EJO ISSN 1120-6721
Eur J Ophthalmol 2015; 00 (00): 000-000 DOI: 10.5301/ejo.5000640
CASE REPORT
Correlation of spectral-domain optical coherence tomography with fundus fluorescein angiography in an infant with retinal hamartomas Lavanya Chidambara, Chaitra Jayadev, Shwetha Mangalesh, Munusamy Sivakumar, Bhujang Shetty, Anand Vinekar From the Narayana Nethralaya Postgraduate Institute of Ophthalmology, Bangalore - India
ABSTRACT Purpose: To describe the correlation between the surface morphology on spectral-domain optical coherence tomography (SD-OCT) and leakage pattern on fundus fluorescein angiography (FFA) in an infant with multiple retinal hamartomas. Methods: An Asian Indian female infant was found to have 2 retinal lesions in the right eye and 1 in the left eye during Retcam (Clarity MSI, CA, USA) screening for retinopathy of prematurity at 45 weeks postmenstrual age. Spectral-domain optical coherence tomography on the hand-held OCT (Envisu 2300, Bioptigen, NC, USA) and FFA on the Retcam 3 were performed under monitoring in the office. Results: Spectral-domain OCT detected all 3 lesions but only 1 lesion was detected on FFA. While this lesion had an irregular surface with overlying vitreoretinal (VR) traction on SD-OCT, the other 2 lesions not detected on FFA were smooth and had no VR traction. After a follow-up to 18 months corrected age, there was no change in the morphology of any of the lesions. Conclusions: It is possible to characterize retinal hamartomas in infants using SD-OCT and correlate them with FFA. Spectral-domain OCT examination can be used to diagnose and monitor lesions even if they are not detectable on angiography. Keywords: Fluorescein angiography, Optical coherence tomography, Retinal hamartoma, Tuberous sclerosis
Introduction Retinal hamartomas are uncommon retinal lesions that have been described in infants and children, occurring sporadically (1) or associated with tuberous sclerosis (2). These lesions may be solitary or multiple and are vascular, glistening, smooth, transparent, or semitranslucent, present with or without calcifications (2, 3). Besides clinical examination, spectral-domain optical coherence tomography (SD-OCT) and fundus fluorescein angiography (FFA) have been used to characterize these lesions
Accepted: May 22, 2015 Published online: June 12, 2015 Corresponding author: Anand Vinekar, MD, FRCS Program Director, KIDROP Head of Department, Pediatric Retina Narayana Nethralaya Postgraduate Institute of Ophthalmology #121/C Chord Road 1st ‘R’ Block Rajajinagar Bangalore 560 010, India
[email protected]
© 2015 Wichtig Publishing
and to differentiate them from other lesions. However, a correlation between the surface morphology on SD-OCT and leakage pattern on FFA has not been described. Case report An Asian Indian girl born with a birthweight of 1800 grams at 29 weeks of gestation presented late for retinopathy of prematurity (ROP) screening at 45 weeks postmenstrual age. The infant, with a history of neonatal jaundice and seizures, had been intubated for respiratory distress elsewhere prior to referral to us. The child’s twin sibling had died of an unknown etiology during the perinatal period. Retcam (Clarity MSI, Pleasanton, CA, USA) examination showed a mature retina with no evidence of ROP. However, 2 retinal lesions in the right eye and one in the left eye were observed. Lesion 1 (Fig. 1) was a horizontally oval, yellowish lesion approximately 4 × 3 mm in size along the inferotemporal arcade of the right eye. Clinically, the retina overlying the lesion was glistening and smooth. The edges were distinct with minimal pigmentary changes encircling the lesion. Lesion 2 (Fig. 2), approximately 1 disc diameter in size, was seen in the superonasal quadrant of the right eye. This lesion was less distinct, rounder, smaller, more gray-white, dull, smooth, and less transparent than the first lesion. Lesion 3 (Fig. 3) in the left eye was approximately 1.5 disc diameter in size in the
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Fig. 1 - The right eye inferior lesion (white oval) shows diffuse hyperfluorescence on angiography (top right) and an irregular surface with overlying vitreoretinal traction on spectral-domain optical coherence tomography (below).
SD-OCT and FFA correlation in an infant with retinal hamartomas
Fig. 3 - The left eye lesion (white oval) did not show any leakage on angiography (top right) and demonstrated a smooth contour and absent vitreoretinal traction on spectral-domain optical coherence tomography (below).
hypopigmented skin lesions (ash leaf spots), a cardiac rhabdomyoma in the right ventricle with arrhythmia, and abnormal electroencephalogram results revealing multifocal interictal epileptiform anomalies over the frontal, posterior, and left temporal areas. A magnetic resonance image scan of the brain showed subependymal nodules and subcortical tubers, confirming a clinical diagnosis of tuberous sclerosis. The child was followed up every 3 months and completed 18 months of follow-up with no change in the contour, size, or morphology of any of the lesions.
