Retinal dysplasia represents a congenital disorder characterized by abnormal proliferation of retinal tissue causing leukocoria. We present a case of an infant with bilateral leukocoria, clinically diagnosed as retinoblastoma, followed by enucleation of the left eye. Microscopy however, demonstrated retinal dysplasia consisting of a disorderly proliferation of retinal tissue with formation of rosettes, mimicking retinoblastoma. Microscopic features that aid in differentiating this lesion from retinoblastoma are discussed

Joji, A

Ravikumar, HN

Santosh, KV

Vani, R

English

Ravikumar HN

Vani Ravikumar

Santosh KV

Annie Joji

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Retinal Dysplasia Mimicking Retinoblastoma

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1 
 
  
 
 
Case Report: 
Retinal Dysplasia Mimicking Retinoblastoma. 
Authors 
Ravikumar HN, RV Metropolis Diagnostic and Healthcare Centre Pvt. Ltd., Bangalore, 
Vani Ravikumar, Bangalore Medical College and Research Institute, Bangalore 
Santosh KV, RV Metropolis Diagnostic and Healthcare Centre Pvt. Ltd., Bangalore, 
Annie Joji, RV Metropolis Diagnostic and Healthcare Centre Pvt. Ltd., Bangalore. 
Address for Correspondence 
Dr. Ravikumar HN, 
RV Metropolis Diagnostic and Healthcare Centre Pvt. Ltd., 
No. 7 & 21, 10th Cross, 
Yellappa Garden, Malleswaram, 
Bangalore - 560003.  
E-mail: drravikumar@metropolisindia.com 
Citation 
Ravikumar HN, Vani R, Santosh KV, Joji A. Retinal Dysplasia Mimicking Retinoblastoma. Online J Health Allied 
Scs. 2012;11(3):10. Available at URL:http://www.ojhas.org/issue43/2012-3-10.htm 
Open Access Archives 
http://cogprints.org/view/subjects/OJHAS.html 
http://openmed.nic.in/view/subjects/ojhas.html 
Submitted: Aug 3, 2012; Accepted: Oct 4, 2012; Published: Oct 25, 2012 
Abstract: Retinal dysplasia represents a congenital disorder 
characterized by abnormal proliferation of retinal tissue 
causing leukocoria. We present a case of an infant with 
bilateral leukocoria, clinically diagnosed as retinoblastoma, 
followed by enucleation of the left eye. Microscopy however, 
demonstrated retinal dysplasia consisting of a disorderly 
proliferation of retinal tissue with formation of rosettes, 
mimicking retinoblastoma. Microscopic features that aid in 
differentiating this lesion from retinoblastoma are discussed. 
Keywords: Retinal Dysplasia; Retinoblastoma; Leukocoria 
 
Introduction 
Leukocoria, an abnormal white reflection from the retina, is a 
condition caused by several lesions. The causes of leukocoria 
include Retinoblastoma and also non-tumorous conditions 
like Persistent Hyperplastic Primary Vitreous, Coat’s disease, 
congenital cataract and retinal dysplasia. It is of vital 
importance that Retinoblastoma be differentiated from the 
rest of the non-tumorous conditions as treatment options and 
prognosis are different in cases of retinoblastoma. Retinal 
dysplasia represents a rare cause of leukocoria. It is the 
congenital anomaly in which the retinal layer forms a 
disordered proliferative lesion and leads to congenital 
blindness in children. 
Case Report 
We received an enucleated specimen of the left eye from a 
case of a one year old child with leukocoria in both eyes 
since birth, the eye being enucleated following a clinical 
diagnosis of retinoblastoma. 
The gross specimen consisted of an eyeball measuring 2 x 1.8 
x 1.5 cm. The cornea measured 1.2 x 0.9 cm. At the posterior 
end, soft tissue bit 2.0 cm long was present. Cut section 
showed reddish brown material with central tiny grey-white 
area of 0.8 cm diameter in the retrolental region. 
On microscopy, portions of normal eyeball tissue were 
identified in the anterior segment. In addition, the section 
from the retrolental tissue showed swirls and whorls of 
uniform cells in multiple layers reminiscent of normal retinal 
epithelium. These cells had uniform round nuclei with 
speckled chromatin, scant cytoplasm and indistinct cell 
membranes. (Fig. 1) At several places these cells were 
arranged in rosette-like formations with central lumina 
typical of Flexner-Wintersteiner rosettes. (Fig. 2) No nuclear 
atypia was evident. No necrosis or calcification was noted. 
The skeletal muscle fibers and neural fibers from the 
posterior end of the specimen were within normal limits. 
Histological features were that of ‘Retinal Dysplasia’. 
A request for chromosomal study was made, but was 
declined by the patient’s parents. The other eye was left in 
situ. 
 
