Retinoblastoma screening: Difference between revisions

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==Screening==
==Screening==
* In 2018, a group of experts in clinical retinoblastoma care and [[ophthalmic]] [[pathology]] and [[genetics]] suggested a risk-stratified schedule for [[ophthalmic]] [[Screening (medicine)|screening]] [[Examination|examinations]].<ref name="SkaletGombos2018">{{cite journal|last1=Skalet|first1=Alison H.|last2=Gombos|first2=Dan S.|last3=Gallie|first3=Brenda L.|last4=Kim|first4=Jonathan W.|last5=Shields|first5=Carol L.|last6=Marr|first6=Brian P.|last7=Plon|first7=Sharon E.|last8=Chévez-Barrios|first8=Patricia|title=Screening Children at Risk for Retinoblastoma|journal=Ophthalmology|volume=125|issue=3|year=2018|pages=453–458|issn=01616420|doi=10.1016/j.ophtha.2017.09.001}}</ref>  
* In 2018, a group of experts in clinical retinoblastoma care and [[ophthalmic]] [[pathology]] and [[genetics]] suggested a risk-stratified schedule for [[ophthalmic]] [[Screening (medicine)|screening]] [[Examination|examinations]].<ref name="SkaletGombos2018">{{cite journal|last1=Skalet|first1=Alison H.|last2=Gombos|first2=Dan S.|last3=Gallie|first3=Brenda L.|last4=Kim|first4=Jonathan W.|last5=Shields|first5=Carol L.|last6=Marr|first6=Brian P.|last7=Plon|first7=Sharon E.|last8=Chévez-Barrios|first8=Patricia|title=Screening Children at Risk for Retinoblastoma|journal=Ophthalmology|volume=125|issue=3|year=2018|pages=453–458|issn=01616420|doi=10.1016/j.ophtha.2017.09.001}}</ref>  
* This panel of experts recommended that all [[Child|children]] with an elevated risk of retinoblastoma (above the population risk) should be [[Screening (medicine)|screened]] via regular [[Fundoscopy|fundoscopic examination]].
* This panel of experts recommended that all [[Child|children]] with an elevated risk of retinoblastoma (above the population risk) should be [[Screening (medicine)|screened]] via regular [[Fundoscopy|fundoscopic examinations]].
*To schedule a [[screening]] plan, the risk of [[tumor]] development must be determined using the [[infant]] relationship to the family member with retinoblastoma.
*To schedule a [[screening]] plan, the risk of [[tumor]] development must be determined using the [[infant]] relationship to the family member with retinoblastoma.
*The table below is an estimate of [[Patient|patients]] risk for the development of retinoblastoma depending on the relativity of [[patient]] to the affected relatives.
*The table below is an estimate of [[Patient|patients']] risk for the development of retinoblastoma depending on the relation of the [[patient]] to the affected individual:
{| border="3"
{| border="3"
|+ Risk of carrying [[mutated]] [[gene]] in the relatives of a patient with retinoblastoma (Patient)(%)
|+  
! Relative of patient !! Bilateral involvement (100%) !! Unilateral involvement (15%)  
! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Relative of patient}} !! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Bilateral involvement (100%)}} !! style="background: #4479BA; width: 150px;" | {{fontcolor|#FFF| Unilateral involvement (15%)}}
|-
|-
! Offspring (infant)
! style="padding: 5px 5px; background: #DCDCDC; " |Offspring (infant)
| 50  || 7.5
| style="padding: 5px 5px; background: #F5F5F5;" align="center" | 50  || style="padding: 5px 5px; background: #F5F5F5;" align="center" | 7.5
|-
|-
! Parent
! style="padding: 5px 5px; background: #DCDCDC; " | Parent
|5
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |5
|0.8
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.8
|-
|-
! Sibling
! style="padding: 5px 5px; background: #DCDCDC; " | Sibling
|2.5
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |2.5
|0.4
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.4
|-
|-
! Niece/nephew
! style="padding: 5px 5px; background: #DCDCDC; " | Niece/nephew
|1.3
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |1.3
|0.2
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.2
|-
|-
! Aunt/uncle
! style="padding: 5px 5px; background: #DCDCDC; " | Aunt/uncle
|0.1
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.1
|0.007
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.007
|-
|-
! First cousin
! style="padding: 5px 5px; background: #DCDCDC; " | First cousin
|0.05
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.05
|0.007
| style="padding: 5px 5px; background: #F5F5F5;" align="center" |0.007
|}
|}
{|
{|
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|-  
|-  
|}
|}
Next step in assessing the risk of these children is to estimate the approximate relative risk of retinoblastoma development according to the percentage mentioned in the aforementioned table.
* Next step in assessing the risk of these [[Child|children]] is to estimate the approximate relative risk of retinoblastoma development according to the percentage mentioned in the above table.
 
