Rieger Syndrome

What is it?

• Under-developed or missing teeth
• Mild craniofacial abnormalities
• Various abnormalities of the eye

How Common is it?

• Rieger syndrome is a rare disorder that affects males and females in about equal numbers.

How is it Inherited?

• Autosomal Dominant pattern
• 2 forms: Type 1 & Type 2

Chromosomes Affected

• Type 1 occurs on Chromosome 4: PITX
• Type 2 occurs on Chromosome 13: not identifie

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Symptoms

• Corectopia & Polycoria
• Hypertelorism
• Abnormal Facial Features

Prominent Forehead

Main Symptom: Glaucoma

• Increased pressure within eyeball
• Lead to blindness

How are they related?

• Defects in the angle of the eye
• The corner of the eye
• Adhesions associated with Rieger syndrome

Treatments

• Therapy is one of the main treatments.

Treatments

• Drug therapy is the primary treatment for glaucoma, usually consisting of eye drops.
• Laser Surgery if the the pressure in the eye is not relieved by medications: Last resort
• Prosthesis

Interesting Facts

• There are many organizations that are trying to help people with Rieger Syndrome even though it is rare
• Many symptoms have sometimes occurred in association with Rieger syndrome but researchers can't agree as to whether they are separate entities or part of Rieger syndrome itself

More Interesting Facts

• The chance of getting this syndrome is 1 in 200,000
• There are 8 clinical trials

The following disorders share similarities with Rieger syndrome:

Axenfeld-Rieger anomaly

Axenfeld-Rieger anomaly

• It's primarily a eye disorder but it can affect other parts of the body
• the colored part of the eye (the iris), may be thin or poorly developed
• This condition can also cause abnormalities of the cornea, which is the clear front covering of the eye.

Cataract-dental syndrome

Cataract-dental syndrome

• It as well is a rare genetic disorder that can be seen at birth.
• It is also known as Nance-Horan Syndrome
• Abnormalities of the teeth and clouding of the lens of the eyes
• Which results in poor vision

Sources

• https://rarediseases.org/rare-diseases/rieger-syndrome/
• https://ghr.nlm.nih.gov/condition/axenfeld-rieger-syndrome
• http://www.webmd.com/oral-health/cataract-dental-syndrome
• https://rarediseases.info.nih.gov/diseases/5701/axenfeld-rieger-syndrome
• http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=782