS type 1 is caused by changes in the ZNF469 gene and BCS type 2 is caused by changes in the PRDM5 gene. BCS is inherited in an autosomal recessive manner. The diagnosis of BCS is made based on symptoms and may be confirmed through genetic testing.
What are the alternative names for Brittle Cornea Syndrome?
  • Brittle cornea syndrome
  • Corneal fragility, keratoglobus, blue sclerae, joint hyperextensibility
  • Dysgenesis mesodermalis corneae et sclerae
  • EDS VIB (formerly)
  • Ehlers-Danlos syndrome type 6B (formerly)
  • Fragilitas oculi with joint hyperextensibility
Who are the top Brittle Cornea Syndrome Local Doctors?
Medical Genetics | Pediatrics
Medical Genetics | Pediatrics

Ou Health Partners Inc

1200 Childrens Ave, 
Oklahoma City, OK 
 18.2 mi
Offers Telehealth

Tarachandra Narumanchi is a Medical Genetics specialist and a Pediatrics provider in Oklahoma City, Oklahoma. Dr. Narumanchi and is rated as an Experienced provider by MediFind in the treatment of Brittle Cornea Syndrome. His top areas of expertise are Phenylketonuria (PKU), Maternal Hyperphenylalaninemia, Dihydropteridine Reductase Deficiency, and Tyrosinemia Type 2.

Family Medicine
Family Medicine

Saints Medical Group, LLC

2749 Progressive Dr, 
Edmond, OK 
 32.1 mi
Accepting New Patients
Offers Telehealth

Robert Stewart is a Family Medicine provider in Edmond, Oklahoma. Dr. Stewart and is rated as an Experienced provider by MediFind in the treatment of Brittle Cornea Syndrome. His top areas of expertise are Bronchiectasis, Glucocorticoid-Remediable Aldosteronism, Familial Hypertension, and Hypertension. Dr. Stewart is currently accepting new patients.

 
 
 
 
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Geriatrics | Family Medicine
Geriatrics | Family Medicine

Legacy Healthcare Services Inc

7821 E 76th St, 
Tulsa, OK 
 104.4 mi
Accepting New Patients
Offers Telehealth

David Kraft is a Geriatrics specialist and a Family Medicine provider in Tulsa, Oklahoma. Dr. Kraft and is rated as an Experienced provider by MediFind in the treatment of Brittle Cornea Syndrome. His top areas of expertise are Insomnia, Glucocorticoid-Remediable Aldosteronism, Hypertension, and Familial Hypertension. Dr. Kraft is currently accepting new patients.

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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center