Discussion Fig. 2 - The right superonasal quadrant lesion (white oval) did not show any leakage on angiography (top right) and demonstrated a smooth contour, with hyperreflective epiretinal thickening and absent vitreoretinal traction on spectral-domain optical coherence tomography (below).
inferior quadrant, whiter, smooth, less transparent, and more defined than lesion 2. Spectral-domain OCT on the handheld OCT (Envisu 2300, Bioptigen, Morrisville, NC, USA) was used to image all 3 lesions. While FFA on the Retcam 3 performed in the office could detect lesion 1 (Fig. 1, top right), the other 2 lesions (Figs. 2 and 3, top right) were undetectable. The correlation of the SD-OCT findings with the FFA is summarized in Table I. The main difference between the lesions was the appearance and contour of the superficial layer (surface topography). Whereas the lesion that leaked the dye had an irregular surface with overlying vitreoretinal (VR) traction (Fig. 1, below), the other 2 lesions, which were not observed on FFA, were smooth (Figs. 2 and 3, below) and had no VR traction. This was despite the presence of an epiretinal thickening overlying lesion 2 (Fig. 2, below). This prompted a diagnosis of multiple hamartomas and the child was investigated systemically. Truncal and axillary
Tuberous sclerosis or Bourneville disease is a systemic disorder characterized by hamartomas in multiple organs including the eye (2). Nearly 50% of patients with tuberous sclerosis present with unilateral or bilateral retinal astrocytic hamartomas (2). These lesions are benign and variably affect the retinal vasculature and the overlying vitreous (1, 3-5). Shields et al (5) have described the OCT findings of 11 patients with retinal hamartomas. All cases demonstrated retinal disorganization with thickening; while 9 cases showed retinal striae and preretinal membranes, 3 cases showing vitreoretinal traction. These findings corroborated with the SD-OCT findings of retinal thickening and disorganization reported by Vinekar et al (1). The interesting surface morphology of the 3 lesions in this case and their correlation with FFA allows better understanding of the characteristics of these hamartomas. Although these lesions have a significant vascular component, only one (lesion 1) was detected on FFA. We hypothesize that this is due to the irregular superficial surface (inner retinal contour), which was jagged and elevated by the overlying VR traction in lesion 1. It is possible that the superficial vessels seen in these lesions (6) leak dye into the vitreous cavity after being exposed through a jagged surface. This hypothesis is strengthened with the observation that the other 2 lesions had smooth contours, no surface erosion, and no VR traction © 2015 Wichtig Publishing
Chidambara et al
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TABLE I - Comparison of spectral-domain optical coherence tomography and fundus fluoroscein angiography findings of the hamartomas Spectral-domain optical coherence tomography
Fundus fluorescein angiography
Lesion 1 (right eye)
The lesion is a raised, fusiform mass involving the inner retinal layers. There is a high and homogeneous reflectivity throughout. At the summit of the lesion, the retina appears elevated due to the overlying vitreoretinal traction. The surface of the lesion is irregular along the sloping edges. There is back shadow of the lesion obscuring the underlying outer retinal layers.
Early diffuse hyperfluorescence increasing in intensity in the late phase.
Lesion 2 (right eye)
The lesion is a smooth, fusiform mass involving the inner retinal layers. The outer plexiform layer is visible and is uninvolved. There appears to be a thin epiretinal reflectivity overlying the lesion with no potential space between the mass and the membrane. There is no vitreoretinal traction at the summit.
The lesion was not detected.
Lesion 3 (left eye)
The lesion is smooth and fusiform and involves the inner retinal layers. The outer plexiform layer is uninvolved and visible. There is no epiretinal membrane overlying the lesion and the surface is smooth and sloping. There is no vitreoretinal traction overlying the lesion.
The lesion was not detected.
and hence no potential space between the lesion and vitreous cavity. To our knowledge, this is the earliest report (45 weeks) of multiple retinal hamartomas, which have been characterized on SD-OCT and correlated on FFA. Although the child completed 18 months of review, long-term follow-up will be required to determine if the smooth lesions progress into the jagged variety by either enlarging in size or secondary to the changes in the VR interface or a combination of both factors. It is also possible that these slow growing lesions may remain the same and not show any interchangeable features. The case highlights the importance of SD-OCT examination, a noninvasive imaging tool that can be used to diagnose and monitor clinically undetectable or very small lesions despite not being imaged on angiography. The interaction between surface topography and the VR traction that we report needs future histopathologic correlation.
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Disclosures Financial support: No financial support was received for this submission. Conflict of interest: None of the authors has conflict of interest with this submission.
© 2015 Wichtig Publishing
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Vinekar A, Quiram P, Sund N, Wilson J, Capone A Jr. Plasminassisted vitrectomy for bilateral combined hamartoma of the retina and retinal pigment epithelium: histopathology, immunohistochemistry, and optical coherence tomography. Retin Cases Brief Rep. 2009;3:186-9. Mennel S, Meyer CH, Peter S, Schmidt JC, Kroll P. Current treatment modalities for exudative retinal hamartomas secondary to tuberous sclerosis: review of the literature. Acta Ophthalmol Scand. 2007;85:127-32. Gass JDM. Combined pigment epithelial and retinal hamartoma. In: Gass JDM, ed. Stereoscopic Atlas of Macular Diseases: Diagnosis and Treatment. Vol. 2. 4th ed. St. Louis, MO: Mosby; 1997:824. Shields CL, Shields JA, Marr BP, Sperber DE, Gass JD. Congenital simple hamartoma of the retinal pigment epithelium: a study of five cases. Ophthalmology. 2003;110:1005-11. Shields CL, Mashayekhi A, Dai VV, Materin MA, Shields JA. Optical coherence tomographic findings of combined hamartoma of the retina and retinal pigment epithelium in 11 patients. Arch Ophthalmol. 2005;123:1746-50. Gündüz K, Eagle RC Jr, Shields CL, Shields JA, Augsburger JJ. Invasive giant cell astrocytoma of the retina in a patient with tuberous sclerosis. Ophthalmology. 1999;106:639-42.
