Axenfeld-Rieger Syndrome, Type 2

Clinical Characteristics

Ocular Features:

As in RIEG1 [1] and RIEG3 [2], glaucoma is the most serious ocular problem. In a large family with 11 affected members, 9 had glaucoma. All had the classic ocular signs of anterior segment dysgenesis, primarily posterior embryotoxon and iris adhesions (for a full description of the ocular features see Axenfeld-Rieger syndrome, RIEG1 [1] [180500 [3]]).

Systemic Features:

Oligodontia, microdontia, and premature loss of teeth are common in type 2. Maxillary hypoplasia is less common as is hearing loss. Umbilical anomalies were not present in any affected individuals. Cardiac defects are rare.

Genetics

This is an autosomal dominant disorder as in the other types. The locus is at 13q14 but no molecular defect has been defined. At least two individuals purported to have type 2 were found to have deletions of this segment of chromosome 13.

Treatment

Treatment Options:

The high risk of glaucoma demands lifelong monitoring of intraocular pressure.

References

Article Title:

A second locus for Rieger syndrome maps to chromosome 13q14 [4]

Phillips JC, del Bono EA, Haines JL, Pralea AM, Cohen JS, Greff LJ, Wiggs JL. A second locus for Rieger syndrome maps to chromosome 13q14. Am J Hum Genet. 1996 Sep;59(3):613-9.

PubMed ID:

8751862

The Rieger syndrome and a chromosome 13 deletion [5]

Stathacopoulos RA, Bateman JB, Sparkes RS, Hepler RS. The Rieger syndrome and a chromosome 13 deletion. J Pediatr Ophthalmol Strabismus. 1987 Jul-Aug;24(4):198-203.

PubMed ID:

3117999