Figure 1: Cells arranged in multilayered swirls and 
whorls (H&E, X100) 
 
This work is licensed under a 
Creative Commons Attribution- 
No Derivative Works 2.5 India License 
Online Journal of Health and Allied Sciences 
Peer Reviewed, Open Access, Free Online Journal 
Published Quarterly :  Mangalore, South India : ISSN 0972-5997 
Volume 11, Issue 3; Jul-Sep 2012 
2 
 
 
Figure 2: Rosette-like arrangement of cells resembling 
Flexner-Wintersteiner rosettes (H&E, X400) 
 
Discussion 
The normal histology of the retina is characterized by the 
ordered orientation of cells forming a multilayered tissue. 
When this orderly arrangement of the retinal layers is 
disrupted, retinal dysplasia results. The term “retinal 
dysplasia” was first described by Reese and Blodi in 
1950. [1] Retinal dysplasia may be unilateral or bilateral; the 
latter is often associated with congenital conditions like 
Trisomy 13, Norrie’s syndrome and Warburg syndrome. [2, 3, 
4] An X-linked dominant inheritance has been 
described. [4] Retinal dysplasia is an extremely rare condition; 
the exact incidence cannot be ascertained as the term “retinal 
dysplasia” has been used in various contexts to indicate any 
congenital anomaly of the retina. To the best of our 
knowledge, only one such case is reported from India. [5] 
The major histopathologic differential diagnosis to be 
considered while making a diagnosis of retinal dysplasia is 
retinoblastoma, both having in common the presence of 
rosettes. The rosettes of retinoblastoma are composed of 
anaplastic cells with poor differentiation while cells of 
rosettes in retinal dysplasia are more uniform and bland. 
Moreover, the rosettes in retinal dysplasia show a 
fundamental alteration in arrangement as observed on 
immunohistochemical study – the outer nuclear layer is 
present centrally and the lumen is lined by outer limiting 
membrane, while the inner nuclear layer is present more 
peripherally. [2] In addition, the cells lining the rosettes in 
retinal dysplasia have been shown by immunohistochemistry 
to be populated by a more diverse population than the 
rosettes in retinoblastoma. The cells in retinoblastoma are 
positive for cone opsin while those of retinal dysplasia stain 
for rod opsin and focally for Muller cells. [2, 6] Other helpful 
features that distinguish retinoblastoma are the presence of 
mitoses, necrosis and calcification. (Table 1) 
Table 1: Features helpful in differentiating 
retinoblastoma from retinal dysplasia on microscopy 
Character Retinoblastoma Retinal dysplasia 
Cells Undifferentiated Uniform 
Mitoses Frequent Rare 
Necrosis, 
calcification 
Present Absent 
Rosettes (IHC) 
Positive for 
cone opsin 
Positive for rod opsin and 
Muller cells 
Layers in 
rosettes (IHC) 
No pattern Reversal of normal pattern 
Other common causes of leukocoria can be excluded on 
histology: Coat’s disease shows cholesterol clefts and foamy 
macrophages, Persistent Hyperplastic Primary Vitreous 
contains fibrovascular tissue and Retinocytoma is composed 
of numerous rosettes. [7] 
Retinal dysplasia presenting as leukocoria may be mistaken 
for retinoblastoma clinically. The routine microscopic 
findings may also simulate a retinoblastoma. Nevertheless, 
there are microscopic features that are distinctive enough to 
warrant a confident diagnosis of retinal dysplasia. The need 
to not misdiagnose this as a retinoblastoma is of extreme 
importance given the drastic contrast in prognosis between 
the two conditions. 
 
Acknowledgement: The authors wish to thank Dr Geeta 
Vemuganti, LV Prasad Eye Institute, Hyderabad for her 
valuable opinion. 
 
References 
1. Reese AB, Blodi FC: Retinal dysplasia. Am J 
Ophthalmol 1950;33:23. 
2. Chan A, Lakshminrusimha S, Heffner R, Gonzalez-
Fernandez F. Histogenesis of retinal dysplasia in 
trisomy 13. Diagn Pathol. 2007;2:48. 
3. de Graaf P, van der Valk P, Moll AC, Imhof SM, 
Schouten-van Meeteren AY, Castelijns JA. Retinal 
dysplasia mimicking intraocular tumor: MR imaging 
findings with histopathologic correlation. AJNR Am J 
Neuroradiol.2007;28(9):1731-1733. 
4. Lloyd IC, Colley A, Tullo AB, Bonshek R. Dominantly 
inherited unilateral retinal dysplasia. Br J Ophthalmol. 
1993;77(6):378-80. 
5. Agarwal N, Gupta P, Agarwal A, Pantola C. Retinal 
Dysplasia – A Mimic of Malignant Ocular Pathology. J 
of Clinical and Diagnostic Research. 2011:5(2);367-
368. 
6. Gonzalez-Fernandez F, Lopes MB, Garcia-Fernandez 
JM, Foster RG, De Grip WJ, Rosemberg S, Newman 
SA, VandenBerg SR. Expression of developmentally 
defined retinal phenotypes in the histogenesis of 
retinoblastoma. Am J Pathol. 1992;141(2):363-375. 
7. Eagle EC. Ch 11, Retinoblastoma and other pediatric 
intraocular tumors. In Eye Pathology – An Atlas and 
Basic Text. W.B. Saunders Co., Philadelphia. 1999. p. 
199-205. 


Retinal Dysplasia Mimicking Retinoblastoma.

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Retinal Dysplasia Mimicking Retinoblastoma.

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