1040-5488/15/924S-0S67/0 VOL. 92, NO. 4S, PP. S67YS75 OPTOMETRY AND VISION SCIENCE Copyright * 2015 American Academy of Optometry
CLINICAL CASE
Optic Disc Drusen Associated with Optic Nerve Tumors Kyoung Min Lee*, Jeong-Min Hwang†, and Se Joon Woo†
ABSTRACT Purpose. To propose a theory based on clinical observation, namely, whether axonal distress induced by optic nerve tumors could be a triggering factor for optic disc drusen (ODD) formation. Case Reports. A 28-year-old woman with ODD and optic disc melanocytoma, a 53-year-old woman with ODD and optic nerve meningioma, and a 29-year-old woman with ODD and optic nerve glioma underwent comprehensive ophthalmologic examinations including spectral-domain optical coherence tomography, swept-source optical coherence tomography, visual field tests, color vision tests, and complete neurologic examinations including brain magnetic resonance imaging. In two cases, unilateral ODD existed on the same side of optic nerve tumors. In the bilateral case, the nerve that contained the tumor had ODD that were located more deeply and on both nasal and temporal sides of the optic nerve compared with the contralateral eye. In two cases, optic disc edema (ODE) was also present, and ODD persisted after ODE resolved. Conclusions. Optic nerve tumors can trigger the formation of ODD, which suggests that ODD pathogenesis involves axonal flow distress in the optic nerve. The presence of asymmetric ODD and ODE may indicate the presence of an optic nerve tumor. (Optom Vis Sci 2015;92:S67YS75) Key Words: optic disc drusen, optic disc melanocytoma, optic nerve meningioma, optic nerve glioma, optical coherence tomography
O
ptic disc drusen (ODD) are laminated hyaline bodies within the optic disc. Mitochondrial calcification is often found in ODD, suggesting axonal death as an etiology.1 Previously, only superficial ODD could be diagnosed on the basis of clinical observation, hyperreflectance on ultrasonography, or fundus autofluorescence studies using special filters.1,2 These techniques are not very accurate for diagnosing buried ODD, which are located deep within nerves. Recent advances in spectral-domain (SD) and swept-source (SS) optical coherence tomography (OCT) have enabled the detection of even the buried form of ODD.3Y11 Moreover, OCT studies showed that some types of buried ODD did not have distinct calcified borders and were difficult to diagnose using conventional modalities for detecting calcification.6,10 The characteristic features of ODD on OCT include highly reflective borders, a circular shape, and location above the terminal portion of the retinal pigment epithelium (RPE). The internal irregular reflectance of ODD
allows clear distinction from the surrounding retinal tissues and even within an edematous optic nerve head, resulting in characteristic boot-shaped borders.6 On fundus photography, most ODD appear as C-shaped pinkish masses along the nasal border of the optic disc.10 Our previous study demonstrated a small optic disc as a risk factor for ODD, indicating that axonal distress can be a triggering factor.10 Therefore, tumors involving the optic nerve can lead to similar compressive axonal distress and the subsequent development of ODD. In this situation, differentiating ODD from optic disc edema (ODE) is very important because ODE can represent the activity of current tumors involving the optic nerve tract. Here, we present three cases of comorbid buried ODD and optic nerve tumors with the associated images obtained using SDOCT (Spectralis; Heidelberg Engineering, Germany) and SSOCT (DRI-OCT; Topcon, Japan).
CASE SERIES *MD † MD, PhD Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea (all authors).
