Disc excavation in dominant optic atrophy: differentiation from normal tension glaucoma. 2001

A V Fournier, and K F Damji, and D L Epstein, and S C Pollock
University of Ottawa Eye Institute, Ottawa, Ontario, Canada. afournier@cheo.on.ca

OBJECTIVE In patients with dominant optic atrophy (DOA, Kjer type), excavation of the optic nerve develops, and these patients may be misdiagnosed as having normal tension glaucoma (NTG). This study examined disc morphologic features in patients with DOA and explored features that help distinguish this condition from NTG. METHODS Noncomparative, observational case series. METHODS Patients with DOA who were seen at the Duke University Eye Center between 1987 and 1996 and who had bilateral optic nerve photographs. METHODS Retrospective chart review of the results of visual acuity testing, visual field testing by Goldmann perimetry, color vision testing, intraocular pressure measurement, and observation of bilateral optic nerve photographs. METHODS Appearance of the optic disc and peripapillary zone in patients with DOA. RESULTS Nine patients were identified. The mean age at the time of evaluation was 28 years (range, 11-62 years). Most patients had a mild to moderate reduction in visual acuity. Color vision as tested with Hardy-Rand-Rittler plates was reduced (4.0/10 +/- 4.2/10). A cup-to-disc ratio of more than 0.5 was observed in at least one eye of eight patients. A temporal wedge-shaped area of excavation was observed in 14 of the 18 eyes studied. Moderate to severe temporal pallor was observed in all of the eyes. Pallor of the remaining (noncupped) neuroretinal rim was also observed consistently, ranging from mild to moderate. A gray crescent and some degree of peripapillary atrophy were noted in all eyes. CONCLUSIONS Several clinical features, including early age of onset, preferential loss of central vision, sparing of the peripheral fields, pallor of the remaining neuroretinal rim, and a family history of unexplained visual loss or optic atrophy, help to distinguish patients with DOA from those with NTG.

UI MeSH Term Description Entries
D007429 Intraocular Pressure The pressure of the fluids in the eye. Ocular Tension,Intraocular Pressures,Ocular Tensions,Pressure, Intraocular,Pressures, Intraocular,Tension, Ocular,Tensions, Ocular
D008297 Male Males
D008875 Middle Aged An adult aged 45 - 64 years. Middle Age
D009898 Optic Disk The portion of the optic nerve seen in the fundus with the ophthalmoscope. It is formed by the meeting of all the retinal ganglion cell axons as they enter the optic nerve. Blind Spot,Optic Disc,Optic Nerve Head,Optic Papilla,Blind Spots,Disc, Optic,Disk, Optic,Head, Optic Nerve,Nerve Head, Optic,Optic Discs,Optic Disks,Optic Nerve Heads,Optic Papillas,Papilla, Optic,Papillas, Optic,Spot, Blind
D010375 Pedigree The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition. Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D002648 Child A person 6 to 12 years of age. An individual 2 to 5 years old is CHILD, PRESCHOOL. Children
D003117 Color Vision Defects Defects of color vision are mainly hereditary traits but can be secondary to acquired or developmental abnormalities in the CONES (RETINA). Severity of hereditary defects of color vision depends on the degree of mutation of the ROD OPSINS genes (on X CHROMOSOME and CHROMOSOME 3) that code the photopigments for red, green and blue. Achromatopsia,Color Blindness,Monochromatopsia,Color Blindness, Acquired,Color Blindness, Blue,Color Blindness, Green,Color Blindness, Inherited,Color Blindness, Red,Color Blindness, Red-Green,Color Vision Deficiency,Deutan Defect,Protan Defect,Tritan Defect,Achromatopsias,Acquired Color Blindness,Blindness, Color,Blue Color Blindness,Color Blindness, Red Green,Color Vision Defect,Color Vision Deficiencies,Defect, Color Vision,Defect, Deutan,Defects, Color Vision,Deficiencies, Color Vision,Deficiency, Color Vision,Green Color Blindness,Inherited Color Blindness,Red Color Blindness,Red-Green Color Blindness,Vision Defect, Color,Vision Defects, Color,Vision Deficiencies, Color,Vision Deficiency, Color
D003937 Diagnosis, Differential Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures. Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005260 Female Females
D005902 Glaucoma, Open-Angle Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris. Glaucoma Simplex,Glaucoma, Pigmentary,Glaucoma, Simple,Open-Angle Glaucoma,Chronic Primary Open Angle Glaucoma,Glaucoma, Compensated,Glaucoma, Compensative,Glaucoma, Open Angle,Glaucoma, Primary Open Angle,Glaucoma, Secondary Open Angle,Primary Open Angle Glaucoma,Secondary Open Angle Glaucoma,Compensated Glaucoma,Compensative Glaucoma,Open Angle Glaucoma,Open Angle Glaucomas,Open-Angle Glaucomas,Pigmentary Glaucoma,Simple Glaucoma,Simplex, Glaucoma,Simplices, Glaucoma

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