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Case Reports
. 2022 Nov 22:11:1361.
doi: 10.12688/f1000research.127871.1. eCollection 2022.

Case Report: Reversal and subsequent return of optic disc cupping in a myocilin (MYOC) gene-associated severe Juvenile Open-Angle Glaucoma (JOAG) patient

Hani El Helwe  1   2 , Sandy Samuel  1   2 , Sanchay Gupta  1   2 , Cameron Neeson  1 , Marika Chachanidze  1 , David A Solá-Del Valle  1
Affiliations
Case Reports

Case Report: Reversal and subsequent return of optic disc cupping in a myocilin (MYOC) gene-associated severe Juvenile Open-Angle Glaucoma (JOAG) patient

Hani El Helwe et al. F1000Res. .

Abstract

To our knowledge, this case report describes the first instance of reversal of glaucomatous optic nerve cupping in a young adult with a rare form of juvenile open-angle glaucoma (JOAG) associated with a novel variant of the myocilin gene (MYOC). This 25-year-old woman with severe-stage MYOC-associated JOAG presented with blurry vision and intermittent pain in her left eye. She had a strong family history of glaucoma in multiple first-degree relatives with an identified novel variant of MYOC. Examination revealed intraocular pressures (IOPs) of 10 mmHg OD and 46 mmHg OS, with cup-to-disc ratios of 0.90 and 0.80. The patient experienced substantial reversal of optic disc cupping OS following dramatic IOP reduction with trabeculectomy, and subsequently experienced a return of cupping after an IOP spike 15 months postoperatively. The reversal of cupping did not correspond to any changes in the patient's visual field. After an initial decrease in retinal nerve fiber layer (RNFL) thickness, RNFL remained stable for over 2 years after trabeculectomy as seen on Optical Coherence Tomography (OCT). This case suggests reversal of cupping can occur well into adulthood in a MYOC-associated JOAG patient, and it demonstrates the potential bidirectionality of this phenomenon. Moreover, it suggests that these structural changes may not correspond to any functional changes in visual fields or RNFL thickness.

Keywords: Juvenile open-angle glaucoma; Myocilin gene; Reversal of optic nerve head cupping; glaucoma filtration surgery.

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Conflict of interest statement

Competing interests: Dr. David Solá-Del Valle receives Allergan (an AbbVie company) XEN Gel Stent lecture fees.

Figures

Figure 1.
Figure 1.. Optic nerve head photo, Humphrey Visual Field (HVF), and Optical Coherence Tomography (OCT) in February 2018 for both eyes.
a. Optic nerve head OD (2/16/2018). b. Optic nerve head OS (2/16/2018). c. OCT ONH and RNFL Analysis OU (2/13/2018). d. HVF OD (2/13/2018). e. HVF OS (2/13/2018).
Figure 1.
Figure 1.. Optic nerve head photo, Humphrey Visual Field (HVF), and Optical Coherence Tomography (OCT) in February 2018 for both eyes.
a. Optic nerve head OD (2/16/2018). b. Optic nerve head OS (2/16/2018). c. OCT ONH and RNFL Analysis OU (2/13/2018). d. HVF OD (2/13/2018). e. HVF OS (2/13/2018).
Figure 2.
Figure 2.. Optical Coherence Tomography (OCT) OS for Macula Thickness in April 2018 (4/3/2018).
Figure 3.
Figure 3.. Optic nerve head photo OS and Optical Coherence Tomography (OCT) in October 2018 for both eyes.
a. Optic nerve head OS (10/11/2018). b. OCT ONH and RNFL Analysis OU (10/11/2018).
Figure 4.
Figure 4.. Optic nerve head photo OS in May 2019 OS (5/23/2019) demonstrating return of optic nerve cupping.
Figure 5.
Figure 5.. Optic nerve head photo, Humphrey Visual Field (HVF), and Optical Coherence Tomography (OCT) in November 2019.
a. Optic nerve head OS (11/14/2019). b. OCT ONH and RNFL Analysis OU (11/14/2019). c. HVF OS (11/14/2019).
Figure 6.
Figure 6.. Optical Coherence Tomography (OCT) ONH and RNFL Analysis for both eyes in June 2020 (6/23/2020).
See this image and copyright information in PMC

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