Retinal Nerve Fiber Layer Defect Associated with Astrocytic Hamartoma in a Patient with Tuberous Sclerosis

Ka Hyun Lee; Naeun Lee; Chang Kyu Lee; Sa Min Hong; Gong Je Seong; Chan Yun Kim

doi:10.3341/jkos.2013.54.8.1282

Journal List > J Korean Ophthalmol Soc > v.54(8) > 1009460

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Lee, Lee, Lee, Hong, Seong, and Kim: Retinal Nerve Fiber Layer Defect Associated with Astrocytic Hamartoma in a Patient with Tuberous Sclerosis

Original Article

J Korean Ophthalmol Soc 2013;54(8):1282-1286.

Published online: 7 September 2013

DOI: https://doi.org/10.3341/jkos.2013.54.8.1282

Retinal Nerve Fiber Layer Defect Associated with Astrocytic Hamartoma in a Patient with Tuberous Sclerosis

Ka Hyun Lee, MD, Naeun Lee, MD, Chang Kyu Lee, MD, Sa Min Hong, MD, Gong Je Seong, MD, PhD, Chan Yun Kim, MD, PhD

The Institute of Vision Research, Department of Ophthalmology, Yonsei University College of Medicine, Seoul, Korea

Address reprint requests to Chan Yun Kim, MD, PhD The Institute of Vision Research, Department of Ophthalmology, Severance Hospital #50 Yonsei-ro, Seodaemun-gu, Seoul 120-752, Korea Tel: 82-2-2228-3570, Fax: 82-2-312-0541, E-mail: kcyeye@yuhs.ac

This study was supported by a grant of the Korea Health technology R&D Project, Ministry of Health & Welfare, Republic of Korea (A101727).

This study was presented as a poster at the 108th Annual Meeting of the Korean Ophthalmology Society 2012.

Received 11 January 201325 March 2013 Accepted 20 June 2013

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/3.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract

Purpose

To report the progression of an astrocytic hamartoma of the right optic nerve head as well as the retina, and the progression of retinal nerve fiber defect associated with astrocytic hamartoma in a patient with tuberous sclerosis.

Case summary

A 6-year-old boy with tuberous sclerosis and an astrocytic hamartoma of the right optic nerve head, which was found at the time of ophthalmologie examinations, was referred from the pediatric neurologist for evaluation of the vig-abatrin-associated visual field changes. Fundus examination revealed 1/2 disc diameter (DD)-sized astrocytic hamartoma located at the margin of the superior part of the optic nerve. The retina of the left eye was normal. Eighteen months after the first visit, enlarged optic disc hamartoma of the right eye and newly onset retinal astrocytic hamartoma located approx-imately 1.5 DD inferior to the fovea of the left eye were found. Three years later, an increase in the size of the astrocytic ha-martoma of the right optic nerve and development of retinal nerve fiber defects were observed.

Conclusions

Astrocytic hamartoma in patients with tuberous sclerosis is usually stable without progression. However, in our patient, astrocytic hamartoma showed progression, and development of retinal nerve fiber defects occurred. Regular follow-up is necessary for astrocytic hamartoma in patients with tuberous sclerosis.

Keywords: Astrocytic hamartoma, Retinal nerve fiber layer defect, Tuberous sclerosis

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Figure 1.

Axial T2-weighted images of MR show that subependymal nodule (black arrow head) projecting into lumen of left lateral ventricle and multiple subtle bilateral cortical and subcortical tubers (white arrow heads).

Figure 2.

Development of nerve fiber layer defect associated with astrocytic hamartoma in a patient with tuberous sclerosis. (A) Fundus photograph of the initial visit shows a 1/2 disc diameter-sized “mulberry-like” protruding tu-mor above the right optic disc and normal fellow eye. (B) One year and 6 months after the first visit, fundus photo-graph shows enlarged right optic disc hamartoma. Newly onset retinal astrocytic hamartoma (black arrow) is found on the fundus of the left eye. (C) Three years later, fundus photograph shows development of retinal nerve fiber layer defects (white arrows).

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