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LETTER TO EDITOR  
Year : 2013  |  Volume : 56  |  Issue : 1  |  Page : 64-65
Retinal dysplasia mimicking retinoblastoma


1 Department of Pathology, Christian Medical College and Hospital, Ludhiana, India
2 Department of Ophthalmology, Christian Medical College and Hospital, Ludhiana, India

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Date of Web Publication6-Aug-2013
 

How to cite this article:
Prasanna MR, Kwatra KS, Calton N, Thomas S. Retinal dysplasia mimicking retinoblastoma. Indian J Pathol Microbiol 2013;56:64-5

How to cite this URL:
Prasanna MR, Kwatra KS, Calton N, Thomas S. Retinal dysplasia mimicking retinoblastoma. Indian J Pathol Microbiol [serial online] 2013 [cited 2020 Feb 28];56:64-5. Available from: http://www.ijpmonline.org/text.asp?2013/56/1/64/116156


Sir,

Retinoblastoma is the most common malignant ocular tumor of childhood and is uniformly fatal if untreated. Several conditions can mimic retinoblastoma clinically due to the presence of leukocoria and a few can be confusing histopathologically. Retinal dysplasia is one such condition which simulates retinoblastoma histologically due to the presence of retinal pseudorosettes. [1]

A 6-year-old girl presented with complaints of decreased vision, pain, and redness in her left eye of 1 month duration. On examination, the left eye showed leukocoria with no perception of light. The right eye was normal. There were no congenital anomalies or any past history of trauma or eye infections.

Ultrasound examination showed a mass in the vitreous cavity suggestive of organized exudative retinal detachment. On computerized tomography scan, there was a soft tissue density mass with areas of calcification, suggestive of retinoblastoma. Enucleation of the left eye was performed with insertion of an orbital implant.

The enucleated specimen of eye ball measured 2.5 × 2 × 2 cm. Cut section showed a grayish-white mass with tiny chalky-white areas filling the vitreous chamber and measuring 1 × 0.8 × 0.8 cm [Figure 1]. Other structures of the eye were grossly unremarkable.

Histopathology showed a disorganized mass of retinal tissue filling the vitreous chamber. The retinal tissue was well differentiated and thrown into folds forming rosettes and tubular structures. The rosettes showed a well-delineated limiting membrane toward their luminal aspect and were surrounded by a row of uniform rounded nuclei, analogous to the outer nuclear layer of retina [Figure 2]. Some of the rosettes were double layered, showing a second row of nuclei which corresponded to the inner nuclear layer of the retina. There was no atypia, increased cellularity, or mitotic activity. Retinal detachment was also present with organized exudates filling the subretinal space with foci of dystrophic calcification. No immunohistochemical studies were carried out. A diagnosis of retinal dysplasia with exudative retinal detachment was made.
Figure 1: Cut secti on of the eyeball showing a white heterogeneous mass filling the vitreous chamber

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Figure 2: Retinal rosettes. Luminal aspect shows outer limiting membrane (solid arrow) surrounding which are nuclei of the outer nuclear layer (open arrow; H and E, ×400)

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Retinal dysplasia can mimic retinoblastoma as both the conditions show the presence of rosettes. [2] However, the rosettes in these two conditions are histologically different. In retinal dysplasia, the cells constituting the rosettes are relatively well differentiated with no increase in overall cellularity, atypia, or mitosis. Moreover, immunohistochemistry shows predominant expression of photoreceptor protein rod opsin along with cellular retinaldehyde-binding protein (CRAIBP), which highlights the Muller cells. In contrast, the Flexner-Wintersteiner rosettes of retinoblastoma stain for cone opsin and are negative for CRAIBP. [3],[4]

The pathogenesis of retinal dysplasia is poorly understood. The dysplastic rosettes are essentially laminated retina failing to establish a polarized orientation, resulting in prominent infolding and formation of tubules. It may be unilateral or bilateral; the latter is commonly associated with systemic abnormalities such as Norrie's disease and trisomy 13. [3],[5]

To conclude, it is very important to differentiate retinal dysplasia from retinoblastoma as the former would indicate an end to the treatment, whereas the latter would entail further investigations, treatment, and follow-up procedures for life. The surgical pathologist should keep this rare entity in mind whenever he is called to deal with a suspected case of retinoblastoma.


   Acknowledgments Top


We are grateful to Dr. Jyotirmay Biswas, Director of Uvea Pathology and Head of Ocular Pathology, and Dr. S. Krishna Kumar, Professor and Pathologist, Sankarnetralaya, Chennai, for histopathologic review of slides.

 
   References Top

1.Amoli FA, Piri N, Shams H. Etiologies of pseudoretinoblastomas in histopathologic specimens of enucleated or exenterated eyes with clinical diagnosis of retinoblastoma. Acta Med Iran 2005;43:105-9.  Back to cited text no. 1
    
2.Agarwal N, Gupta P, Agarwal A, Pantola C. Retinal dysplasia: A mimic of malignant ocular pathology. J Clin Diagn Res 2011;5:367-8.  Back to cited text no. 2
    
3.Chan A, Lakshminrusimha S, Heffner R, Gonzalez-Fernandez F. Histogenesis of retinal dysplasia in trisomy 13. Diagn Pathol 2007;2:48.  Back to cited text no. 3
    
4.Gonzalez-Fernandez F, Lopes MB, Garcia-Fernandez JM, Foster RG, De Grip WJ, Rosemberg S, et al. Expression of developmentally defined retinal phenotypes in the histogenesis of retinoblastoma. Am J Pathol 1992;141:363-75.  Back to cited text no. 4
    
5.Saini JS, Sharma A, Pillai P, Mohan K. Norries disease. Indian J Ophthalmol 1992;40:24-6  Back to cited text no. 5
    

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Correspondence Address:
Mark Ruth Prasanna
Department of Pathology, Christian Medical College and Hospital, Ludhiana - 141 008, Punjab
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0377-4929.116156

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