*Relatives are categorized into three categories:
*Relatives are categorized into three categories:
**High risk: those with risk percentage > 7.5%
**'''High risk:''' Those with a risk percentage > 7.5%
**Intermediate risk: those with risk percentage between and 1% and 7.5% (including 7.5%).
**'''Intermediate risk:''' Those with a risk percentage between 1% and 7.5% (including 7.5%)
**Low risk: those with risk percentage < 1%.
**'''Low risk:''' Those with a risk percentage < 1%
*American Association of [[Ophthalmic]] [[Oncologists]] and [[Pathologists]] (AAOOP) guideline recommends scheduled [[eye examination]] for the [[screening]] of children at higher risk of retinoblastoma. <ref name="SkaletGombos2018">{{cite journal|last1=Skalet|first1=Alison H.|last2=Gombos|first2=Dan S.|last3=Gallie|first3=Brenda L.|last4=Kim|first4=Jonathan W.|last5=Shields|first5=Carol L.|last6=Marr|first6=Brian P.|last7=Plon|first7=Sharon E.|last8=Chévez-Barrios|first8=Patricia|title=Screening Children at Risk for Retinoblastoma|journal=Ophthalmology|volume=125|issue=3|year=2018|pages=453–458|issn=01616420|doi=10.1016/j.ophtha.2017.09.001}}</ref>
*American Association of [[Ophthalmic]] [[Oncologists]] and [[Pathologists]] (AAOOP) [[Medical guideline|guideline]] recommends scheduled [[eye examination]] for the [[screening]] of children at high risk of developing retinoblastoma. [[Screening (medicine)|Screening]] should be initiated at [[birth]] and continued till the age of 7 years.<ref name="SkaletGombos2018">{{cite journal|last1=Skalet|first1=Alison H.|last2=Gombos|first2=Dan S.|last3=Gallie|first3=Brenda L.|last4=Kim|first4=Jonathan W.|last5=Shields|first5=Carol L.|last6=Marr|first6=Brian P.|last7=Plon|first7=Sharon E.|last8=Chévez-Barrios|first8=Patricia|title=Screening Children at Risk for Retinoblastoma|journal=Ophthalmology|volume=125|issue=3|year=2018|pages=453–458|issn=01616420|doi=10.1016/j.ophtha.2017.09.001}}</ref>
*This society recommends [[screening]] from birth up to 7 years of age.
*No further [[Eye examination|examination]] is required after the age of 7 years except for those who are known carriers of the [[RB1]] [[gene]] [[mutation]].
*No further [[Eye examination|examination]] is required after this age except for those who are known carriers of the [[RB1]] [[gene]] [[mutation]].
*For those who are carries of the [[RB1]] [[gene]] [[mutation]], [[screening]] should be continued indefinitely after the age of 7 years and should be done annually or every 2 years.
*For those who carries the [[RB1]] [[gene]] [[mutation]], [[screening]] should be continued indefinitely after the age of 7 years annually or every 2 years.
 
The following table is the recommended [[eye examination]] schedule for unaffected children of families with retinoblastoma depending on their age and risk percentage of tumor development.
* The following table is the recommended [[eye examination]] schedule for unaffected [[Child|children]] of families with retinoblastoma depending on their age and risk percentage of [[tumor]] development:
{| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align="center"
{| style="border: 0px; font-size: 90%; margin: 3px; width: 600px" align="center"
| valign="top" |
| valign="top" |
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Birth to 8 weeks
Birth to 8 weeks
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Every 2-4 weeks
*Every 2 - 4 weeks
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Monthly
*Monthly
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|-
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
>8-12 weeks
> 8 - 12 weeks
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Monthly
*Monthly
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|-
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
>3 to 12 months
> 3 - 12 months
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Monthly
*Monthly
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|-
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
>12 to 24 months
> 12 - 24 months
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Every 2 months
*Every 2 months
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|-
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
>24 to 36 months
> 24 - 36 months
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Every 3 months
*Every 3 months
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|-
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
>36 to 48 months
> 36 - 48 months
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Every 4 months
*Every 4 months
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Every 4-6 months
*Every 4 - 6 months
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Every 6 months
*Every 6 months
|-
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
>48 to 60 months
> 48 - 60 months
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Every 6 months
*Every 6 months
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Every 4-6 months
*Every 4 - 6 months
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Annually
*Annually
|-
|-
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
| style="padding: 5px 5px; background: #DCDCDC;font-weight: bold" |
5 to 7 years
5 - 7 years
| style="padding: 5px 5px; background: #F5F5F5;" |
| style="padding: 5px 5px; background: #F5F5F5;" |
*Every 6 months
*Every 6 months
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|}
|}
{|
{|
! colspan="2" style="background:#DCDCDC;" align="center" + |The above table is the recommended management guideline for childhood screening of<br>families with affected individuals and adopted from Ophthalmology journal<ref name="SkaletGombos2018">{{cite journal|last1=Skalet|first1=Alison H.|last2=Gombos|first2=Dan S.|last3=Gallie|first3=Brenda L.|last4=Kim|first4=Jonathan W.|last5=Shields|first5=Carol L.|last6=Marr|first6=Brian P.|last7=Plon|first7=Sharon E.|last8=Chévez-Barrios|first8=Patricia|title=Screening Children at Risk for Retinoblastoma|journal=Ophthalmology|volume=125|issue=3|year=2018|pages=453–458|issn=01616420|doi=10.1016/j.ophtha.2017.09.001}}</ref>
! colspan="2" style="background:#DCDCDC;" align="center" + |This table is adopted from Ophthalmology journal<ref name="SkaletGombos2018">{{cite journal|last1=Skalet|first1=Alison H.|last2=Gombos|first2=Dan S.|last3=Gallie|first3=Brenda L.|last4=Kim|first4=Jonathan W.|last5=Shields|first5=Carol L.|last6=Marr|first6=Brian P.|last7=Plon|first7=Sharon E.|last8=Chévez-Barrios|first8=Patricia|title=Screening Children at Risk for Retinoblastoma|journal=Ophthalmology|volume=125|issue=3|year=2018|pages=453–458|issn=01616420|doi=10.1016/j.ophtha.2017.09.001}}</ref>
|-  
|-  
|}
|}
*The schedule presented above is general guideline for at-risk child when no [[Lesion|lesions]] of concern have been noted. Some children may require more frequent [[Eye examination|examinations]].
*The schedule presented above is general [[Medical guideline|guideline]] for at-risk [[Child|children]] when no [[Lesion|lesions]] of concern have been noted. Some [[Child|children]] may require more frequent [[Eye examination|examinations]].
The AAOOP guideline also suggests a single dilated fundus examination to evaluate for [[asymptomatic]] spontaneously regressed retinoblastoma or retinoma in all first-degree relatives of a patient with retinoblastoma, including older siblings if the [[RB1]] [[genetic analysis]] of the relatives is not done.
 
===[[Genetic testing]] for child with Retinoblastoma===
* The American Association of [[Ophthalmic]] [[Oncologists]] and [[Pathologists]] (AAOOP) [[Medical guideline|guideline]] also suggests a single dilated [[Fundus (eye)|fundus]] [[Physical examination|examination]] to evaluate for [[asymptomatic]] spontaneously regressed retinoblastoma or retinoma in all first-degree relatives of a [[patient]] with retinoblastoma, including older siblings if the [[RB1]] [[genetic analysis]] of the relatives is not done.
 
