Screening for<unk>  should be part of a "well baby" screening for newborns during the first 3 months of life, to include: * The red reflex: checking for a normal reddish-orange reflection from the eye's retina with an ophthalmoscope or retinoscope from about 30 cm or 1 foot, usually done in a dimly lit or dark room * The corneal light reflex or Hirschberg test: checking for symmetrical reflection of beam of light in the same spot on each eye when a light is shined into each cornea, to help determine whether the eyes are crossed * Eye examination: checking for any structural abnormalities Classification The two forms of the disease are a heritable form and nonheritable form (all cancers are considered genetic in that mutations of the genome are required for their development, but this does not imply that they are heritable, or transmitted to offspring). Around 55% of children with<unk>  have the nonheritable form. If no history of the disease exists within the family, the disease is labeled "sporadic", but this does not necessarily indicate that it is the nonheritable form. Bilateral<unk> s are commonly heritable, while unilateral<unk> s are commonly nonheritable. In about two-thirds of cases, only one eye is affected (unilateral<unk> ; in the other third, tumors develop in both eyes (bilateral<unk> . The number and size of tumors on each eye may vary. In certain cases, the pineal gland or the suprasellar or parasellar region (or in very rare cases other midline intracranial locations) is also affected (trilateral<unk> . The position, size, and quantity of tumors are considered when choosing the type of treatment for the disease. Differential diagnosis :1. Persistent hyperplastic primary vitreous is a congenital developmental anomaly of the eye resulting from failure of the embryological, primary vitreous, and hyaloid vasculature to regress, whereby the eye is shorter, develops a cataract, and may present with whitening of the pupil. :2. Coats disease is a typically unilateral disease characterised by abnormal development of blood vessels behind the retina, leading to blood vessel abnormalities in the retina and retinal detachment to mimic<unk> . :3. Toxocariasis is a parasitic disease of the eye associated with exposure to infected puppies, which causes a retinal lesion leading to retinal detachment. :4. Retinopathy of prematurity is associated with low-birth-weight infants who receive supplemental oxygen in the period immediately after birth, and it involves damage to the retinal tissue and may lead to retinal detachment. MRI pattern of<unk>  with optic nerve involvement (sagittal enhanced T1-weighted sequence) If the eye examination is abnormal, further testing may include imaging studies, such as computerized tomography (CT), magnetic resonance imaging (MRI), and ultrasound. CT and MRI can help define the structure abnormalities and reveal any calcium depositions. Ultrasound can help define the height and thickness of the tumor. Bone marrow examination or lumbar puncture may also be done to determine any metastases to bones or the brain. Morphology Gross and microscopic appearances of<unk>  are identical in both hereditary and sporadic types. Macroscopically, viable tumor cells are found near blood vessels, while zones of necrosis are found in relatively avascular areas. Microscopically, both undifferentiated and differentiated elements may be present. Undifferentiated elements appear as collections of small, round cells with hyperchromatic nuclei; differentiated elements include Flexner-Wintersteiner rosettes, Homer Wright rosettes, and fleurettes from photoreceptor differentiation. Image:Wardrop<unk> .Drawing of a large<unk>  Image:Trilateral<unk> .Aspect of trilateral<unk>  on MRI Image:Retinoblastoma ultrasound.An ocular ultrasound of a large<unk>  tumor within the eye of a 3-year-old boy Image:Retinoblastooma.Funduscopic finding of a<unk>  Image:Fundus<unk> .Ocular fundus aspect of<unk>  Image:Retinoblastoma_in_enucleated_eyeball.Gross pathology of<unk>  tumor in enucleated eye of 3-year-old female Image:Retinoblastoma .Large exophytic white tumor with foci of calcification producing total exudative retinal detachment Image:Retinoblastoma rosette.Flexner-Wintersteiner rosettes in<unk>  Image:Rtbl400.Retinoblastoma, 400 X magnification Image:RB1.Crystal structure of the<unk>  tumor suppressor protein bound to E2F peptide polymer Genetic testing Identifying the<unk> 1 gene mutation that led to a child's<unk>  can be important in the clinical care of the affected individual and in the care of (future) siblings and offspring. It may run in the family. # Bilaterally affected individuals and 13-15% of unilaterally affected individuals, are expected to show an<unk> 1 mutation in blood. By identifying the<unk> 1 mutation in the affected individual, (future) siblings, children, and other relatives can be tested for the mutation; if they do not carry the mutation, child relatives are not at risk of<unk> , so need not undergo the trauma and expense of examinations under anaesthetic. For the 85% of unilaterally affected patients found not to carry either of their eye tumor<unk> 1 mutations in blood, neither molecular testing nor clinical surveillance of siblings is required. # If the<unk> 1 mutation of an affected individual is identified, amniotic cells in an at-risk pregnancy can be tested for the family mutation; any fetus that carries the mutation can be delivered early, allowing early treatment of any eye tumors, leading to better visual outcomes. # For cases of unilateral<unk>  where no eye tumor is available for testing, if no<unk> 1 mutation is detected in blood after high-sensitivity molecular testing (i.e. >93%<unk> 1 mutation detection sensitivity), the risk of a germline<unk> 1 mutation is reduced to less than 1%, a level at which only clinic examination (and not examinations under anaesthetic) is recommended for the affected individual and their future offspring (National<unk>  Strategy, Canadian Guidelines for Care). Imaging Traditional ultrasound B scan can detect calcifications in the tumour while high-frequency ultrasound B scan is able to provide higher resolution than the traditional ultrasound and determine the proximity of the tumour with front portion of the eye. MRI scan can detect high-risk features such as optic nerve invasion; choroidal invasion, scleral invasion, and intracranial invasion. CT scan is generally avoided because radiation can stimulate the formation of more eye tumours in those with<unk> 1 genetic mutation.
Retinoblastoma
Ameloblastoma
Mantleoma
Hemangioblastoma
Schwannomatosis
Cementoblastoma
Pinealoma
Brown tumor