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Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Genomic Imprinting and Inheritance02:30

Genomic Imprinting and Inheritance

Diploid organisms inherit genetic material through chromosomes from both parents. Copies of the same gene are known as alleles. In most cases, both alleles are simultaneously expressed and allow various cellular processes to function optimally. If one of the alleles is missing or mutated, the expression of the other allele can compensate; however, this is not true for all genes.
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene01:20

The Retinoblastoma Gene

Tumor suppressor genes are normal genes that can slow down cell division, repair DNA mistakes, or program the cells for apoptosis in case of irreparable damage. Hence, they play an essential role in preventing the proliferation of damaged cells.
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Diabetic Retinopathy01:27

Diabetic Retinopathy

DefinitionDiabetic retinopathy is a microvascular complication of diabetes affecting the retinal blood vessels.Risk FactorsDiabetic retinopathy is present in almost all individuals with type 1 diabetes and more than 60% of those with type 2 diabetes after two decades of disease.The risk increases with poor glycemic control, hypertension, dyslipidemia, smoking, pregnancy, and puberty.Although cataracts and glaucoma are also more frequent in people with diabetes, retinopathy remains the leading...

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Related Experiment Video

Updated: Jul 11, 2026

Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice
07:55

Establishment and Propagation of Human Retinoblastoma Tumors in Immune Deficient Mice

Published on: August 4, 2011

Retinoblastoma with an unusual presentation in a child with polydactyly. Clinical associations and genetic

I Tsinopoulos1, V Papadopoulou, A Papandroudis

  • 1Aristotle University, Medical School, Eye Clinic, Thessaloniki, Greece. galtsin@otenet.gr

Acta Ophthalmologica Scandinavica
|February 13, 2001
PubMed
Summary

This case study highlights a rare presentation of retinoblastoma in an infant with polydactyly. Early diagnosis and treatment are crucial for managing this childhood intraocular malignancy.

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Reconstruct Human Retinoblastoma In Vitro
06:52

Reconstruct Human Retinoblastoma In Vitro

Published on: October 11, 2022

Area of Science:

  • Ophthalmology
  • Pediatric Oncology
  • Genetics

Background:

  • Retinoblastoma is the most common primary intraocular cancer in children.
  • Rarely, it can manifest with iris white spots and pseudohypopyon.

Observation:

  • An 11-month-old infant presented with polydactyly and a rare clinical presentation of retinoblastoma.
  • Diagnostic workup included anterior segment examination, fundoscopy, ultrasound, and MRI.
  • The case was classified as Reese Ellsworth group 5, necessitating enucleation.

Findings:

  • Pathology confirmed choroidal and ciliary body invasion.
  • The patient received subsequent chemotherapy.
  • The retinoblastoma gene (RB1) is located on chromosome 13q14.

Implications:

  • This case underscores the importance of recognizing unusual retinoblastoma presentations.
  • Investigating potential links between genetic factors, polydactyly, and retinoblastoma is warranted.
  • Further research into germinal mutations in unilateral retinoblastoma cases is suggested.