Case 1 A 28-year-old woman was referred to our clinic with left optic disc abnormalities. Her best-corrected visual acuity (BCVA) was 20/20
Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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S68 Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
OU, with refractive errors of j1.75 Dsph 0 j0.75 Dcyl 155A OD and j2.25 Dsph 0 j1.75 Dcyl 175A OS. Funduscopic examination revealed an inferonasal, papillary, hyperpigmented mass and pseudoedema in the left eye (Fig. 1A). Swept-source OCT images showed an ill-defined mass under the retinal nerve fiber layer (RNFL; Fig. 1D, E; yellow arrowheads) that corresponded with the inferonasal hyperpigmented lesion observed clinically. Superiorly, there was a hyperreflective oval lesion with boot-shaped borders located above the RPE, suggestive of buried ODD (Fig. 1E, white arrowheads). Tumor infiltration resulted in an increased RNFL
thickness in the inferonasal sector (Fig. 2A, arrow). The disc diameters were measured using the in-built caliper tool of the Spectralis OCT. The funduscopic disc diameter was measured using infrared disc images obtained using SD-OCT, calculated as the average of the horizontal and vertical diameters. The diameter of the Bruch’s membrane opening (BMO) was measured as the average of the horizontal and vertical diameters on corresponding B-scan images.6,10 The funduscopic disc diameters were 1618 Km OD and 1400 Km OS, whereas the BMO diameters were 1670 Km OD and 1753 Km OS. The ODD height, as measured from the RPE,
FIGURE 1. Case 1. Optic disc images of a patient with an optic disc melanocytoma in the left eye. (A) A fundus photograph of the affected eye. (B) A preinjection fluorescein angiography image of the affected eye. The yellow arrow lines indicate the region scanned by optical coherence tomography (OCT) (lowercase letters). (C) A fundus photograph of the contralateral eye. (D, E) Swept-source OCT images of the affected eye. The yellow arrowheads indicate the optic disc melanocytoma, and the white arrowheads indicate surrounding buried optic disc drusen (ODD). The infiltrating tumor is hyperreflective, suggesting high melanin content. The surrounding hyperreflective mass is a typical ODD with a boot-shaped border. Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
was 517 Km OS. Color vision tests (the Hardy, Rand, and Ritter [HRR] and Ishihara pseudoisochromatic plates)12 yielded normal results in both eyes. Humphrey visual field (HVF) testing revealed an enlarged blind spot in the left eye (Fig. 2C). The patient was diagnosed as having optic disc melanocytoma and ODD without ODE in the left eye. She is being followed up with regular ophthalmic examinations without any treatment.
Case 2 A 53-year-old woman presented with a complaint of metamorphopsia in her left eye for 1 year. Her BCVA was 20/20 OD and 20/25 OS, with refractive errors of þ0.25 Dsph 0 j1.5 Dcyl 90A OD and j1.5 Dsph 0 j0.5 Dcyl 90A OS. Funduscopic examination confirmed ODE in the left eye (Fig. 3A to C), whereas SD-OCT showed hyperreflective ODD (Fig. 3E, white arrowheads) and ODE in the left eye (Fig. 4A) but no ODD or ODE in the right eye (Fig. 4B). The funduscopic disc diameters were 2047 Km OD and 1777 Km OS, and the BMO diameters were 1734 Km OD and 1888 Km OS. The ODD height was 574 Km OS. Color vision test (HRR and Ishihara plates) results were normal in the right eye, whereas a mild tritan color vision defect was detected in the left eye.
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Humphrey visual field testing revealed superior field defects in the left eye (Fig. 4C). Brain magnetic resonance imaging (MRI) demonstrated a meningioma extending from the sphenoid process along the left optic nerve (Fig. 4E, F, yellow arrows). The patient was treated by curative radiation therapy.
Case 3 A 29-year-old woman presented with a complaint of headache and decreased vision in her left eye for 1 month. Her BCVA was 20/20 OD and 20/50 OS, with refractive errors of j2.75 Dsph 0 j0.25 Dcyl 70A OD and þ0.25 Dsph 0 þ0.50 Dcyl 85A OS. Funduscopic examination revealed ODE in the left eye (Fig. 5A), whereas SD-OCT showed ODD in both eyes (Fig. 5D, F, white arrowheads) and ODE in the left eye (Fig. 6A). The results of color vision tests (HRR and Ishihara plates) were normal in the right eye; however, the left eye exhibited severe red-green and tritan deficits. In addition, HVF testing identified a central scotoma and inferotemporal field defects in the left eye (Fig. 6C). Brain MRI showed a diffuse enhancing lesion in the left optic nerve, consistent with a glioma (Fig. 6E, yellow arrow). The patient declined radiation therapy and was followed up with regular brain MRI examinations. Two years later, her BCVA was 20/40 OS and the
FIGURE 2. Circumpapillary retinal nerve fiber layer (RNFL) thickness and Humphrey visual field (HVF) test results for case 1. (A) RNFL thickness profiles of the affected eye show increased thickness of the inferonasal disc owing to tumor infiltration. (B) RNFL thickness profiles of the right eye are unremarkable. (C) HVF testing of the affected eye reveals an enlarged blind spot. (D) HVF testing of the right eye shows no visual field defect. Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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S70 Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
disc edema had resolved (Fig. 6A, arrow), although residual ODD were found on SD-OCT (Fig. 5E, white arrowheads) with a bilateral and asymmetric presentation. The ODD in the left eye were located deeper than those in the right eye and were present nasal as well as temporal to the optic disc, whereas those in the right eye were located
above the RPE and did not extend temporal to the disc. The funduscopic disc diameters were 1361 Km OD and 1517 Km OS, whereas the BMO diameters were 1677 Km OD and 1580 Km OS. The ODD height, as measured from the RPE, was 410 Km OD and 403 Km OS. The red-green color vision defect had subsided to a
FIGURE 3. Case 2. Optic disc images of a patient with an optic nerve sheath meningioma in the left eye. (A) A fundus photograph of the affected eye. (B) A preinjection fluorescein angiography image of the affected eye. The yellow arrow lines indicate the region scanned by OCT (lowercase letters). (C) A late-phase fundus fluorescein angiography image of the affected eye. Late staining indicates the presence of optic disc edema (ODE). (D) A fundus photograph of the contralateral right eye. (E, F) Spectral domain OCT (SD-OCT) images of the affected eye. The white arrowheads indicate buried ODD. Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
moderate severity. The left optic nerve glioma (Fig. 6F; arrow) and the visual field defects persisted.
DISCUSSION Buried ODD were found in association with optic nerve tumors, namely, optic disc melanocytoma, optic nerve sheath
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meningioma, and optic nerve glioma. The pathogenesis of ODD is not yet understood, although it may involve axonal distress secondary to a small optic disc.1,6,10 Because the axonal distress caused by optic nerve tumors may be more severe than that caused by a small optic nerve, the ODD that develop in each scenario differ. Previously, the presence of superficial ODD could be confirmed by simple clinical visualization, hyperreflectance of
FIGURE 4. Circumpapillary RNFL thickness, HVF test results, and brain magnetic resonance imaging (MRI) findings for case 2. (A) RNFL thickness profiles of the affected eye show ODE. (B) RNFL profiles of the right eye are unremarkable. (C) HVF testing of the affected left eye shows superior field defects. (D) HVF testing of the right eye shows no visual field defect. (E, F) Brain MRI shows that the meningioma originates at the sphenoid process and propagates along the optic nerve sheath (yellow arrows). Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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FIGURE 5. Case 3. Optic disc images of a patient with an optic nerve glioma in the left eye. (A) A fundus photograph of the affected eye at the initial presentation. (B) A fundus photograph of the affected eye obtained 2 years after the initial presentation. (C) A fundus photograph of the contralateral right eye. (D) An SD-OCT image of the affected eye at the initial presentation. The white arrowheads indicate buried ODD. (E) An SD-OCT image of the affected eye obtained 2 years after the initial presentation. The white arrowheads indicate buried ODD. (F) An SD-OCT image of the right eye. The white arrowheads indicate buried ODD. Note that ODD in the right eye exist only on the nasal side and above the retinal pigment epithelial layer. Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
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FIGURE 6. Circumpapillary RNFL thickness, HVF test results, and brain MRI finding for case 3. (A) RNFL thickness profiles of the affected eye at the initial presentation (top) and 2 years later (bottom). The RNFL thickness has returned to a within-normal range after 2 years (arrow). (B) RNFL thickness profiles of the right eye at initial presentation (top) and 2 years later (bottom). (C) HVF testing of the affected eye shows a central scotoma and inferior defects. (D) HVF testing of the right eye shows no visual field defects. (E, F) Brain MRI images obtained at the initial presentation and 2 years later show no differences. The yellow arrows indicate the optic nerve glioma. Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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S74 Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
their calcified borders on B-scan ultrasonography, or fundus autofluorescence studies.1,2 However, buried ODD are difficult to detect using conventional methods in the absence of distinct calcified borders, and recent advances in OCT technology have enabled their detection.6,9,10 We previously demonstrated a small disc diameter as a risk factor for this type of ODD, which suggests axonal distress as an etiology,6,10 and this was supported by the finding that ODD could result in hemorrhagic complications.10,13 The coexistence of ODD and optic nerve tumors supported the axonal distress theory for ODD formation. In cases 1 and 2, ODD were only present in the eye associated with an optic nerve tumor. In case 3, ODD were present in both eyes, and their distribution and morphology were asymmetric and atypical of ODD found in nerves without tumors. These findings indicate different pathogenic processes. In case 1, the optic disc melanocytoma replaced the tissue under the RNFL on the inferonasal side of the disc, and buried ODD were observed around the infiltrating tumor. In cases 2 and 3, the optic nerve sheath meningioma and optic nerve glioma, respectively, compressed the retrolaminar nerve, resulting in ODE. Furthermore, the location of buried ODD in these two cases with retrolaminar masses was not typical of their location in cases associated with small optic discs, where they are usually located in the nasal portion of the discs.6,10,13 In cases 2 and 3, ODD were observed to involve both the nasal and temporal portions of the disc, suggesting a different mechanism of formation. Optic disc edema is reportedly a complication of optic disc melanocytoma, optic nerve sheath meningioma, and optic nerve glioma.14Y16 Comorbid ODD and an optic nerve tumor has been reported in a case of meningioma and a case of chiasmal glioma with KlippelTrenaunay syndrome.17,18 However, to the best of our knowledge, this is the first study reporting the OCT findings of ODD combined with optic nerve tumors, where SD-OCT and SS-OCT enabled the detection of buried ODD that would otherwise remain undetected because of the lack of calcification.10 Intrapapillary refractile bodies have been found in cases of optic nerve sheath meningiomas,15 and these were interpreted as a nonspecific sign of chronic ODE.15 We suspect that some of these refractile bodies may actually have been undiagnosed ODD. This study has some limitations. First, we could not deduce the causal relationship in our study. We did not perform SD-OCT evaluations of all patients who presented with optic nerve tumors at our institution; therefore, the comorbid presentation of ODD and optic nerve tumors described here may be coincidental. However, considering the low prevalence of ODD in the normal population, it is less likely that the ODD were an incidental finding and more likely that a pathogenic association exists between ODD and optic nerve tumors. Future research including a larger number of patients with optic nerve tumors is necessary to determine the existence of a definite association. Second, we did not perform other diagnostic tests such as ultrasonography or fundus autofluorescence studies.2 Although ultrasonography or fundus autofluorescence studies may be helpful in confirming the diagnosis of ODD, the findings on OCT and fundus photography6,10 were characteristic enough to confirm the diagnosis of buried ODD in our cases.3Y5,8,9 Furthermore, the OCT images indicated minimal calcification of ODD, which would have decreased the reliability of ultrasonography for their detection.10
In conclusion, ODD may develop in eyes associated with optic nerve tumors and ODE. SD and SS-OCT images can be useful for identifying buried ODD in patients with optic nerve tumors and ODE and evaluating their pathologic interactions.
ACKNOWLEDGMENTS This study was partly supported by the Joint Research Project, Korea Research Council of Fundamental Science and Technology, Korea. Kyoung Min Lee and Jeong-Min Hwang equally contributed to the work and therefore should be considered co-first authors. The authors have no proprietary interest in this article or any disclosure to declare. Received May 19, 2014; accepted January 22, 2015.
REFERENCES 1. Auw-Haedrich C, Staubach F, Witschel H. Optic disk drusen. Surv Ophthalmol 2002;47:515Y32. 2. Kurz-Levin MM, Landau K. A comparison of imaging techniques for diagnosing drusen of the optic nerve head. Arch Ophthalmol 1999;117:1045Y9. 3. Yi K, Mujat M, Sun W, Burnes D, Latina MA, Lin DT, Deschler DG, Rubin PA, Park BH, de Boer JF, Chen TC. Imaging of optic nerve head drusen: improvements with spectral domain optical coherence tomography. J Glaucoma 2009;18:373Y8. 4. Murthy RK, Storm L, Grover S, Brar VS, Chalam KV. In-vivo high resolution imaging of optic nerve head drusen using spectral-domain Optical Coherence Tomography. BMC Med Imaging 2010;10:11. 5. Patel NN, Shulman JP, Chin KJ, Finger PT. Optical coherence tomography/scanning laser ophthalmoscopy imaging of optic nerve head drusen. Ophthalmic Surg Lasers Imaging 2010;41:614Y21. 6. Lee KM, Woo SJ, Hwang JM. Differentiation of optic nerve head drusen and optic disc edema with spectral-domain optical coherence tomography. Ophthalmology 2011;118:971Y7. 7. Sarac O, Tasci YY, Gurdal C, Can I. Differentiation of optic disc edema from optic nerve head drusen with spectral-domain optical coherence tomography. J Neuroophthalmol 2012;32:207Y11. 8. Slotnick S, Sherman J. Buried disc drusen have hypo-reflective appearance on SD-OCT. Optom Vis Sci 2012;89:704Y8. 9. Slotnick S, Sherman J. Disc drusen. Ophthalmology 2012;119:652. 10. Lee KM, Woo SJ, Hwang JM. Morphologic characteristics of optic nerve head drusen on spectral-domain optical coherence tomography. Am J Ophthalmol 2013;155:1139Y47. 11. Silverman AL, Tatham AJ, Medeiros FA, Weinreb RN. Assessment of optic nerve head drusen using enhanced depth imaging and swept source optical coherence tomography. J Neuroophthalmol 2014;34:198Y205. 12. Huna-Baron R, Glovinsky Y, Habot-Wilner Z. Comparison between Hardy-Rand-Rittler 4th edition and Ishihara color plate tests for detection of dyschromatopsia in optic neuropathy. Graefes Arch Clin Exp Ophthalmol 2013;251:585Y9. 13. Lee KM, Hwang JM, Woo SJ. Hemorrhagic complications of optic nerve head drusen on spectral domain optical coherence tomography. Retina 2014;34:1142Y8. 14. Shields JA, Demirci H, Mashayekhi A, Eagle RC, Jr., Shields CL. Melanocytoma of the optic disk: a review. Surv Ophthalmol 2006;51:93Y104. 15. Sibony PA, Kennerdell JS, Slamovits TL, Lessell S, Krauss HR. Intrapapillary refractile bodies in optic nerve sheath meningioma. Arch Ophthalmol 1985;103:383Y5.
Optometry and Vision Science, Vol. 92, No. 4S, April 2015
Copyright © American Academy of Optometry. Unauthorized reproduction of this article is prohibited.
Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al. 16. Liu GT, Katowitz JA, Rorke-Adams LB, Fisher MJ. Optic pathway gliomas: neoplasms, not hamartomas. JAMA Ophthalmol 2013; 131:646Y50. 17. Ben-Zur PH, Lieberman TW. Drusen of the optic nerves and meningioma: a case report. Mt Sinai J Med 1972;39:188Y96. 18. Bothun ED, Kao T, Guo Y, Christiansen SP. Bilateral optic nerve drusen and gliomas in Klippel-Trenaunay syndrome. J AAPOS 2011;15:77Y9.
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Se Joon Woo Department of Ophthalmology Seoul National University Bundang Hospital 166 Gumiro, Bundang-gu Seongnam, Gyeonggi-do 463-707 Korea e-mail: [email protected]
Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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CLINICAL CASE
Optic Disc Drusen Associated with Optic Nerve Tumors Kyoung Min Lee*, Jeong-Min Hwang†, and Se Joon Woo†
ABSTRACT Purpose. To propose a theory based on clinical observation, namely, whether axonal distress induced by optic nerve tumors could be a triggering factor for optic disc drusen (ODD) formation. Case Reports. A 28-year-old woman with ODD and optic disc melanocytoma, a 53-year-old woman with ODD and optic nerve meningioma, and a 29-year-old woman with ODD and optic nerve glioma underwent comprehensive ophthalmologic examinations including spectral-domain optical coherence tomography, swept-source optical coherence tomography, visual field tests, color vision tests, and complete neurologic examinations including brain magnetic resonance imaging. In two cases, unilateral ODD existed on the same side of optic nerve tumors. In the bilateral case, the nerve that contained the tumor had ODD that were located more deeply and on both nasal and temporal sides of the optic nerve compared with the contralateral eye. In two cases, optic disc edema (ODE) was also present, and ODD persisted after ODE resolved. Conclusions. Optic nerve tumors can trigger the formation of ODD, which suggests that ODD pathogenesis involves axonal flow distress in the optic nerve. The presence of asymmetric ODD and ODE may indicate the presence of an optic nerve tumor. (Optom Vis Sci 2015;92:S67YS75) Key Words: optic disc drusen, optic disc melanocytoma, optic nerve meningioma, optic nerve glioma, optical coherence tomography
O
ptic disc drusen (ODD) are laminated hyaline bodies within the optic disc. Mitochondrial calcification is often found in ODD, suggesting axonal death as an etiology.1 Previously, only superficial ODD could be diagnosed on the basis of clinical observation, hyperreflectance on ultrasonography, or fundus autofluorescence studies using special filters.1,2 These techniques are not very accurate for diagnosing buried ODD, which are located deep within nerves. Recent advances in spectral-domain (SD) and swept-source (SS) optical coherence tomography (OCT) have enabled the detection of even the buried form of ODD.3Y11 Moreover, OCT studies showed that some types of buried ODD did not have distinct calcified borders and were difficult to diagnose using conventional modalities for detecting calcification.6,10 The characteristic features of ODD on OCT include highly reflective borders, a circular shape, and location above the terminal portion of the retinal pigment epithelium (RPE). The internal irregular reflectance of ODD
allows clear distinction from the surrounding retinal tissues and even within an edematous optic nerve head, resulting in characteristic boot-shaped borders.6 On fundus photography, most ODD appear as C-shaped pinkish masses along the nasal border of the optic disc.10 Our previous study demonstrated a small optic disc as a risk factor for ODD, indicating that axonal distress can be a triggering factor.10 Therefore, tumors involving the optic nerve can lead to similar compressive axonal distress and the subsequent development of ODD. In this situation, differentiating ODD from optic disc edema (ODE) is very important because ODE can represent the activity of current tumors involving the optic nerve tract. Here, we present three cases of comorbid buried ODD and optic nerve tumors with the associated images obtained using SDOCT (Spectralis; Heidelberg Engineering, Germany) and SSOCT (DRI-OCT; Topcon, Japan).
CASE SERIES *MD † MD, PhD Department of Ophthalmology, Seoul National University College of Medicine, Seoul National University Bundang Hospital, Seongnam, Korea (all authors).
Case 1 A 28-year-old woman was referred to our clinic with left optic disc abnormalities. Her best-corrected visual acuity (BCVA) was 20/20
Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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S68 Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
OU, with refractive errors of j1.75 Dsph 0 j0.75 Dcyl 155A OD and j2.25 Dsph 0 j1.75 Dcyl 175A OS. Funduscopic examination revealed an inferonasal, papillary, hyperpigmented mass and pseudoedema in the left eye (Fig. 1A). Swept-source OCT images showed an ill-defined mass under the retinal nerve fiber layer (RNFL; Fig. 1D, E; yellow arrowheads) that corresponded with the inferonasal hyperpigmented lesion observed clinically. Superiorly, there was a hyperreflective oval lesion with boot-shaped borders located above the RPE, suggestive of buried ODD (Fig. 1E, white arrowheads). Tumor infiltration resulted in an increased RNFL
thickness in the inferonasal sector (Fig. 2A, arrow). The disc diameters were measured using the in-built caliper tool of the Spectralis OCT. The funduscopic disc diameter was measured using infrared disc images obtained using SD-OCT, calculated as the average of the horizontal and vertical diameters. The diameter of the Bruch’s membrane opening (BMO) was measured as the average of the horizontal and vertical diameters on corresponding B-scan images.6,10 The funduscopic disc diameters were 1618 Km OD and 1400 Km OS, whereas the BMO diameters were 1670 Km OD and 1753 Km OS. The ODD height, as measured from the RPE,
FIGURE 1. Case 1. Optic disc images of a patient with an optic disc melanocytoma in the left eye. (A) A fundus photograph of the affected eye. (B) A preinjection fluorescein angiography image of the affected eye. The yellow arrow lines indicate the region scanned by optical coherence tomography (OCT) (lowercase letters). (C) A fundus photograph of the contralateral eye. (D, E) Swept-source OCT images of the affected eye. The yellow arrowheads indicate the optic disc melanocytoma, and the white arrowheads indicate surrounding buried optic disc drusen (ODD). The infiltrating tumor is hyperreflective, suggesting high melanin content. The surrounding hyperreflective mass is a typical ODD with a boot-shaped border. Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
was 517 Km OS. Color vision tests (the Hardy, Rand, and Ritter [HRR] and Ishihara pseudoisochromatic plates)12 yielded normal results in both eyes. Humphrey visual field (HVF) testing revealed an enlarged blind spot in the left eye (Fig. 2C). The patient was diagnosed as having optic disc melanocytoma and ODD without ODE in the left eye. She is being followed up with regular ophthalmic examinations without any treatment.
Case 2 A 53-year-old woman presented with a complaint of metamorphopsia in her left eye for 1 year. Her BCVA was 20/20 OD and 20/25 OS, with refractive errors of þ0.25 Dsph 0 j1.5 Dcyl 90A OD and j1.5 Dsph 0 j0.5 Dcyl 90A OS. Funduscopic examination confirmed ODE in the left eye (Fig. 3A to C), whereas SD-OCT showed hyperreflective ODD (Fig. 3E, white arrowheads) and ODE in the left eye (Fig. 4A) but no ODD or ODE in the right eye (Fig. 4B). The funduscopic disc diameters were 2047 Km OD and 1777 Km OS, and the BMO diameters were 1734 Km OD and 1888 Km OS. The ODD height was 574 Km OS. Color vision test (HRR and Ishihara plates) results were normal in the right eye, whereas a mild tritan color vision defect was detected in the left eye.
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Humphrey visual field testing revealed superior field defects in the left eye (Fig. 4C). Brain magnetic resonance imaging (MRI) demonstrated a meningioma extending from the sphenoid process along the left optic nerve (Fig. 4E, F, yellow arrows). The patient was treated by curative radiation therapy.