===[[Genetic testing|Genetic Testing]] for Children with Retinoblastoma===
{{familytree/start}}
{{familytree/start}}
{{familytree | | | | | | | | | | | | | | | A01 | | | | | |A01=[[Genetic testing]] for child with [[Retinoblastoma]]}}
{{familytree | | | | | | | | | | | | | | | A01 | | | | | |A01=[[Genetic testing]] for children with Retinoblastoma}}
{{familytree | | | | | | | | | | | | | | | |!| | | }}
{{familytree | | | | | | | | | | | | | | | |!| | | }}
{{familytree | |,|-|-|-|-|-|v|-|-|-|-|-|-|-|+|-|-|-|-|v|-|-|-|.| | }}
{{familytree | |,|-|-|-|-|-|v|-|-|-|-|-|-|-|+|-|-|-|-|v|-|-|-|.| | }}
{{familytree | |!| | | | | |!| | | | | | | |!| | | | |!| | | |!| | | }}
{{familytree | |!| | | | | |!| | | | | | | |!| | | | |!| | | |!| | | }}
{{familytree | D01 | | | | D02 | | | | | | D03 | | | D04 | | D05 |D01=Not available|D02=[[Blood]]:[[RB1]] [[mutation]](+)<br>([[germline mutation]])|D03=Blood:[[RB1]] [[mutation]](-)<br>[[Tumor]]:[[RB1]] [[mutation]](+)|D04=[[Blood]]:[[RB1]] [[mutation]](-)<br>[[tumor]]:[[RB1]] [[mutation]](-)|D05=[[Blood]]:[[RB1]] [[mutation]](-)<br>[[Tumor]]:not available}}
{{familytree | D01 | | | | D02 | | | | | | D03 | | | D04 | | D05 |D01=Not available|D02=[[Blood]]: [[RB1]] [[mutation]](+)<br>([[germline mutation]])|D03=Blood: [[RB1]] [[mutation]](-)<br>[[Tumor]]: [[RB1]] [[mutation]](+)|D04=[[Blood]]: [[RB1]] [[mutation]](-)<br>[[Tumor]]: [[RB1]] [[mutation]](-)|D05=[[Blood]]: [[RB1]] [[mutation]](-)<br>[[Tumor]]: not available}}
{{familytree | |!| | | | | |!| | | | | | | |!| | | | |!| | | |!| }}
{{familytree | |!| | | | | |!| | | | | | | |!| | | | |!| | | |!| }}
{{familytree | E01 | | | | E02 | | | | | | E03 | | | |`| E04 |'| |E01=Ophthalmic [[screnning]] for all<br>the relatives with greater than population risk|E02=Assessment of relatives<br>for familial [[retinoblastoma]]|E03=Ophthalmic [[screening]] and [[genetic analysis]]<br>not required for 1-degree relatives|E04=No need for [[genetic analysis]] of 1-degree relatives}}
{{familytree | E01 | | | | E02 | | | | | | E03 | | | |`| E04 |'| |E01=Ophthalmic [[screening]] for all<br>the relatives with greater risk than the population |E02=Assessment of relatives<br>for familial retinoblastoma|E03=Ophthalmic [[screening]] and [[genetic analysis]]<br>not required for first degree relatives|E04=No need for [[genetic analysis]] of first degree relatives}}
{{familytree | | | | | |,|-|^|-|.| | | | | |!| | | | | | |!| }}
{{familytree | | | | | |,|-|^|-|.| | | | | |!| | | | | | |!| }}
{{familytree | | | | | F01 | | F02 | | | | F03 | | | | | F04 |F01=Relatives with [[RB1]] [[mutation]]|F02=Relatives w/o [[RB1]] [[mutation]]|F03=Ophthlamic [[screening]] for future offspring unless negative for parent's [[mutation]]|F04=Future offspring of affected child require ophthalmic [[screening]]}}
{{familytree | | | | | F01 | | F02 | | | | F03 | | | | | F04 |F01=Relatives with [[RB1]] [[mutation]]|F02=Relatives without [[RB1]] [[mutation]]|F03=Ophthlamic [[screening]] for future offspring unless negative for parent's [[mutation]]|F04=Future offspring of affected child require ophthalmic [[screening]]}}
{{familytree | | | | | |!| | | |!| | | |}}
{{familytree | | | | | |!| | | |!| | | |}}
{{familytree | | | | | G01 | | G02 | | |G01=Ophthalmic [[screening]] for children as high risk|G02=Ophthalmic [[screening]] not required}}
{{familytree | | | | | G01 | | G02 | | |G01=Ophthalmic [[screening]] for children as high risk|G02=Ophthalmic [[screening]] not required}}
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==References==
==References==
{{reflist|2}}
{{reflist|2}}
[[Category:Medicine]]
[[Category:Medicine]]
[[Category:Oncology]]
[[Category:Oncology]]
[[Category:Up-To-Date]]
[[Category:Up-To-Date]]
[[Category:Primary care]]
[[Category:Surgery]]
[[Category:Surgery]]

Latest revision as of 23:59, 29 July 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Sahar Memar Montazerin, M.D.[2] Simrat Sarai, M.D. [3]

Overview

Early diagnosis of retinoblastoma is necessary to obtain the best outcomes for preservation of the vision and the eye. In 2018, a group of experts in clinical retinoblastoma care and ophthalmic pathology and genetics suggested a risk-stratified schedule for ophthalmic screening examinations. Estimated risk of retinoblastoma development is calculated according to the relativity of individuals to the family member with retinoblastoma.

