Ophthalmic Surgery, Lasers and Imaging Retina

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Imaging: Case Report 

Peripheral Retinal Vascular Abnormalities in Primary Infantile Glaucoma

Thomas S. Shane, MD; Audina M. Berrocal, MD; Elizabeth A. Hodapp, MD; Alana L. Grajewski, MD; Ditte J. Hess, MD

Abstract

Two patients with primary infantile glaucoma were imaged with fluorescein angiography during an examination under anesthesia. Both patients were found to have abnormal peripheral retinal vasculature and non-perfusion. These findings may represent a previously unrecognized retinal vascular component of primary infantile glaucoma.

Abstract

Two patients with primary infantile glaucoma were imaged with fluorescein angiography during an examination under anesthesia. Both patients were found to have abnormal peripheral retinal vasculature and non-perfusion. These findings may represent a previously unrecognized retinal vascular component of primary infantile glaucoma.

Peripheral Retinal Vascular Abnormalities in Primary Infantile Glaucoma

From Bascom Palmer Eye Institute, Miami, Florida.

The Bascom Palmer Eye Institute is supported by an unrestricted grant from Research to Prevent Blindness, Inc., New York, New York, and NIH Center Grant P30-EY014801.

The authors have no financial or proprietary interest in the materials presented herein.

Address correspondence to Thomas S. Shane, MD, 900 N.W. 17th Street, Miami, FL 33136. E-mail: tshane@med.miami.edu

Received: May 11, 2011
Accepted: October 28, 2011
Posted Online: December 21, 2011

Introduction

Primary infantile glaucoma likely results from abnormal neural crest cell migration and maturation in fetal anterior segment and angle structures.1 The exact pathogenesis of these abnormalities remains unknown. To date, little attention has been paid to the role of peripheral retinal vasculature in the pathophysiology of this disease. We describe two patients with primary infantile glaucoma and peripheral vascular abnormalities noted on fluorescein angiography (FA).

Case Report

Case 1

A 4-month-old female infant was referred to Bascom Palmer Eye Institute for evaluation of cloudy corneas, tearing, and photophobia in both eyes noted since birth. The patient had no medical or ocular history and had been born via full-term vaginal delivery without complication. Family history was notable for a mother with adult-onset primary open-angle glaucoma and a 6-year-old sibling without ocular problems. On gross examination, the patient had blepharospasm and photophobia under ambient lighting. Anterior segment examination was notable for moderate corneal edema and Haab’s striae in both eyes. The patient subsequently underwent an examination under anesthesia (EUA) revealing intraocular pressures of 46 mm Hg in the right eye and 40 mm Hg in the left eye, as well as horizontal corneal diameters of 13.5 and 13.0 mm in the right and left eyes, respectively. Ultrasound demonstrated elongated axial lengths in both eyes (24.5 mm in the right eye and 24.1 mm in the left eye) and enlarged optic cups bilaterally. A 360° trabeculotomy was then performed in both eyes. Two months later, a repeat EUA with dilated fundus examination was significant for peripheral vitreous hemorrhage in the right eye (Fig. 1). FA was subsequently performed, demonstrating bilateral peripheral retinal non-perfusion and terminal vessel anastomosis (Fig. 2). A superonasal blocking defect from vitreous hemorrhage was noted in the right eye.

Optic disc cupping consistent with primary infantile glaucoma. Superonasal vitreous hemorrhage in the right eye.

Figure 1. Optic disc cupping consistent with primary infantile glaucoma. Superonasal vitreous hemorrhage in the right eye.

Montage fluorescein angiogram images. (Left) Fluorescein angiogram of the right eye demonstrating peripheral, non-perfused retina bordered posteriorly by anastomotic vessels running parallel to the ora serrata; superonasal blocking defect caused by vitreous hemorrhage. (Right) Peripheral, non-perfused retina bordered posteriorly by vessels running parallel to the ora serrata in the left eye.

Figure 2. Montage fluorescein angiogram images. (Left) Fluorescein angiogram of the right eye demonstrating peripheral, non-perfused retina bordered posteriorly by anastomotic vessels running parallel to the ora serrata; superonasal blocking defect caused by vitreous hemorrhage. (Right) Peripheral, non-perfused retina bordered posteriorly by vessels running parallel to the ora serrata in the left eye.