Case 3 A 29-year-old woman presented with a complaint of headache and decreased vision in her left eye for 1 month. Her BCVA was 20/20 OD and 20/50 OS, with refractive errors of j2.75 Dsph 0 j0.25 Dcyl 70A OD and þ0.25 Dsph 0 þ0.50 Dcyl 85A OS. Funduscopic examination revealed ODE in the left eye (Fig. 5A), whereas SD-OCT showed ODD in both eyes (Fig. 5D, F, white arrowheads) and ODE in the left eye (Fig. 6A). The results of color vision tests (HRR and Ishihara plates) were normal in the right eye; however, the left eye exhibited severe red-green and tritan deficits. In addition, HVF testing identified a central scotoma and inferotemporal field defects in the left eye (Fig. 6C). Brain MRI showed a diffuse enhancing lesion in the left optic nerve, consistent with a glioma (Fig. 6E, yellow arrow). The patient declined radiation therapy and was followed up with regular brain MRI examinations. Two years later, her BCVA was 20/40 OS and the
FIGURE 2. Circumpapillary retinal nerve fiber layer (RNFL) thickness and Humphrey visual field (HVF) test results for case 1. (A) RNFL thickness profiles of the affected eye show increased thickness of the inferonasal disc owing to tumor infiltration. (B) RNFL thickness profiles of the right eye are unremarkable. (C) HVF testing of the affected eye reveals an enlarged blind spot. (D) HVF testing of the right eye shows no visual field defect. Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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S70 Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
disc edema had resolved (Fig. 6A, arrow), although residual ODD were found on SD-OCT (Fig. 5E, white arrowheads) with a bilateral and asymmetric presentation. The ODD in the left eye were located deeper than those in the right eye and were present nasal as well as temporal to the optic disc, whereas those in the right eye were located
above the RPE and did not extend temporal to the disc. The funduscopic disc diameters were 1361 Km OD and 1517 Km OS, whereas the BMO diameters were 1677 Km OD and 1580 Km OS. The ODD height, as measured from the RPE, was 410 Km OD and 403 Km OS. The red-green color vision defect had subsided to a
FIGURE 3. Case 2. Optic disc images of a patient with an optic nerve sheath meningioma in the left eye. (A) A fundus photograph of the affected eye. (B) A preinjection fluorescein angiography image of the affected eye. The yellow arrow lines indicate the region scanned by OCT (lowercase letters). (C) A late-phase fundus fluorescein angiography image of the affected eye. Late staining indicates the presence of optic disc edema (ODE). (D) A fundus photograph of the contralateral right eye. (E, F) Spectral domain OCT (SD-OCT) images of the affected eye. The white arrowheads indicate buried ODD. Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
moderate severity. The left optic nerve glioma (Fig. 6F; arrow) and the visual field defects persisted.
DISCUSSION Buried ODD were found in association with optic nerve tumors, namely, optic disc melanocytoma, optic nerve sheath
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meningioma, and optic nerve glioma. The pathogenesis of ODD is not yet understood, although it may involve axonal distress secondary to a small optic disc.1,6,10 Because the axonal distress caused by optic nerve tumors may be more severe than that caused by a small optic nerve, the ODD that develop in each scenario differ. Previously, the presence of superficial ODD could be confirmed by simple clinical visualization, hyperreflectance of
FIGURE 4. Circumpapillary RNFL thickness, HVF test results, and brain magnetic resonance imaging (MRI) findings for case 2. (A) RNFL thickness profiles of the affected eye show ODE. (B) RNFL profiles of the right eye are unremarkable. (C) HVF testing of the affected left eye shows superior field defects. (D) HVF testing of the right eye shows no visual field defect. (E, F) Brain MRI shows that the meningioma originates at the sphenoid process and propagates along the optic nerve sheath (yellow arrows). Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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S72 Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
FIGURE 5. Case 3. Optic disc images of a patient with an optic nerve glioma in the left eye. (A) A fundus photograph of the affected eye at the initial presentation. (B) A fundus photograph of the affected eye obtained 2 years after the initial presentation. (C) A fundus photograph of the contralateral right eye. (D) An SD-OCT image of the affected eye at the initial presentation. The white arrowheads indicate buried ODD. (E) An SD-OCT image of the affected eye obtained 2 years after the initial presentation. The white arrowheads indicate buried ODD. (F) An SD-OCT image of the right eye. The white arrowheads indicate buried ODD. Note that ODD in the right eye exist only on the nasal side and above the retinal pigment epithelial layer. Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
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FIGURE 6. Circumpapillary RNFL thickness, HVF test results, and brain MRI finding for case 3. (A) RNFL thickness profiles of the affected eye at the initial presentation (top) and 2 years later (bottom). The RNFL thickness has returned to a within-normal range after 2 years (arrow). (B) RNFL thickness profiles of the right eye at initial presentation (top) and 2 years later (bottom). (C) HVF testing of the affected eye shows a central scotoma and inferior defects. (D) HVF testing of the right eye shows no visual field defects. (E, F) Brain MRI images obtained at the initial presentation and 2 years later show no differences. The yellow arrows indicate the optic nerve glioma. Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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S74 Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al.
