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 Table of Contents  
CASE REPORT
Year : 2020  |  Volume : 58  |  Issue : 1  |  Page : 46-48

Microphthalmia with pseudogliomatosis proliferation in the retina and orbital cyst


1 Orbit, Oculoplasty, Reconstructive and Aesthetic Services, Sankara Nethralaya, Chennai, Tamil Nadu, India
2 Consultant Ophthalmologist, Eye-Q Super Specialty Eye Hospital, Bharuch, Gujrat, India
3 Department of Ophthalmic Pathology, Medical Research Foundation, Chennai, Tamil Nadu, India

Date of Submission10-Aug-2019
Date of Decision24-Oct-2019
Date of Acceptance10-Dec-2019
Date of Web Publication04-Mar-2020

Correspondence Address:
Dr. Bipasha Mukherjee
Medical Research Foundation, Sankara Netralaya, 18 College Road, Chennai - 600 006, Tamil Nadu
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/tjosr.tjosr_70_19

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  Abstract 


A 28-year-old systemically healthy male presented with a history of decreased vision in the right eye and a blind, undersized left eye since birth. On evaluation, the patient had typical inferonasal iris coloboma and retinochoroidal coloboma in the right eye and left disorganized microphthalmic globe with colobomatous cyst and contracted socket. The patient underwent left eye injection of 0.25 ml ethanolamine oleate injected into the cyst after aspiration of the cyst contents. The patient had persistent colobomatous cyst, for which he underwent left eye excision of the microphthalmic globe with orbital cyst. Histopathological examination revealed thickened cyst wall, multiple nodules of dysplastic retinal tissues without proper lamination and extensive surrounding fibrosis, deposition of eosinophilic material around the blood vessels and retina, and multiple foci of calcification without atypia and mitosis. The diagnosis of a unilateral microphthalmic phthisical eye with pseudogliomatosis proliferation in the retina and in the orbital cyst was made.

Keywords: Colobomatous cyst, microphthalmia, pseudogliomatosis proliferation


How to cite this article:
Mukherjee B, Sankadasariya D, Bhadiyadara K, Krishnakumar S. Microphthalmia with pseudogliomatosis proliferation in the retina and orbital cyst. TNOA J Ophthalmic Sci Res 2020;58:46-8

How to cite this URL:
Mukherjee B, Sankadasariya D, Bhadiyadara K, Krishnakumar S. Microphthalmia with pseudogliomatosis proliferation in the retina and orbital cyst. TNOA J Ophthalmic Sci Res [serial online] 2020 [cited 2020 Jun 1];58:46-8. Available from: http://www.tnoajosr.com/text.asp?2020/58/1/46/280006




  Introduction Top


Microphthalmia with orbital cyst is a rare congenital anomaly caused by failure of closure of optic fissure.[1] These patients typically present with a microphthalmic eye with an orbital cyst situated inferior to the globe.[2] They may rarely be associated with gliomatous proliferation. The cysts are lined by neuroepithelium continuous with the vitreous cavity. Microphthalmia with a cyst is usually unilateral. They can be sporadic in origin but may also be associated with systemic anomalies. We herein present a patient with microphthalmia and colobomatous cyst with pseudogliomatosis proliferans.


  Case Report Top


A 28-year-old healthy male presented to us with a history of decreased vision in the right eye and a blind, undersized left eye since birth. According to the patient, his parents were healthy with no history of any congenital malformations in their families, and there was no evidence of consanguinity. On examination, the best-corrected visual acuity was 20/60, and there were J1 (Jaeger) in the right eye and nil light perception in the left eye. The patient had left-sided facial hypoplasia. His right eye showed a microcornea, inferonasal typical iris coloboma, tilted optic disc, Ida Mann Type 3 inferonasal typical retinochoroidal coloboma, and normal intraocular pressure. The left eye showed a microphthalmic globe with an inferiorly located orbital cyst and a contracted socket. The fundus of the left eye was not visible. Systemic examination was normal. Ultrasonography of the left orbit revealed a disorganized globe with grossly reduced axial length, ocular coat calcification, and anterior orbital colobomatous cyst with heterogenous reflectivity inside the cyst [Figure 1]. Prosthesis fitting was not possible in the left socket.
Figure 1: Ultrasonogram of the left globe showing a disorganized globe, ocular coat calcification, and a colobomatous cyst with heterogeneous reflectivity inside the cyst

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The patient underwent left eye aspiration of the cyst contents followed by transconjunctival injection of 0.25 ml ethanolamine oleate. However, the orbital cyst persisted with inability to fit prosthesis in the left socket. Computerized tomography (CT) scan of the orbit revealed a rudimentary left globe displaced superotemporally and a lobulated isodense colobomatous cyst with specks of calcification seen within the cyst [Figure 2].
Figure 2: Computerized tomogram showing a rudimentary left globe displaced superotemporally with a lobulated isodense lesion filling the orbit with specks of calcification within

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The patient underwent left eye excision of the microphthalmic globe along with the orbital cyst measuring 24 mm anteroposteriorly, 22 mm horizontally, and 18 mm vertically. Histopathological examination revealed thickened cyst wall, multiple nodules of dysplastic retinal tissues without proper lamination and extensive surrounding fibrosis, multiple dilated thickened blood vessels, deposition of eosinophilic material around the blood vessels and retina, multiple pseudorosettes, suggestive of dysplastic retinal tissue, bone formation by the retinal pigment epithelial cells, and multiple foci of calcification. The eyeball specimen consisted of necrotic intraocular contents with possible bone formation and phthisical changes. There was no atypia or mitotic activity [Figure 3].
Figure 3: Microphotograph showing glial tissue proliferation (long arrows) with blood vessels (asterisk) and focal areas of calcification (short arrows). Pseudorosettes (inset) are seen within the retinal glial tissue (H and E; ×200)

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The diagnosis of a microphthalmic phthisical eye with pseudogliomatosis proliferation in the retina and in the orbital cyst was made.


