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March 1987

Primary Congenital Glaucoma in a Patient With Trisomy 2q(q33→qter) and Monosomy 9p(p24→pter)

Author Affiliations

Sapporo, Japan
Nagasaki, Japan

Arch Ophthalmol. 1987;105(3):323-324. doi:10.1001/archopht.1987.01060030037016

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To the Editor.  —With recent development of chromosome-banding techniques, several patients with congenital glaucoma due to a chromosomal abnormality have been described.1,2 Though primary congenital glaucoma (PCG) has been considered to be an autosomal-recessive trait, clinical examinations have demonstrated that the glaucoma of such patients had the characteristics of PCG. We recently encountered a boy with both PCG and a chromosome abnormality.

Report of a Case.  —The patient, born at 42 weeks' gestation and weighing 3500 g, was the third child of healthy parents. He was first seen by us at 119 days of age. Intraocular pressure in each eye was 50.62 mm Hg, as measured by a Schiötz tonometer with the patient under anesthesia. The corneas of both eyes were hazy, with a rupture of Descemet's membrane. The horizontal and vertical diameters of the cornea were 13 mm and 12.5 mm, respectively, in each eye. Anterior chambers were

Godde-Jolly D, Bonnenfant F, Raoul O, et al:  A propos d'un cas de glaucome congenital associe a une anomalie chromosomique . Bull Soc Ophtalmol Fr 1970;70:875-881.
Broughton WL, Rosenbaum KN, Beauchamp GR:  Congenital glaucoma and other ocular abnormalities associated with pericentric inversion of chromosome: II . Arch Ophthalmol 1983;101:594-597.Article
De Grouchy J, Turleau C: Clinical Atlas of Human Chromosomes , ed 2. New York, John Wiley & Sons, 1984, pp 28-31, 158-163.