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Macular Fluid in a Patient With a Reported History of Normal-Tension Glaucoma

Educational Objective
Based on this clinical scenario and the accompanying image, understand how to arrive at a correct diagnosis.
1 Credit CME

A patient with a history of normal-tension glaucoma presented with a blurred spot in the central vision of the right eye. Examination showed best-corrected visual acuity of 20/50 OD, 20/30 OS, and intraocular pressure of 13 mm Hg OU. In the right eye, dilated fundus examination and optical coherence tomography (OCT) of the macula revealed subretinal fluid and cystoid spaces within the outer nuclear layer and inner nuclear layer in the nasal macula (Figure 1). Results of the left eye fundus examination and macular OCT were normal. In both eyes, the optic cup appeared very deep with a large cup-disc ratio.

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C. OCT of the optic nerve head

The differential diagnosis of macular fluid includes choroidal neovascularization, central serous chorioretinopathy, myopic foveoschisis, optic pit maculopathy, and cystoid macular edema. In this case, the subretinal and intraretinal fluid in multiple retinal layers contiguous with the optic nerve point to the optic nerve, rather than vascular leakage, as the source of the fluid. Therefore, fluorescein angiography (choice B) and OCT-angiography of the macula (choice D), tests that detect vascular sources of fluid, are not indicated, and anti–vascular endothelial growth factor (choice A), a treatment for vascular leakage, is not appropriate.

Although optic pit maculopathy without inner retinal schisis cavity has been reported, the pattern and distribution of fluid is most consistent with optic pit maculopathy.1,2 However, clinical examination and OCT of the optic nerve revealed a very deep cup (1388 μm from the Bruch membrane opening) without a focal depression seen in optic pit (Figure 2).

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Article Information

Corresponding Author: Eileen S. Hwang, MD, PhD, Department of Ophthalmology and Visual Sciences, University of Utah, 65 Mario Capecchi Dr, Salt Lake City, UT 84132 (eileenhwang@yahoo.com).

Published Online: January 6, 2022. doi:10.1001/jamaophthalmol.2021.3326

Conflict of Interest Disclosures: Dr Hwang reports nonfinancial support from Regeneron, Beaver Vistec, Katalys, Alcon, and Bausch & Lomb. Dr Kim reports personal fees from Allergan, Adverum, Astellas, Genentech, Novartis, and Regeneron and research support from Heidelberg, Notal Vision, and Optos. No other disclosures were reported.

Meeting Presentation: This work was presented by Dr Kim at the Hawaiian Eye/Retina Meeting; January 13, 2018; Kihei, Hawaii.

Additional Contributions: We thank Marriner Altmann, CRA, OCT-C, CPT, Medical College of Wisconsin/Froedtert Eye Institute, for obtaining the images. She did not receive compensation.

References
1.
Imamura  Y , Zweifel  SA , Fujiwara  T , Freund  KB , Spaide  RF .  High-resolution optical coherence tomography findings in optic pit maculopathy.   Retina. 2010;30(7):1104-1112. doi:10.1097/IAE.0b013e3181d87ecbPubMedGoogle ScholarCrossref
2.
Moon  SJ , Kim  JE , Spaide  RF .  Optic pit maculopathy without inner retinal schisis cavity.   Retina. 2006;26(1):113-116. doi:10.1097/00006982-200601000-00023PubMedGoogle ScholarCrossref
3.
Sawada  Y , Hangai  M , Murata  K , Ishikawa  M , Yoshitomi  T .  Lamina cribrosa depth variation measured by spectral-domain optical coherence tomography within and between four glaucomatous optic disc phenotypes.   Invest Ophthalmol Vis Sci. 2015;56(10):5777-5784. doi:10.1167/iovs.14-15942PubMedGoogle ScholarCrossref
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Savell  J , Cook  JR .  Optic nerve colobomas of autosomal-dominant heredity.   Arch Ophthalmol. 1976;94(3):395-400. doi:10.1001/archopht.1976.03910030183002PubMedGoogle ScholarCrossref
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Zumbro  DS , Jampol  LM , Folk  JC , Olivier  MM , Anderson-Nelson  S .  Macular schisis and detachment associated with presumed acquired enlarged optic nerve head cups.   Am J Ophthalmol. 2007;144(1):70-74. doi:10.1016/j.ajo.2007.03.027PubMedGoogle ScholarCrossref
6.
Hazlewood  RJ , Roos  BR , Solivan-Timpe  F ,  et al.  Heterozygous triplication of upstream regulatory sequences leads to dysregulation of matrix metalloproteinase 19 in patients with cavitary optic disc anomaly.   Hum Mutat. 2015;36(3):369-378. doi:10.1002/humu.22754PubMedGoogle ScholarCrossref
7.
Hwang  ES , Morgan  DJ , Pennington  KL ,  et al.  Progressive optic nerve changes in cavitary optic disc anomaly: integration of copy number alteration and cis-expression quantitative trait loci to assess disease etiology.   BMC Med Genet. 2019;20(1):63. doi:10.1186/s12881-019-0800-4PubMedGoogle ScholarCrossref
8.
Jain  N , Johnson  MW .  Pathogenesis and treatment of maculopathy associated with cavitary optic disc anomalies.   Am J Ophthalmol. 2014;158(3):423-435. doi:10.1016/j.ajo.2014.06.001PubMedGoogle ScholarCrossref
9.
Kuhn  F , Kover  F , Szabo  I , Mester  V .  Intracranial migration of silicone oil from an eye with optic pit.   Graefes Arch Clin Exp Ophthalmol. 2006;244(10):1360-1362. doi:10.1007/s00417-006-0267-9PubMedGoogle ScholarCrossref
10.
Hirakata  A , Inoue  M , Hiraoka  T , McCuen  BW  II .  Vitrectomy without laser treatment or gas tamponade for macular detachment associated with an optic disc pit.   Ophthalmology. 2012;119(4):810-818. doi:10.1016/j.ophtha.2011.09.026PubMedGoogle ScholarCrossref
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Credit Designation Statement: The American Medical Association designates this Journal-based CME activity activity for a maximum of 1.00  AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Successful completion of this CME activity, which includes participation in the evaluation component, enables the participant to earn up to:

  • 1.00 Medical Knowledge MOC points in the American Board of Internal Medicine's (ABIM) Maintenance of Certification (MOC) program;;
  • 1.00 Self-Assessment points in the American Board of Otolaryngology – Head and Neck Surgery’s (ABOHNS) Continuing Certification program;
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