Molecular biology of myopia.

Frank Schaeffel, Perikles Simon, Marita Feldkaemper, Sibylle Ohngemach, Robert Williams

Research output: Contribution to journalReview article

25 Citations (Scopus)

Abstract

Experiments in animal models of myopia have emphasised the importance of visual input in emmetropisation but it is also evident that the development of human myopia is influenced to some degree by genetic factors. Molecular genetic approaches can help to identify both the genes involved in the control of ocular development and the potential targets for pharmacological intervention. This review covers a variety of techniques that are being used to study the molecular biology of myopia. In the first part, we describe techniques used to analyse visually induced changes in gene expression: Northern Blot, polymerase chain reaction (PCR) and real-time PCR to obtain semi-quantitative and quantitative measures of changes in transcription level of a known gene, differential display reverse transcription PCR (DD-RT-PCR) to search for new genes that are controlled by visual input, rapid amplification of 5' cDNA (5'-RACE) to extend the 5' end of sequences that are regulated by visual input, in situ hybridisation to localise the expression of a given gene in a tissue and oligonucleotide microarray assays to simultaneously test visually induced changes in thousands of transcripts in single experiments. In the second part, we describe techniques that are used to localise regions in the genome that contain genes that are involved in the control of eye growth and refractive errors in mice and humans. These include quantitative trait loci (QTL) mapping, exploiting experimental test crosses of mice and transmission disequilibrium tests (TDT) in humans to find chromosomal intervals that harbour genes involved in myopia development. We review several successful applications of this battery of techniques in myopia research.

Original languageEnglish (US)
Pages (from-to)295-307
Number of pages13
JournalClinical & experimental optometry : journal of the Australian Optometrical Association
Volume86
Issue number5
DOIs
StatePublished - Jan 1 2003

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Myopia
Molecular Biology
Genes
Polymerase Chain Reaction
Refractive Errors
Quantitative Trait Loci
Human Development
Oligonucleotide Array Sequence Analysis
Northern Blotting
Reverse Transcription
In Situ Hybridization
Real-Time Polymerase Chain Reaction
Animal Models
Complementary DNA
Genome
Pharmacology
Gene Expression
Growth
Research

All Science Journal Classification (ASJC) codes

  • Ophthalmology
  • Optometry

Cite this

Molecular biology of myopia. / Schaeffel, Frank; Simon, Perikles; Feldkaemper, Marita; Ohngemach, Sibylle; Williams, Robert.

In: Clinical & experimental optometry : journal of the Australian Optometrical Association, Vol. 86, No. 5, 01.01.2003, p. 295-307.

Research output: Contribution to journalReview article

Schaeffel, Frank ; Simon, Perikles ; Feldkaemper, Marita ; Ohngemach, Sibylle ; Williams, Robert. / Molecular biology of myopia. In: Clinical & experimental optometry : journal of the Australian Optometrical Association. 2003 ; Vol. 86, No. 5. pp. 295-307.
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