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BRIEF COMMUNICATION
Year : 2016  |  Volume : 64  |  Issue : 11  |  Page : 850-852

Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2


Shri Bhagwan Mahavir Vitreoretinal Services, Chennai, Tamil Nadu, India

Date of Submission04-Jul-2016
Date of Acceptance11-Oct-2016
Date of Web Publication13-Dec-2016

Correspondence Address:
Pukhraj Rishi
Sankara Nethralaya, 18 College Road, Chennai - 600 006, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0301-4738.195609

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  Abstract 

Neurofibromatosis type 2 (NF-2) is characterized by multifocal proliferation of neural crest-derived cells. The characteristics finding of NF-2 is bilateral vestibular schwannomas. Combined hamartoma of retina and retinal epithelium (CHRRPE) is another associated finding. A 9 year-old-male child presented with left eye decreased vision for 3 months. Visual acuity was 0.0 and 0.8 LogMAR in the right and left eye, respectively. Left fundus showed an elevated, pigmented lesion with surface wrinkling and vascular tortuosity suggestive of CHRRPE with multiple presumed retinal astrocytic proliferations in mid-periphery. He had multiple café-au-lait spots. Optical coherence tomography confirmed clinical findings. Magnetic resonance imaging brain showed bilateral acoustic neuroma. Recognition of this rare finding as presenting feature of NF-2 can lead to earlier diagnosis which is vital to appropriate surveillance and possible surgical intervention. It is recommended that children with CHRRPE be screened for NF-2.

Keywords: Combined hamartoma of retina and retinal pigment epithelium, eye tumor, neurofibromatosis type 2, retinal astrocytic proliferation


How to cite this article:
Rishi P, Hirawat RS, Verma A. Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2. Indian J Ophthalmol 2016;64:850-2

How to cite this URL:
Rishi P, Hirawat RS, Verma A. Association of bilateral, multiple presumed retinal astrocytic proliferations with combined hamartoma of retina and retinal pigment epithelium in a 9-year-old male child with neurofibromatosis type 2. Indian J Ophthalmol [serial online] 2016 [cited 2017 Sep 19];64:850-2. Available from: http://www.ijo.in/text.asp?2016/64/11/850/195609

To report an unusual case of combined hamartoma of retina and retinal pigment epithelium (CHRRPE), bilateral multiple presumed retinal astrocytic proliferations (MPRAP) in a 9-year-old male child with neurofibromatosis type 2 (NF-2).[1],[2],[3] NF-2 is characterized by multifocal proliferation of neural crest-derived cells. The characteristic finding of NF-2 is a bilateral vestibular schwannoma. CHRRPE is another associated finding. Association of bilateral MPRAP with NF-2 has not been described before.


  Case Report Top


A 9-year-old male child presented with decreased vision in the left eye of 3 months duration. Visual acuity was 0.0 and 0.8 LogMAR in the right and left eye, respectively. General examination revealed multiple cafe-au-lait skin spots over the back and arms [Figure 1]. Fundus examination revealed bilateral MPRAP and CHRRPE in the left eye [Figure 2] and [Figure 3]. Suspecting NF-2, neuroimaging was done; magnetic resonance imaging revealed bilateral acoustic neuroma [Figure 4]. Optical coherence tomography (OCT) showed vitreoretinal traction in both eyes and disorganized inner retinal structures in the left eye [Figure 5]. Fundus fluorescein angiography of MPRAP showed central hypofluorescence (blocked fluorescence) with surrounding hyperfluorescence (staining) [Figure 6].
Figure 1: Systemic examination revealed multiple café-au-lait spots over skin

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Figure 2: Left eye fundus showed elevated, pigmented macular lesion with surface wrinkling and vascular tortuosity suggestive of combined hamartoma of retina and retinal epithelium. Both eye fundi showed multiple presumed retinal astrocytic proliferations (arrows)

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Figure 3: Presumed retinal astrocytic proliferation (circle) in superonasal quadrant of right eye (a), and closer view of combined hamartoma of retina and retinal epithelium in left eye (b)

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Figure 4: Bilateral acoustic neuroma on magnetic resonance imaging (arrows)

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Figure 5: Optical coherence tomography showed vitreoretinal traction in both eyes (arrows) and disorganized inner retinal structures in the left eye

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Figure 6: Fundus fluorescein angiography showed central hypofluorescence (blocked fluorescence) with surrounding hyperfluorescence (staining)

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  Discussion Top


Presumed solitary circumscribed retinal astrocytic proliferation is a recently described entity that occurs in middle-aged to older patients.[4] It appears as a small, solitary, well-defined opaque lesion confined to the retina. It is not associated with subretinal fluid, exudation, or feeder vessel. Our case exhibits the defined clinical characteristics but manifests with multiple lesions bilaterally in a 9-year-old boy, associated with CHRRPE that we describe as MPRAP. OCT scan through the presumed retinal astrocytic proliferation in the right eye showed characteristics of retinal astrocytic hamartoma (RAH) type II, as described by Pichi et al.[5] Neuroimaging revealed bilateral acoustic neuroma suggestive of NF-2. Hence, it is possible to have multiple retinal astrocytic proliferations in a case of NF-2.

The differential diagnosis of a well-circumscribed yellow-white lesion of the retina includes RAH, acquired retinal astrocytoma, retinoblastoma, retinocytoma, myelinated retinal nerve fibers, granuloma, reactive gliosis, unifocal helioid choroiditis (solitary idiopathic choroiditis), and solitary circumscribed retinal astrocytic proliferation.[6],[7],[8]

RAH is typically diagnosed early in life and often associated with tuberous sclerosis. In such cases, lesions are often multiple or bilateral. Our patient did not have any of the stigmata of tuberous sclerosis but presented with cafe-au-lait spots, CHRRPE, and neuroimaging revealed bilateral acoustic neuroma - all suggestive of NF-2. Acquired retinal astrocytomas tend to be progressive and may be associated with exudation. These lesions may correspond to astrocytomas of central nervous system. In our case, lesions lack exudation. Retinocytomas appear as gray translucent tumors with intralesional calcification, surrounding retinal pigment epithelium alterations, and intralesional cysts.[8] Our case had smaller lesions than what is typically seen with retinocytoma and did not have the characteristic features of that lesion. Unifocal helioid choroiditis (solitary idiopathic choroiditis) also presents with a yellow-white circumscribed lesion in the posterior pole. The active phase may present with overlying neurosensory detachment and occasional vitreous cell. A discrete yellow-white choroidal lesion is hallmark of inactive phase. Our case differs because of its location within retina, rather than choroid.

In summary, our patient has multiple bilateral circumscribed astrocytic proliferations. These lesions are well-circumscribed, opaque intraretinal lesions without exudation or feeding vessels. These differ from other white or yellow-white lesions of the retina in important ways that enable the clinician to appropriately image the patient for possible features of NF-2. Hence, recognition of this rare finding as presenting feature of NF-2 can lead to earlier diagnosis which is vital to appropriate surveillance and possible surgical intervention. It is recommended that children with CHRRPE/MPRAP be screened for NF-2.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.

 
  References Top

1.
Schachat AP, Shields JA, Fine SL, Sanborn GE, Weingeist TA, Valenzuela RE, et al. Combined hamartomas of the retina and retinal pigment epithelium. Ophthalmology 1984;91:1609-15.  Back to cited text no. 1
    
2.
Shields CL, Thangappan A, Hartzell K, Valente P, Pirondini C, Shields JA. Combined hamartoma of the retina and retinal pigment epithelium in 77 consecutive patients visual outcome based on macular versus extramacular tumor location. Ophthalmology 2008;115:2246-52.e3.  Back to cited text no. 2
    
3.
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.  Back to cited text no. 3
    
4.
Shields JA, Bianciotto CG, Kivela T, Shields CL. Presumed solitary circumscribed retinal astrocytic proliferation. Arch Ophthalmol 2011;129:1189-94.  Back to cited text no. 4
    
5.
Pichi F, Massaro D, Serafino M, Carrai P, Giuliari GP, Shields CL, et al. Retinal astrocytic hamartoma: Optical coherence tomography classification and correlation with tuberous sclerosis complex. Retina 2016;36:1199-208.  Back to cited text no. 5
    
6.
Kimoto K, Kishi D, Kono H, Ikewaki J, Shinoda K, Nakatsuka K. Diagnosis of an isolated retinal astrocytic hamartoma aided by optical coherence tomography. Acta Ophthalmol 2008;86:921-2.  Back to cited text no. 6
    
7.
Vilaplana D, Castilla M, Poposki V, Alameda F, Shields CL. Acquired retinal astrocytoma managed with endoresection. Retina 2006;26:1081-2.  Back to cited text no. 7
    
8.
Abouzeid H, Balmer A, Moulin AP, Mataftsi A, Zografos L, Munier FL. Phenotypic variability of retinocytomas: Preregression and postregression growth patterns. Br J Ophthalmol 2012;96:884-9.  Back to cited text no. 8
    


    Figures

  [Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]



 

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