  Discussion Top


Microphthalmia and coloboma with orbital cyst are rare congenital anomalies arising during 6th–7th week of gestation due to defects in closure of embryonic fissure and invagination of optic vesicle, resulting in the varied clinical presentation of microphthalmia with cyst.[1],[2] The orbit volume is usually reduced due to microphthalmia. The mechanism of cyst formation is poorly understood. It is postulated to result from prolapse of intraocular contents through a scleral defect. Another explanation is that microphthalmia with cyst represents ectasia of the colobomatous globe.[3],[4] The diagnosis is usually made during the first few days of life. This condition is usually isolated and can be either unilateral or bilateral.[1]

Association with systemic anomalies may occur. Sporadic cases may be associated with the Goldenhar, CHARGE, or VATER syndrome.[4] It may also be due to teratogenic agents, maternal ingestion of drugs, infection, fever, or irradiation. In these cases, possibility of abnormal neural crest cell development has been suggested.[4]

Neuroepithelial elements such as astrocytes, oligodendroglia, and microglia are present in the retina. The neuroglia of the brain and retina is well-known to be able to proliferate under the influence of irritants. Glial reaction is a characteristic feature in the eyes marked by chronic inflammation.[5]

Thus, congenital pseudogliomatous proliferation in the presence of a coloboma can cause propagation of the tissue through the fissure with formation of cysts in the orbit. Progressive enlargement of the cyst may be seen due to extensive proliferation of glial tissue, eventually filling and expanding the cyst cavity.[6]

The diagnosis is based on oculo-orbital B-mode ultrasound and CT and/or magnetic resonance imaging scan to assess the state of the eyeball and the orbit. CT scan is better modality to demonstrate the eyeball and the cyst walls, as well as any communication between the two.[4],[7]

Orbitopalpebral cysts are usually associated with a deformed globe with poor visual prognosis. Small colobomatous cysts will be respected, with regular monitoring. Unsightly bulky cysts may be excised with repair of the orbital cavity.[4] Cosmetic rehabilitation often requires excision or aspiration of the cyst to allow space for prosthesis. Aspiration of the cyst is often preferred over surgical cyst excision which often leaves behind a contracted socket as unwanted sequelae to surgery. However, simple cyst aspiration is frequently associated with recurrences. Recurrence can be avoided using a sclerosing agent such as ethanolamine oleate.[8] Surgical options include placement of orbital implants of fixed dimensions at one or more surgeries or use of a dermis–fat graft which has the capability of postsurgical growth [Figure 4].[9],[10]
Figure 4: Clinical photograph of the patient with prosthetic shell in the left eye

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Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has his consent for his images and other clinical information to be reported in the journal. The patient understand that his name and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Decock CE, Breusegem CM, van Aken EH, Leroy BP, van Den Broecke CM, Delanghe JR. High beta-trace protein concentration in the fluid of an orbital cyst associated with bilateral colobomatous microphthalmos. Br J Ophthalmol 2007;91:836.  Back to cited text no. 1
    
2.
Agrawal PK, Kumar H. Microphthalmos with cyst: A clinical study. Indian J Ophthalmol 1993;41:177-9.  Back to cited text no. 2
[PUBMED]  [Full text]  
3.
Onwochei BC, Simon JW, Bateman JB, Couture KC, Mir E. Ocular colobomata. Surv Ophthalmol 2000;45:175-94.  Back to cited text no. 3
    
4.
Warburg M. Update of sporadic microphthalmos and coloboma. Non-inherited anomalies. Ophthalmic Paediatr Genet 1992;13:111-22.  Back to cited text no. 4
    
5.
Jensen OA. Microphthalmia with associated pseudogliomatosis of the retina and pseudogliomatous orbital cyst. Acta Ophthalmol (Copenh) 1965;43:240-4.  Back to cited text no. 5
    
6.
Nowinski T, Shields JA, Augsburger JJ, DeVenuto JJ Jr. Exophthalmos secondary to massive intraocular gliosis in a patient with a colobomatous cyst. Am J Ophthalmol 1984;97:641-3.  Back to cited text no. 6
    
7.
Polito E, Leccisotti A, Lasorella G, Venturi C, Bardelli AM. Colobomatous ocular cyst presenting as an orbital tumor. Orbit 1992;11:147-51.  Back to cited text no. 7
    
8.
Naik MN, Honavar SG, Murthy RK, Raizada K, Thomas R. Ethanolamine oleate sclerotherapy versus simple cyst aspiration in the management of orbitopalpebral cyst associated with congenital microphthalmos. Ophthalmic Plast Reconstr Surg 2007;23:307-11.  Back to cited text no. 8
    
9.
Bardakjian T, Weiss A, Schneider A. Microphthalmia/Anophthalmia/Coloboma Spectrum. 2004 Jan 29 [Updated 2015 Jul 9]. In: Adam MP, Ardinger HH, Pagon RA, editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2019.  Back to cited text no. 9
    
10.
Schittkowski MP, Gundlach KK, Guthoff RF. Treatment of congenital clinical anophthalmos with high hydrophilic hydrogel expanders. Ophthalmologe 2003;100:525-34.  Back to cited text no. 10
    


    Figures

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



 

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