Elsevier

Ophthalmology

Volume 108, Issue 9, September 2001, Pages 1595-1602
Ophthalmology

Disc excavation in dominant optic atrophy: Differentiation from normal tension glaucoma

https://doi.org/10.1016/S0161-6420(01)00696-0Get rights and content

Abstract

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.

Design

Noncomparative, observational case series.

Participants

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.

Main outcome measures

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.

Section snippets

Materials and methods

All of the patients included in the study had a diagnosis of DOA, were evaluated from the practice of one neuro-ophthalmologist at the Duke University Eye Center between 1987 and 1996, and had bilateral optic disc photographs available (the latter were obtained in a nonstandardized fashion). The diagnosis of DOA was based on a history of gradual, bilateral loss of vision beginning at an early age; reduced visual acuity; central, cecocentral, or paracentral scotomas; optic disc pallor; and a

Results

Nine patients were included in the study. Clinical findings are summarized in Table 1, and a detailed case report of one representative patient is provided below. Five of the patients were male (55%). The mean age of the studied patients at the time of our examination was 28 ± 19 years (range, 11–62 years). According to the recollection of patients or their relatives, the age at onset of symptoms ranged from age 5 to the early 20s. Eight patients were white and one was Asian American. None of

Case report

A 16-year-old Asian American boy (RC) reported a mild bilateral decrease in vision that had slowly progressed since age 7 years. At age 10 years, he was diagnosed as having NTG and was started on timolol 0.5% in both eyes. A visual evoked response and magnetic resonance imaging scan of the orbits and chiasm were normal. His past medical history was unremarkable. A paternal great grandfather had lost vision in both eyes, the cause of which was unknown.

On examination, visual acuity was 20/30 in

Discussion

Our review of the clinical findings and optic disc photographs of patients with DOA revealed significant optic disc cupping (cup-to-disc ratio, >0.5) in at least one eye in 89% of patients examined. Other nonglaucomatous conditions associated with optic disc excavation include optic nerve anomalies (coloboma, pits, oblique insertion), arteritic anterior ischemic optic neuropathy,14 methanol toxicity,15 and possibly luetic optic neuropathy. Additional disorders in which cupping may occur (but is

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