Normal-pressure glaucoma is a special form of the chronic open-angle glaucomas characterized by loss of neuroretinal rim and retinal nerve fiber layer, perimetric defects, and normal intraocular pressure measurements. Age of the patients at the time of the diagnosis is usually in the range of 40 to 50 years.1 We report an unusual occurrence of an optic neuropathy resembling normal-pressure glaucoma in a 13-year-old patient with a follow-up time of 10 years.
In 1987, at the age of 3 years, the patient was referred to us for exclusion of congenital or infantile glaucoma. During a routine ophthalmologic examination, the referring ophthalmologist had noticed an abnormally large optic cup. Visual acuity measured 12/20 OU, and repeated intraocular pressure measurements determined by applanation tonometry varied between 10 and 14 mm Hg. Horizontal and vertical corneal diameters ranged between 11.5 and 12.0 mm. Morphometric evaluation of color stereo optic disc photographs (Figure 1) showed primary macrodiscs with pseudoglaucomatous but physiologic macrocupping.2 Visual fields were not examined owing to the age of the patient.
Optic disc photographs of the right eye (left) and left eye (right) at the age of 3 years. Disc area was 5.22 mm2OD and 4.99 mm2OS (mean±SD optic disc area in 457 normal eyes: 2.69±0.70 mm2); optic cup area was 3.07 mm2OD and 2.97 mm2OS.
Ten years later, the boy complained of a shadow in his left eye. He attended high school with good to excellent performance in all subjects including sports. Repeated computerized and Goldmann perimetry revealed a deep Bjerrum scotoma in the inferior visual field of the left eye. Results of a perimetric examination of the right eye were unremarkable. Visual acuity measured 20/20 OU. Refractive error had changed from emmetropia to mild myopia (−2.5 diopters [D]). Axial length had increased from 21.3 to 25.4 mm. Relatively low keratometric readings of 40.5 D OD and 39.5 D OS with no marked astigmatism (<1.0 D) explained the relatively low myopic refractive error of −2.5 D despite the axial length of 25.4 mm. Intraocular pressure evaluated in day-and-night pressure profiles containing recordings at 5 PM, 9 PM, midnight, 7 AM, and noon ranged between 10 and 17 mm Hg with no significant difference (P>.50) between the right and left eye. Morphometric analysis of optic disc photographs showed that the optic disc shape had changed to a horizontally oval configuration (Figure 2). In the right eye, rim shape was normal with the smallest rim part in the temporal disc sector2 (Figure 2, left). A disc hemorrhage was detected in the temporal superior disc sector. In another follow-up examination after an additional 4 months, the hemorrhage had recurred at the same location. In the left eye, neuroretinal rim notching was present in the superior disc region (Figure 2, right). In both eyes, parapapillary atrophy had developed in the temporal superior quadrant. Wide-angle red-free retinal nerve fiber layer photography showed a diffusely reduced visibility of the retinal nerve fiber layer in both eyes with an additional segmental loss in the temporal superior fundus region of the left eye. Results of repeated cranial computed tomography, magnetic resonance imaging, and neurologic and pediatric examinations were unremarkable. Arterial blood pressure was normal for age. All examinations were repeated after 4 and 10 months and showed similar results, with no progression detectable in perimetry and morphometric optic disc analysis. All 4 other family members also had abnormally large optic discs.
Optic disc photographs of the right eye (left) and left eye (right) at the age of 13 years. Note hemorrhage in the right eye, β zone of parapapillary atrophy (arrowheads), and rim notching in left eye (arrows).
With completely unremarkable neuroradiologic and pediatric examination results and normal recordings of intraocular pressure in day-and-night pressure profiles, our young patient with an inherited primary macrodisc may have an unusually early-onset optic neuropathy resembling normal-pressure glaucoma. The recurring splinter-shaped optic disc hemorrhages in the right eye and neuroretinal rim notching in the left eye corresponding to a segmental defect in the retinal nerve fiber layer and a deep Bjerrum scotoma are characteristics of the focal type of normal-pressure glaucoma.1 Loss of neuroretinal rim and increase in the β zone of parapapillary atrophy, which is typical for glaucomatous optic neuropathy and which usually does not occur in nonglaucomatous optic neuropathies,3 point against a nonglaucomatous reason for optic nerve damage and visual field loss. The change in the optic disc shape, which was not paralleled by a marked increase in corneal astigmatism,4 deserves special attention, because after age 3 years a change in optic disc shape has so far been found only in eyes with progressive high myopia. One may discuss whether this change in optic disc shape, the abnormally large optic disc size, and the development of parapapillary atrophy may have resulted in mechanical stretching and tearing of the lamina cribrosa, including the microvasculature of the optic nerve head, or in other alterations, leading to focal loss of neuroretinal rim, flame-shaped optic disc hemorrhages, and deep Bjerrum scotoma in our patient with normal intraocular pressure.
This study was supported by Deutsche Forschungsgemeinschaft SFB 539.
Reprints: Jost B. Jonas, MD, Universitäts-Augenklinik, Schwabachanlage 6, 91054 Erlangen, Germany (e-mail: Jost.Jonas@augen.med.uni-erlangen.de).
Jonas JB, Cursiefen C, Budde WM. Optic Neuropathy Resembling Normal-Pressure Glaucoma in a Teenager With Congenital Macrodiscs. Arch Ophthalmol. 1998;116(10):1384-1386. doi: