These notes introduce the abnormal development of the eye and vision associated structures.
Anophthalmia (absence of an eye) and microphthalmia (small eye within the orbit) have a combined birth prevalence of approximately 30 per 100,000 population. (More? Verma AS, Fitzpatrick DR., 2007)
Genetic factors include developmental transcription factors required for inductive/developmental events in the structure of the eye and retina development.
Environmental factors include gestational-acquired infections, maternal vitamin A deficiency, smoking, X-ray exposure, solvent misuse and thalidomide exposure.
Page Links: Introduction | Australian Statistics 1981-1992 | World Statistics | Some Recent Findings | Anophthalmia | Microphthalmia | Bardet-Biedl Syndrome | Developmental Genes | Development Overview | Components of Eye Formation | References | Glossary
Evans AL, Gage PJ. Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Hum Mol Genet. 2005 Nov 15;14(22):3347-59.
"Heterozygous mutations in the homeobox gene, PITX2, result in ocular anterior segment defects and a high incidence of early-onset glaucoma."
Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet. 2000 Aug;25(4):397-401.
"We report here the mapping of a human microphthalmia locus on chromosome 14q24.3, the cloning of CHX10 at this locus and the identification of recessive CHX10 mutations in two families with non-syndromic microphthalmia (MIM 251600), cataracts and severe abnormalities of the iris. ...highly conserved arginine residue in the DNA-recognition helix of the homeodomain is replaced by glutamine or proline"
Anophthalmia is clinical description for the absence of an eye. Gene mutation of SOX2, a dvelopmental transcription factor, has been associated with this condition.
Search PubMed: anophthalmia
Microphthalmia is clinical description for the presence of a small eye within the orbit and occurs in up to 11% of blind children.
Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet. 2000 Aug;25(4):397-401.
Search PubMed: microphthalmia
(BBS) is an abnormality with triallelic inheritance and is characterized by a range of multisystem abnormalities incliuding postnatal developmental blindness.
(More? OMIM - Bardet-Biedl syndrome | GeneReviews - Bardet-Biedl syndrome)
Search PubMed: Bardet-Biedl syndrome
The following developmental genes have been identified as having a role in malformations of the eye:
CHX10 - autosomal recessive syndrome of microphthalmia/anophthalmia with iris colobomas and cataracts
EYA1, EYA2, EYA3
FOXE3 - lens agenesis
Otx2
Pitx2 - (neural crest) required for optic stalk and ocular anterior segment
Pax6 - cause failure of lens induction
SIX4, SIX6
Sox2 - cause failure of lens induction
Sweden | United Kingdom | USA California |
Sweden
(More? Källén B, Tornqvist K., 2005)
United Kingdom - England
(More? Dolk H, etal., 1998)
USA California
(More? Shaw GM, etal., 2005)
OMIM List of Entries (1999, uppercase entry is a specific record)
surface ectoderm | neural crest | neural ectoderm | blood vessels | perioptic mesoderm | hyaloid cavity
Modified from The Anatomical Basis of Mouse Development Kaufman and Bard, 1999 Academic Press
Reviews
Verma AS, Fitzpatrick DR. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007 Nov 26;2:47.
Cvekl A, Tamm ER. Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases. Bioessays. 2004 Apr;26(4):374-86.
Articles
Evans AL, Gage PJ. Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Hum Mol Genet. 2005 Nov 15;14(22):3347-59.
Källén B, Tornqvist K. The epidemiology of anophthalmia and microphthalmia in Sweden. Eur J Epidemiol. 2005;20(4):345-50.
Shaw GM, Carmichael SL, Yang W, Harris JA, Finnell RH, Lammer EJ. Epidemiologic characteristics of anophthalmia and bilateral microphthalmia among 2.5 million births in California, 1989-1997. Am J Med Genet A. 2005 Aug 15;137(1):36-40.
Ferda Percin E, Ploder LA, Yu JJ, Arici K, Horsford DJ, Rutherford A, Bapat B, Cox DW, Duncan AM, Kalnins VI, Kocak-Altintas A, Sowden JC, Traboulsi E, Sarfarazi M, McInnes RR. Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet. 2000 Aug;25(4):397-401.
Dolk H, Busby A, Armstrong BG, Walls PH. Geographical variation in anophthalmia and microphthalmia in England, 1988-94. BMJ. 1998 Oct 3;317(7163):905-9;
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These notes introduce the development of the eye.
This page is currently under development (this notice removed when complete).
If you have not studied vision development before, there is a set of Science Lecture (2004) slides on Vision Development, an overview of developmental timing and a text overview.
Please email Dr Mark Hill if you wish to make a comment about this current project.