Case 2

A 4-day-old male infant was referred to Bascom Palmer Eye Institute for evaluation of bilateral cloudy corneas since birth. The patient had no medical or ocular history and had been born via full-term cesarean section delivery without complication. Family history was notable for maternal and paternal grandparents with primary open-angle glaucoma. The patient subsequently underwent an EUA revealing intraocular pressures of 33 mm Hg in the right eye and 42 mm Hg in the left eye, as well as horizontal corneal diameters of 12.0 and 11.5 mm in the right and left eye, respectively. Ultrasound demonstrated elongated axial lengths in both eyes (19.8 mm in the right eye and 18.8 mm in the left eye) and enlarged optics cups bilaterally. A trabeculotomy was then performed in both eyes. The patient later underwent Baerveldt glaucoma drainage implant placement complicated by endophthalmitis and eventual phthisis in his right eye. During a subsequent EUA at the age of 5 years, the patient was noted to have retinal vascular abnormalities in his left eye (Fig. 3). FA was performed, demonstrating abnormal retinal vascular patterns with peripheral non-perfusion (Fig. 4).

Fundus photograph of the left eye with abnormal macular and peripheral vasculature.

Figure 3. Fundus photograph of the left eye with abnormal macular and peripheral vasculature.

Left eye fluorescein angiogram demonstrating abnormal central and peripheral vascular patterns with peripheral, non-perfused retina bordered posteriorly by vessels running parallel to the ora serrata.

Figure 4. Left eye fluorescein angiogram demonstrating abnormal central and peripheral vascular patterns with peripheral, non-perfused retina bordered posteriorly by vessels running parallel to the ora serrata.

Discussion

We present two patients with primary infantile glaucoma who demonstrated abnormal peripheral retinal vasculature on FA. In both patients, retinal vasculature was noted to turn parallel to the ora serrata with non-perfused retina located anteriorly. This phenomenon may represent a previously unrecognized retinal vascular component of primary infantile glaucoma. Furthermore, its phenotypic similarity to forms of familial exudative vitreoretinopathy may support arguments that the Wnt pathway is involved in the pathogenesis of primary infantile glaucoma.2–5 Further study is required to determine the frequency of retinal vascular changes in these patients and identify any clinical or genetic variables that may correlate with our findings. The results of this research could change our understanding of primary infantile glaucoma and lead to novel genetic explanations for its occurrence.

References

  1. Olitsky SE. Primary infantile glaucoma. Int Ophthalmol Clin. 2010;50:57–66. doi:10.1097/IIO.0b013e3181f0faee [CrossRef]
  2. Warden SM, Andreoli CM, Mukai S. The Wnt signaling pathway in familial exudative vitreoretinopathy and Norrie disease. Semin Ophthalmol. 2007;22:211–217. doi:10.1080/08820530701745124 [CrossRef]
  3. Shyam R, Shen X, Yue BY, Wentz-Hunter KK. Wnt gene expression in human trabecular meshwork cells. Mol Vis. 2010;16:122–129.
  4. Kwon HS, Lee HS, Ji Y, Rubin JS, Tomarev SI. Myocilin is a modulator of Wnt signaling. Mol Cell Biol. 2009;29:2139–2154. doi:10.1128/MCB.01274-08 [CrossRef]
  5. Wang WH, McNatt LG, Pang IH, et al. Increased expression of the WNT antagonist sFRP-1 in glaucoma elevates intraocular pressure. J Clin Invest. 2008;118:1056–1064.
Authors

From Bascom Palmer Eye Institute, Miami, Florida.

The Bascom Palmer Eye Institute is supported by an unrestricted grant from Research to Prevent Blindness, Inc., New York, New York, and NIH Center Grant P30-EY014801.

The authors have no financial or proprietary interest in the materials presented herein.

Address correspondence to Thomas S. Shane, MD, 900 N.W. 17th Street, Miami, FL 33136. E-mail: tshane@med.miami.edu

10.3928/15428877-20111215-01

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