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| MEDICAL SCIENCE - RESEARCH ARTICLE |
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| Year : 2015 | Volume
: 7
| Issue : 5 | Page : 2-3 |
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A clinical study of retinoblastoma
L Subha, Arun Subhash Reddy, Ramyaa
Department of Ophthalmology, Sree Balaji Medical College and Hospital, Chromepet, Chennai, Tamil Nadu, India
| Date of Submission | 31-Oct-2014 |
| Date of Decision | 31-Oct-2014 |
| Date of Acceptance | 09-Nov-2014 |
| Date of Web Publication | 30-Apr-2015 |
Correspondence Address:
Dr. Arun Subhash Reddy
Department of Ophthalmology, Sree Balaji Medical College and Hospital, Chromepet, Chennai, Tamil Nadu
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/0975-7406.155761
 Abstract | | |
Aim: The aim was to analyze general incidence, age incidence, laterality, common mode of presentation, staging of the tumor, radiological evidence, histopathological confirmation, management and follow-up of cases, which were diagnosed as retinoblastoma. Design: Interventional case series study from April 1997 to March 2000. Materials and Methods: Detailed history regarding the symptoms such as white reflex, watering, pain, redness, protrusion of eyeball, squint, hyphema, and defective vision were obtained. Family history regarding consanguinity between parents, health of the siblings and other relatives were recorded. Ocular examination included vision, pupillary reaction, detailed fundus examination, ocular tension, and corneal diameter. Investigations included X-ray orbit and skull, computed tomography scan orbit and brain, B-scan orbit, serum and aqueous lactate dehydrogenase; enucleated eyes were subjected to holoprosencephaly (HPE). Enucleation, radiotherapy, cryotherapy and chemotherapy were modalities of treatment. The empty socket and the other apparently normal eye were examined carefully at each visit. Results: The incidence of retinoblastoma is less when compared to other diseases of the eye. There was no sex predilection. Most of the cases diagnosed were sporadic and unilateral. Age of onset is earlier for bilateral cases than unilateral cases. Consanguinity bears close relationship with bilateral involvement. Predominant clinical sign is white reflex in the pupillary area. Majority of cases presented in the second stage of the disease. Enucleation plays a greater role in the management of retinoblastoma. HPE should include several sections of the optic nerve to find out skip lesions. Keywords: Cryotherapy, enucleation, hyphaema, proptosis, pseudo hypopyon, retinoblastoma, white papillary reflex
How to cite this article:
Subha L, Reddy AS, Ramyaa. A clinical study of retinoblastoma. J Pharm Bioall Sci 2015;7, Suppl S1:2-3 |
To analyze general incidence, age incidence, laterality, common mode of presentation, staging of the tumor, radiological evidence, histopathological confirmation, management and follow-up of cases which were diagnosed as retinoblastoma.
| Materials and Methods | |  |
The study was conducted in Regional Institute of Ophthalmology, Government Ophthalmic Hospital Egmore from April 1997 to March 2000. All the children suspected to have retinoblastoma and cases, which were referred from other hospitals, were included in the study. Detailed history regarding the symptoms like white reflex, watering, pain, redness, protrusion of eye ball, squint, hyphema and defective vision were obtained. The laterality, duration and progress were noted.
Family history regarding consanguinity between parents and about the health and affection of the siblings and other relatives were recorded. Ocular examination which included vision, papillary reaction, detailed fundus examination, ocular tension, and corneal diameter were done.
