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Related Concept Videos

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

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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.
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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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Updated: Jun 21, 2026

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia
06:15

Anterior High-Resolution Optical Coherence Tomography in the Diagnosis and Therapeutic Monitoring of Ocular Surface Squamous Neoplasia

Published on: August 9, 2024

Septo-optic dysplasia.

Emma A Webb1, Mehul T Dattani

  • 1Developmental Endocrinology Research Group, Clinical and Molecular Genetics Unit, UCL Institute of Child Health, University College London, London WC1N 1EH, UK.

European Journal of Human Genetics : EJHG
|July 23, 2009
PubMed
Summary
This summary is machine-generated.

This review covers septo-optic dysplasia (SOD) clinical features, recent genetic discoveries explaining its causes, and challenges in managing patients with diverse symptoms.

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Area of Science:

  • Neuroscience
  • Genetics
  • Pediatrics

Background:

  • Septo-optic dysplasia (SOD) is a complex congenital brain malformation.
  • It is characterized by optic nerve hypoplasia, midline brain abnormalities, and pituitary dysfunction.

Purpose of the Study:

  • To review the clinical presentation of SOD.
  • To highlight advances in understanding the genetic basis of SOD.
  • To discuss current management strategies and challenges.

Main Methods:

  • Literature review of clinical studies and genetic research.
  • Synthesis of findings on clinical features, etiology, and management.

Main Results:

  • SOD presents with variable clinical features affecting vision, endocrine function, and development.
  • Significant progress in identifying genetic mutations has improved understanding of SOD's etiology.
  • Management requires a multidisciplinary approach due to phenotypic heterogeneity.

Conclusions:

  • Understanding SOD's genetic underpinnings is crucial for diagnosis and counseling.
  • Personalized management strategies are essential for patients with SOD.
  • Further research is needed to address the challenges in SOD patient care.