Ring chromosome 6 (aniridia, congenital glaucoma, and hydrocephalus)

General: Rare disorder associated with various congenital anomalies; autosomal dominant with recessive 111b11b sporadically reported.

Ocular: Microphthalmia; aniridia; congenital uveal ectropion; Rieger anomaly; congenital glaucoma; corneal clouding; prominent Schwalbe line with attached iris strands; hypopigmented fundi; hypoplasia of iris stroma; strabismus; ptosis; nystagmus; megalocornea; iris coloboma; optic atrophy; hypertelorism; antimongoloid slant of palpebral fissures; ectopic pupils; angle anomalies; posterior embryotoxon; microcornea; colobomatous.

Clinical: Hydrocephalus; agenesis of corpus callosum; congenital heart defects; mental retardation; low-set malformed ears; broad nasal bridge; micrognathia; short neck; hand anomalies; high-arched palate; widely spaced nipples; deformity of feet; respiratory distress syndrome; hyperbilirubinemia; hypocalcemia; anemia; seizure; bulging anterior fontanelle.

Bateman JB. Chromosomal anomalies and the eye. In: Wright KW, ed. Pediatric Ophthalmology and Strabismus. St. Louis: Mosby, 1995:595.

Chitayat D, et al. Ring chromosome 6: report of a patient and literature review. Am J Med Genet 1987; 26:145-l51.

Deluise UP, Anderson DR. Primary infantile glaucoma. Surv Ophthalmol 1983; 28:1-l9.

Levin H, et al. Aniridia, congenital glaucoma and hydrocephalus in a male infant with ring chromosome 6. Am J Med Genet 1986; 25:281-287.