Investigations included X-ray orbit and skull, computed tomography scan orbit and brain, B-scan orbit and aqueous lactate dehydrogenase; enucleated eyes were subjected to holoprosencephaly (HPE). Cases which required Radiotherapy were referred to Radiology Department GH. Cryotherapy and chemotherapy were other modalities of treatment. All patients were followed up the empty socket and the other apparently normal eye was examined carefully at each visit.
| Results | | |
The incidence of retinoblastoma is less when compared to other diseases of the eye. There was no sex predilection. Most of the cases diagnosed were sporadic and unilateral. Age of onset is earlier for bilateral cases than unilateral cases. Consanguinity bears close relationship with bilateral involvement. Predominant clinical sign is white reflex in the pupillary area. Majority of cases presented in the second stage of the disease. Enucleation plays a greater role in the management of retinoblastoma. HPE should include several sections of the optic nerve to find out skip lesions.
| Discussion | | |
Total number of cases studied was 26 and of this 14 cases (54%) were male and 12 cases (46%) were female. Sex has little bearing on the frequency.
Of the 26 children 7 of them (27%) had bilateral involvement and 19 cases (73%) had unilateral involvement [Table 1].
Age of onset of 54% of cases was between 1 and 3 years and the age of onset of 31% of cases was below 1-year and 15% above 3 years of age. Of the 73% of cases, which had unilateral involvement 50% were in the age group of 1-3 years 11.5% below 1-year and 11.5% above 3 years.
H/O consanguinity in the parents was present in 23% of cases. Half of these parents gave birth to children with bilateral retinoblastoma. Three out of 7 bilateral cases had history of consanguinity. This obviously means that a close correlation exists between consanguinity and bilateral involvement. None of the 26 children in this study had affected parents or siblings. This explained by the interpretation of dominant gene with incomplete penetrance. This causes an irregular dominance and hence that there is decrease in the expected rate of affection. The irregular dominance affecting 40% instead of 50% of children born is explained by the presence of phenotypically normal, but genetically affected carriers. Furthermore, the degree of the penetrance varies in different families and in different siblings within the same family [Table 2].
The commonest mode of presentation was a white reflex in the pupil (19 out of 26 cases), a percentage as high as 84.5%. Other presentations included white reflex with proptosis 11.5%, pseudohypopyon in 11.5% and only 1 case presented with hyphema. [1]
Of the 32 eyes examined for intraocular pressure (IOP) 26 eyes had raised IOP and 6 eyes showed normal IOP. One of the most important criteria for differentiating retinoblastoma from other pseudo gliomas is the IOP, which is always elevated in retinoblastoma [Table 3].
Of the 32 eyes studied 66% were in stage II, 22% in stage I and 12% in stage III. None of the children had distant metastasis [Table 4].
Out of the 32 eyes, 18 eyes were enucleated. In 10 cases, the HPE report showed choroidal and optic nerve involvement. Three cases which did not show any choroidal or optic nerve infiltration when followed showed recurrences. These were given radioptherapy which resulted in complete tumor regression.
Radiotherapy was given for 5 bilateral cases. Enucleation of 1 eye and cryotherapy to other less involved eye was done in 2 cases. Chemotherapy was given for 1 case which had bilateral involvement. [2],[3] Three cases refused treatment and were given discharge at request.
Though the trend in the management of retinoblastoma has changed from lifesaving to vision saving procedures. Enucleation remains still the treatment of choice unless there is definite indication for other modes of treatment. [4]
| References | | |
| 1. | Erwenne CM, Franco EL. Age and lateness of referral as determinants of extra-ocular retinoblastoma. Ophthalmic Paediatr Genet 1989;10:179-84.  |
| 2. | Donaldson S, Egbert P, Newsham I, Cavenee W. Retinoblastoma. In: Pizzo P, Poplack D, editors. Principles and Practice of Paediatric Oncology. 3 rd ed. Philadelphia: Lippincott; 1997. p. 669-715. |
| 3. | Shanmugam MP, Biswas J, Gopal L, Sharma T, Nizamuddin SH. The clinical spectrum and treatment outcome of retinoblastoma in Indian children. J Pediatr Ophthalmol Strabismus 2005;42:75-81. |
| 4. | Ellsworth RM. The practical management of retinoblastoma. Trans Am Ophthalmol Soc 1969;67:462-534. [ PUBMED] |
[Table 1], [Table 2], [Table 3], [Table 4]
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