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Review
. 2010 Jan;79(1):3-5.

The iris - a window into the genetics of common and rare eye diseases

Patrick J Morrison  1
Affiliations
Review

The iris - a window into the genetics of common and rare eye diseases

Patrick J Morrison. Ulster Med J. 2010 Jan.

Abstract

Visual examination, without instruments, of the eye allows inspection of the iris, sclera, cornea and, through the iris, some abnormalities of the lens and retina. Several hereditary disorders can easily be recognised by characteristic iris changes. This review discusses changes in the iris, visible lens anomalies, and changes in the cornea surrounding the iris. A genetic diagnosis can help with management of diseases. Some conditions are single gene disorders, some are chromosomal rearrangements, and some are abnormalities of fetal development.

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Figures

Figure 1
Figure 1
NHS evidence ‘normal’ iris.
Figures 2–10
Figures 2–10
From left to right, abnormal irides – see text for diagnoses.
Figures 2–10
Figures 2–10
From left to right, abnormal irides – see text for diagnoses.
Figures 2–10
Figures 2–10
From left to right, abnormal irides – see text for diagnoses.
Figures 2–10
Figures 2–10
From left to right, abnormal irides – see text for diagnoses.
Figures 2–10
Figures 2–10
From left to right, abnormal irides – see text for diagnoses.
Figures 2–10
Figures 2–10
From left to right, abnormal irides – see text for diagnoses.
Figures 2–10
Figures 2–10
From left to right, abnormal irides – see text for diagnoses.
Figures 2–10
Figures 2–10
From left to right, abnormal irides – see text for diagnoses.
Figures 2–10
Figures 2–10
From left to right, abnormal irides – see text for diagnoses.
Figures 11–19
Figures 11–19
From left to right, abnormal irides – see text for diagnoses.
Figures 11–19
Figures 11–19
From left to right, abnormal irides – see text for diagnoses.
Figures 11–19
Figures 11–19
From left to right, abnormal irides – see text for diagnoses.
Figures 11–19
Figures 11–19
From left to right, abnormal irides – see text for diagnoses.
Figures 11–19
Figures 11–19
From left to right, abnormal irides – see text for diagnoses.
Figures 11–19
Figures 11–19
From left to right, abnormal irides – see text for diagnoses.
Figures 11–19
Figures 11–19
From left to right, abnormal irides – see text for diagnoses.
Figures 11–19
Figures 11–19
From left to right, abnormal irides – see text for diagnoses.
Figures 11–19
Figures 11–19
From left to right, abnormal irides – see text for diagnoses.
Figure 20
Figure 20
X-linked cataract.
Figure 21
Figure 21
Epibulbar dermoid overlying the iris.
Figure 22
Figure 22
Rieger anomaly.
Figure 23
Figure 23
Autosomal dominant family tree. Affected cases are shaded.
See this image and copyright information in PMC

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