Glaucoma Inheritance Study in Tasmania (GIST) II: Autosomal dominant optic atrophy (chromosome 3q) resembles low tension glaucoma in some family members

Abstract

Purpose. To clarify the difference between autosomal dominant optic atrophy (ADOA) on chromosome 3q, and primary open angle glaucoma (POAG) or low tension glaucoma (LTG), we examined two ADOA pedigrees according to our standard glaucoma protocol. Method. Two families, with linkage to the 3q locus for ADOA, were examined according a standardised glaucoma protocol: history, visual acuity, Humphrey 24-2 fields, intraocular pressure, stereodisc photography, and Farnsworth-Munsell 100 hue. Results. The family from NSW had 42 out of 77 definitely affected individuals, while the family from Tasmania had 7 out of 15 definitely affected individuals. Across both families, 13 had reduced acuity, abnorm..