Retinoblastoma Clinical Presentation

Updated: Dec 17, 2019
  • Author: Marichelle Aventura Isidro, MD; Chief Editor: Donny W Suh, MD, MBA, FAAP, FACS  more...
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At the time of initial examination, obtain a careful family history.

Specifically ask parents about the occurrence of retinoblastoma in the family.

Elicit a history of eye tumors, previous enucleation, or any malignancy in childhood in any of the family members.

Only about 5% of patients who develop this disease have a positive family history.

A large number of patients with retinoblastoma (95%) have no previous family history, including those who have the bilateral hereditary form of the disease.



The clinical findings in all the stages of retinoblastoma are numerous and varied. The image below presents an overview of the presenting signs in retinoblastoma.

Presenting signs or symptoms in retinoblastoma. (T Presenting signs or symptoms in retinoblastoma. (This table is modified from Abramson DH, Frank CM, Susman M, et al. Presenting signs of retinoblastoma. J Pediatr 1998 Mar; 132(3 Pt 1): 505-8.)

Leukocoria (white pupillary reflex or cat's eye reflex) is the most common presenting sign, accounting for about 56.1% of cases. Leukocoria is shown in the image below.

Retinoblastoma, intraocular stage (leukocoria). Hi Retinoblastoma, intraocular stage (leukocoria). History: NB, 1-year-old male from Quezon Province, Philippines, with chief complaint of opacity, left eye. Born full-term spontaneous vaginal delivery (FTSVD) to a 27-year-old gravida 3, para 2 (2002) at home. Four months prior to admission (PTA), opacity was noted in the left eye (no consultation/medications). Five days PTA, consultation with an ophthalmologist. Examination: (+) leukocoria with visual acuity of central, steady, and maintained fixation on right eye, (-) dazzle on left eye; (+) Marcus Gunn (MG) reflex. Diagnostics: Ocular ultrasound was performed, revealing intraocular retinoblastoma. Management: Patient underwent enucleation of left eye. Examination under anesthesia of right eye: E/N retina. Histopathology: Retinoblastoma, intraocular stage left eye.

Strabismus, which occurs as a result of visual loss, is the second most common mode of presentation. Thus, funduscopic examination through a well-dilated pupil must be performed in all cases of childhood strabismus.

Retinoblastoma can cause secondary changes in the eye, including glaucoma, retinal detachment, and inflammation secondary to tumor necrosis.

Pseudouveitis, with a red eye and pain and associated hypopyon and hyphema, is a rare presentation. It is characteristic of an infiltrating type of retinoblastoma in which the tumor cells invade the retina diffusely without forming a discrete tumor mass.

Orbital inflammation mimicking orbital cellulitis may occur in eyes with necrotic tumors and does not necessarily imply extraocular extension.

The glaucomatous stage is shown in the image below.

Retinoblastoma, glaucomatous stage. History: AB, 2 Retinoblastoma, glaucomatous stage. History: AB, 2-year-old female from Marikina City, Philippines, with chief complaint of proptosis, right eye. The patient is an adopted child. Prior to admission (PTA), with child aged 6 months (time of adoption), surrogate mother noted an opacity in the right eye. No medical consultation. One year PTA, physician consultation; told AB had an "eye mass" and needed to see an ophthalmologist. No compliance. One month PTA, proptosis was noted in the right eye. Examination: Visual acuity (VA) of right eye is no light perception; VA of left eye is central, steady, and maintained fixation. Sensorium: Awake but irritable. Diagnostics: Intracranial extension on CT scan. Skeletal survey: E/N. Management: The patient underwent exenteration (right side).

The extraocular stage is shown in the image below.

Retinoblastoma, extraocular stage (neglected with Retinoblastoma, extraocular stage (neglected with necrosis). History: RC, 2-year-old male with chief complaint of left orbital mass. Born full-term spontaneous vaginal delivery (FTSVD) to a gravida 3, para 2 (2001) at home. Three months prior to admission (PTA), an inward deviation of the left eye was noted. No consultation. Six months PTA, opacity in the left eye was noted. Five months PTA, proptosis of the left eye with pain and bleeding was noted. Family/Social History: Indigent family. Youngest of 3 siblings; eldest sibling had no retinoblastoma; second sibling had retinoblastoma and underwent enucleation, dying after 2 sessions of chemotherapy. A cousin passed away with retinoblastoma. Examination: Indirect ophthalmoscopy of right eye revealed a large intraocular mass occupying the inferior half of the retina. Mass on left side. Management: The patient was scheduled for exenteration, left side. The mother and child went home against medical advice; what happened to the patient is not known.

Proptosis is a more common presenting symptom in most underdeveloped countries.



Retinoblastoma is caused by the so-called retinoblastoma gene, which is a mutation in the long arm of chromosome 13.

This gene name is actually a misnomer because the gene does not actively lead to retinoblastoma. The unaffected gene actually suppresses the development of retinoblastoma.

When both homologous loci of the suppressor gene become nonfunctional by either deletion error or by mutation, retinoblastoma develops.

A positive family history is present in 5-10% of children who develop this disease.

Castera et al identified MDM2 as the first modifier gene for retinoblastoma. [13] MDM2 increases p53 and pRB catabolism, both of which are involved in the development of retinoblastoma. A study of 326 individuals in 70 retinoblastoma families found that MDM2 is strongly associated with bilateral and unilateral retinoblastoma development.