their calcified borders on B-scan ultrasonography, or fundus autofluorescence studies.1,2 However, buried ODD are difficult to detect using conventional methods in the absence of distinct calcified borders, and recent advances in OCT technology have enabled their detection.6,9,10 We previously demonstrated a small disc diameter as a risk factor for this type of ODD, which suggests axonal distress as an etiology,6,10 and this was supported by the finding that ODD could result in hemorrhagic complications.10,13 The coexistence of ODD and optic nerve tumors supported the axonal distress theory for ODD formation. In cases 1 and 2, ODD were only present in the eye associated with an optic nerve tumor. In case 3, ODD were present in both eyes, and their distribution and morphology were asymmetric and atypical of ODD found in nerves without tumors. These findings indicate different pathogenic processes. In case 1, the optic disc melanocytoma replaced the tissue under the RNFL on the inferonasal side of the disc, and buried ODD were observed around the infiltrating tumor. In cases 2 and 3, the optic nerve sheath meningioma and optic nerve glioma, respectively, compressed the retrolaminar nerve, resulting in ODE. Furthermore, the location of buried ODD in these two cases with retrolaminar masses was not typical of their location in cases associated with small optic discs, where they are usually located in the nasal portion of the discs.6,10,13 In cases 2 and 3, ODD were observed to involve both the nasal and temporal portions of the disc, suggesting a different mechanism of formation. Optic disc edema is reportedly a complication of optic disc melanocytoma, optic nerve sheath meningioma, and optic nerve glioma.14Y16 Comorbid ODD and an optic nerve tumor has been reported in a case of meningioma and a case of chiasmal glioma with KlippelTrenaunay syndrome.17,18 However, to the best of our knowledge, this is the first study reporting the OCT findings of ODD combined with optic nerve tumors, where SD-OCT and SS-OCT enabled the detection of buried ODD that would otherwise remain undetected because of the lack of calcification.10 Intrapapillary refractile bodies have been found in cases of optic nerve sheath meningiomas,15 and these were interpreted as a nonspecific sign of chronic ODE.15 We suspect that some of these refractile bodies may actually have been undiagnosed ODD. This study has some limitations. First, we could not deduce the causal relationship in our study. We did not perform SD-OCT evaluations of all patients who presented with optic nerve tumors at our institution; therefore, the comorbid presentation of ODD and optic nerve tumors described here may be coincidental. However, considering the low prevalence of ODD in the normal population, it is less likely that the ODD were an incidental finding and more likely that a pathogenic association exists between ODD and optic nerve tumors. Future research including a larger number of patients with optic nerve tumors is necessary to determine the existence of a definite association. Second, we did not perform other diagnostic tests such as ultrasonography or fundus autofluorescence studies.2 Although ultrasonography or fundus autofluorescence studies may be helpful in confirming the diagnosis of ODD, the findings on OCT and fundus photography6,10 were characteristic enough to confirm the diagnosis of buried ODD in our cases.3Y5,8,9 Furthermore, the OCT images indicated minimal calcification of ODD, which would have decreased the reliability of ultrasonography for their detection.10
In conclusion, ODD may develop in eyes associated with optic nerve tumors and ODE. SD and SS-OCT images can be useful for identifying buried ODD in patients with optic nerve tumors and ODE and evaluating their pathologic interactions.
ACKNOWLEDGMENTS This study was partly supported by the Joint Research Project, Korea Research Council of Fundamental Science and Technology, Korea. Kyoung Min Lee and Jeong-Min Hwang equally contributed to the work and therefore should be considered co-first authors. The authors have no proprietary interest in this article or any disclosure to declare. Received May 19, 2014; accepted January 22, 2015.
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Optic Disc Drusen Associated with Optic Nerve TumorsVLee et al. 16. Liu GT, Katowitz JA, Rorke-Adams LB, Fisher MJ. Optic pathway gliomas: neoplasms, not hamartomas. JAMA Ophthalmol 2013; 131:646Y50. 17. Ben-Zur PH, Lieberman TW. Drusen of the optic nerves and meningioma: a case report. Mt Sinai J Med 1972;39:188Y96. 18. Bothun ED, Kao T, Guo Y, Christiansen SP. Bilateral optic nerve drusen and gliomas in Klippel-Trenaunay syndrome. J AAPOS 2011;15:77Y9.
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Se Joon Woo Department of Ophthalmology Seoul National University Bundang Hospital 166 Gumiro, Bundang-gu Seongnam, Gyeonggi-do 463-707 Korea e-mail: [email protected]
Optometry and Vision Science, Vol. 92, No. 4S, April 2015
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