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Related Concept Videos

Pedigree Analysis01:35

Pedigree Analysis

Overview
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
X-linked Traits01:19

X-linked Traits

In most mammalian species, females have two X sex chromosomes and males have an X and Y. As a result, mutations on the X chromosome in females may be masked by the presence of a normal allele on the second X. In contrast, a mutation on the X chromosome in males more often causes observable biological defects, as there is no normal X to compensate. Trait variations arising from mutations on the X chromosome are called “X-linked”.

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Related Experiment Video

Updated: Jun 22, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

[Best's disease--family case report].

Sława Kwiecien1, Magdalena Ulińska, Robert Sulak

  • 1Katedra i Klinika Okulistyki II Wydziału Lekarskiego Warszawskiego Uniwersytetu Medycznego. slawakwiecien@wp.pl

Klinika Oczna
|June 13, 2009
PubMed
Summary

This study details a family with Best disease, a genetic condition affecting vision. Early diagnosis and family-wide screening are crucial for managing this inherited retinal disorder.

Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Diseases

Background:

  • Best disease is an autosomal dominant inherited retinal disorder.
  • Characterized by subretinal yellow material accumulation, pigment epithelium and choroid involvement, and progressive vision loss.
  • Late stages can involve macular scarring and choroidal neovascularization.

Observation:

  • A two-generation family with varying stages of Best disease was studied.
  • The mother presented with late-stage disease (scarring, atrophy).
  • The daughter had decreased visual acuity and subretinal neovascularization, treated successfully with photodynamic therapy.
  • The son was asymptomatic with early signs (subretinal material).

Findings:

  • Demonstrates the diverse clinical presentations of Best disease within a single family.

Related Experiment Videos

Last Updated: Jun 22, 2026

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
07:50

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts

Published on: September 20, 2018

  • Highlights the effectiveness of photodynamic therapy in improving visual acuity in cases with choroidal neovascularization.
  • Emphasizes the presence of subretinal material as an early indicator, even in asymptomatic individuals.

    • Implications:

    • Underscores the importance of comprehensive family screening for early detection of Best disease.
    • Early diagnosis facilitates timely intervention and management, potentially preserving visual function.
    • Understanding disease progression across generations aids in predicting and managing patient outcomes.