Retinoblastoma history and symptoms: Difference between revisions
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'''Retinoblastoma''' is a [[cancer]] of the [[retina]]. Development of this tumor is initiated by [[mutation]]s<ref>{{cite journal |author=Knudson A |title=Mutation and cancer: statistical study of retinoblastoma |journal=Proc Natl Acad Sci U S A |volume=68 |issue=4 |pages=820-3 |year=1971 |pmid=5279gadgqetqer523}}</ref> that inactivate both copies of the ''[[RB1]]'' gene, which codes for the [[retinoblastoma protein]].<ref>{{cite journal |author=Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T |title=A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma |journal=Nature |volume=323 |issue=6089 |pages=643-6 |year= |pmid=2877398}}</ref> | '''Retinoblastoma''' is a [[cancer]] of the [[retina]]. Development of this tumor is initiated by [[mutation]]s<ref>{{cite journal |author=Knudson A |title=Mutation and cancer: statistical study of retinoblastoma |journal=Proc Natl Acad Sci U S A |volume=68 |issue=4 |pages=820-3 |year=1971 |pmid=5279gadgqetqer523}}</ref> that inactivate both copies of the ''[[RB1]]'' gene, which codes for the [[retinoblastoma protein]].<ref>{{cite journal |author=Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T |title=A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma |journal=Nature |volume=323 |issue=6089 |pages=643-6 |year= |pmid=2877398}}</ref> | ||
==Symptoms== | ==Signs and Symptoms== | ||
*[[Leucokoria]](Cat's eye): lack of red reflex of the eye in large tumors, [[retinal detachment]], retrolental mass or [[vitreous opacification]] due to tumor cells '''which is often noticed by the mother or family members'''. | *[[Leucokoria]](Cat's eye): lack of red reflex of the eye in large tumors, [[retinal detachment]], retrolental mass or [[vitreous opacification]] due to tumor cells '''which is often noticed by the mother or family members'''. '''It is the most common presenting finding in children''' | ||
*[[Strabismus]](Lazy eye): disruption of fusional reflex due to loss of central vision from a tumor in the macula. | *[[Strabismus]](Lazy eye): disruption of fusional reflex due to loss of central vision from a tumor in the macula. It is the second most common presenting finding in children. | ||
*[[Rubeosis iridis]]: seen in advanced cases due to extensive tumor necrosis due to ischemia releasing angiogenic factors causing neovascularisation. | *[[Rubeosis iridis]]: seen in advanced cases due to extensive tumor necrosis due to ischemia releasing angiogenic factors causing neovascularisation. | ||
The other rare clinical features are [[Heterochromia]](differences in iris colour), [[Anisocoria]](differences in pupil size),Spontaneous hyphema in the absence of trauma, [[Glaucoma]], [[Pseudohypopyon]](seeding of anterior chamber in endophytic or diffuse infiltrating tumors), Pain(due to glaucoma or inflammation), [[Proptosis]] etc., | The other rare clinical features are [[Heterochromia]](differences in iris colour), [[Anisocoria]](differences in pupil size),Spontaneous hyphema in the absence of trauma, [[Glaucoma]], [[Pseudohypopyon]](seeding of anterior chamber in endophytic or diffuse infiltrating tumors), Pain(due to glaucoma or inflammation), [[Proptosis]] etc., | ||
Emergency referral to an Opthalmologist is warranted when a child presents with Leukocoria or Strabismus. | |||
==References== | ==References== |
Revision as of 14:19, 29 May 2012
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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Overview
Retinoblastoma is a cancer of the retina. Development of this tumor is initiated by mutations[1] that inactivate both copies of the RB1 gene, which codes for the retinoblastoma protein.[2]
Signs and Symptoms
- Leucokoria(Cat's eye): lack of red reflex of the eye in large tumors, retinal detachment, retrolental mass or vitreous opacification due to tumor cells which is often noticed by the mother or family members. It is the most common presenting finding in children
- Strabismus(Lazy eye): disruption of fusional reflex due to loss of central vision from a tumor in the macula. It is the second most common presenting finding in children.
- Rubeosis iridis: seen in advanced cases due to extensive tumor necrosis due to ischemia releasing angiogenic factors causing neovascularisation.
The other rare clinical features are Heterochromia(differences in iris colour), Anisocoria(differences in pupil size),Spontaneous hyphema in the absence of trauma, Glaucoma, Pseudohypopyon(seeding of anterior chamber in endophytic or diffuse infiltrating tumors), Pain(due to glaucoma or inflammation), Proptosis etc.,
Emergency referral to an Opthalmologist is warranted when a child presents with Leukocoria or Strabismus.
References
- ↑ Knudson A (1971). "Mutation and cancer: statistical study of retinoblastoma". Proc Natl Acad Sci U S A. 68 (4): 820–3. PMID 5279gadgqetqer523 Check
|pmid=
value (help). - ↑ Friend S, Bernards R, Rogelj S, Weinberg R, Rapaport J, Albert D, Dryja T. "A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma". Nature. 323 (6089): 643–6. PMID 2877398.