Penetrance

See .

Source: GeneReviews — "Retinoblastoma"

Diagnostic Criteria

Guidelines for diagnosis and care of children and families affected by retinoblastoma have been published .

Suggestive Findings

Retinoblastoma should be suspected in children with any of the following:

• Leukocoria (white pupil)

• Strabismus

• Change in eye appearance

• Reduced visual acuity

Heritable retinoblastoma

should be suspected in an individual with any of the following:

• Diagnosis of retinoblastoma, including unilateral (unifocal and multifocal) and bilateral involvement

• Retinoma

• Family history of retinoblastoma

Establishing the Diagnosis

The diagnosis of retinoblastoma is established in a proband by retinal examination with full pupillary dilatation by an ophthalmologist or optometrist. Confirmation of the diagnosis and determination of the disease extent is accomplished by examination under anes...

Source: GeneReviews — "Retinoblastoma"

Differential Diagnosis

Several hereditary ocular conditions of childhood can clinically simulate retinoblastoma:

• NDP-related persistent fetal vasculature and NDP-related Coats disease (See NDP-Related Retinopathies.)

• Tuberous sclerosis complex

• Norrie disease (See NDP-Related Retinopathies.)

• Incontinentia pigmenti

• Familial exudative vitreoretinopathy (See Phenotypic Series: Exudative Vitreoretinopathy.)

• Von Hippel-Lindau syndrome

Ocular infestation by Toxocara canis can also clinically simulate retinoblastoma.

Source: GeneReviews — "Retinoblastoma"

Management Guidelines

Guidelines for retinoblastoma care have been developed (see and Kenya National Retinoblastoma Strategy Best Practice Guidelines).

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with retinoblastoma, the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Source: GeneReviews — "Retinoblastoma"

Surveillance Guidelines

Guidelines for clinical screening for children at risk have been published . Further information regarding medical surveillance for those who have had or are at risk of developing retinoblastoma is available in the guidelines for retinoblastoma care. Children who have undergone successful treatment require frequent follow-up examination for early detection of newly arising intraocular tumors, as indicated in the guidelines.

Table 3.

Retinoblastoma: Recommended Surveillance for Individuals at Risk and Affected Individuals

System/Concern | Evaluation | Frequency

Persons w/RB1 germline pathogenic variant (H1)

| • Eye exam under anesthesia (in young children)

• Clinical eye exams w/o anesthesia once children are cooperative w/exam

| • Every 3-4 wks until age 6 mos

• Every 2 mos from age 6 mos-3 yrs

• Every 3-6 mos from age 3-7 yrs

• Annually from age 7-10 yrs

• Every 2 yrs from age 10 yrs

Prompt clinical investigation of any signs/symptoms of subsequent non-ocular malignant neoplasms1 | Ongoing education of affected persons caregivers w/clinical investigation as needed

Persons w/unilateral retinoblastoma w/o germline RB1 pathogenic variant (H0*)2

| • Clinical eye exam (w/o anesthesia)

• Eye ultrasound

| • Every 3-6 mos from diagnosis to 7 yrs

• Every 2 yrs from age 7 yrs

Persons w/retinoma(s)

| • Retinal exams

• Photographic imaging to detect any change early

| Every 1-2 yrs

Non-ocular tumors

| Prompt clinical investigation of any signs/symptoms of malignant neoplasms1 |

Source: GeneReviews — "Retinoblastoma"