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Related Experiment Video

Updated: Jul 9, 2026

Assessment and Characterization of Hyaloid Vessels in Mice

Assessment and Characterization of Hyaloid Vessels in Mice

Published on: May 15, 2019

Anophthalmia and microphthalmia.

Amit S Verma¹, David R Fitzpatrick

¹MRC Human Genetics Unit, Edinburgh, UK. Amit.Verma@hgu.mrc.ac.uk

Orphanet Journal of Rare Diseases

|November 28, 2007

Summary

Anophthalmia and microphthalmia, affecting eye development, have complex causes including genetics and environment. Diagnosis and management involve multidisciplinary teams for optimal visual and cosmetic outcomes.

Area of Science:

Ophthalmology
Medical Genetics
Developmental Biology

Background:

Anophthalmia (absence of eye) and microphthalmia (small eye) are congenital conditions with a combined birth prevalence up to 30 per 100,000.
These conditions represent a phenotypic continuum and can occur in isolation or as part of a syndrome in one-third of cases.

Purpose of the Study:

To review the complex etiology, diagnosis, and management of anophthalmia and microphthalmia.
To highlight the genetic and environmental factors contributing to these developmental eye abnormalities.

Main Methods:

Review of high-resolution cranial imaging, post-mortem examinations, and genetic studies.
Analysis of identified chromosomal, monogenic, and environmental causes.
Examination of diagnostic approaches including clinical features, imaging, and genetic analysis.

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Grossing of Non-neoplastic Globes, Including Fetal Eyes

Grossing of Non-neoplastic Globes, Including Fetal Eyes

Published on: May 30, 2025

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Assessment and Characterization of Hyaloid Vessels in Mice

Assessment and Characterization of Hyaloid Vessels in Mice

Published on: May 15, 2019

Grossing of Non-neoplastic Globes, Including Fetal Eyes

Grossing of Non-neoplastic Globes, Including Fetal Eyes

Published on: May 30, 2025

Main Results:

Complex etiology involves chromosomal abnormalities (duplications, deletions, translocations), monogenic causes (SOX2, PAX6, OTX2, CHX10, RAX, FOXE3), and environmental factors (infections, vitamin A deficiency, teratogens).
SOX2 and PAX6 mutations are linked to lens induction failure, while OTX2, CHX10, and RAX mutations may affect retinal differentiation.
Diagnosis is feasible pre- and post-natally; genetic counseling is complex due to gene variability.

Conclusions:

Anophthalmia and microphthalmia result from a spectrum of genetic and environmental insults affecting eye development.
Multidisciplinary management is crucial for optimizing vision and cosmesis, with treatment tailored to severity.
Understanding the underlying causes is vital for accurate diagnosis, genetic counseling, and potential future interventions.