Screening

Relative of patient Bilateral involvement (100%) Unilateral involvement (15%)
Offspring (infant) 50 7.5
Parent 5 0.8
Sibling 2.5 0.4
Niece/nephew 1.3 0.2
Aunt/uncle 0.1 0.007
First cousin 0.05 0.007
The above table adopted from Ophthalmology journal [1]
  • Next step in assessing the risk of these children is to estimate the approximate relative risk of retinoblastoma development according to the percentage mentioned in the above table.
  • Relatives are categorized into three categories:
    • High risk: Those with a risk percentage > 7.5%
    • Intermediate risk: Those with a risk percentage between 1% and 7.5% (including 7.5%)
    • Low risk: Those with a risk percentage < 1%
  • American Association of Ophthalmic Oncologists and Pathologists (AAOOP) guideline recommends scheduled eye examination for the screening of children at high risk of developing retinoblastoma. Screening should be initiated at birth and continued till the age of 7 years.[1]
  • No further examination is required after the age of 7 years except for those who are known carriers of the RB1 gene mutation.
  • For those who are carries of the RB1 gene mutation, screening should be continued indefinitely after the age of 7 years and should be done annually or every 2 years.
  • The following table is the recommended eye examination schedule for unaffected children of families with retinoblastoma depending on their age and risk percentage of tumor development:
Risk category or Age High risk Intermediate risk Low risk

Birth to 8 weeks

  • Every 2 - 4 weeks
  • Monthly
  • Monthly

> 8 - 12 weeks

  • Monthly
  • Monthly
  • Monthly

> 3 - 12 months

  • Monthly
  • Every 2 months
  • Every 3 months

> 12 - 24 months

  • Every 2 months
  • Every 3 months
  • Every 4 months

> 24 - 36 months

  • Every 3 months
  • Every 3 months
  • Every 6 months

> 36 - 48 months

  • Every 4 months
  • Every 4 - 6 months
  • Every 6 months

> 48 - 60 months

  • Every 6 months
  • Every 4 - 6 months
  • Annually

5 - 7 years

  • Every 6 months
  • Annually
  • Annually
This table is adopted from Ophthalmology journal[1]

Genetic Testing for Children with Retinoblastoma

 
 
 
 
 
 
 
 
 
 
 
 
 
 
Genetic testing for children with Retinoblastoma
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Not available
 
 
 
Blood: RB1 mutation(+)
(germline mutation)
 
 
 
 
 
Blood: RB1 mutation(-)
Tumor: RB1 mutation(+)
 
 
Blood: RB1 mutation(-)
Tumor: RB1 mutation(-)
 
Blood: RB1 mutation(-)
Tumor: not available
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Ophthalmic screening for all
the relatives with greater risk than the population
 
 
 
Assessment of relatives
for familial retinoblastoma
 
 
 
 
 
Ophthalmic screening and genetic analysis
not required for first degree relatives
 
 
 
 
 
No need for genetic analysis of first degree relatives
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Relatives with RB1 mutation
 
Relatives without RB1 mutation
 
 
 
Ophthlamic screening for future offspring unless negative for parent's mutation
 
 
 
 
Future offspring of affected child require ophthalmic screening
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Ophthalmic screening for children as high risk
 
Ophthalmic screening not required
 
 
The above table is the recommended genetic analysis guidline for families with affected individuals and adopted from Ophthalmology journal[1]

References

  1. 1.0 1.1 1.2 1.3 1.4 Skalet, Alison H.; Gombos, Dan S.; Gallie, Brenda L.; Kim, Jonathan W.; Shields, Carol L.; Marr, Brian P.; Plon, Sharon E.; Chévez-Barrios, Patricia (2018). "Screening Children at Risk for Retinoblastoma". Ophthalmology. 125 (3): 453–458. doi:10.1016/j.ophtha.2017.09.001. ISSN 0161-6420.