October 13, 2010

Q&A: Concerning Aniridia

Aniridia is an eye disorder characterized by a complete or partial absence of the colored part of the eye (the iris). These iris abnormalities may cause the pupils to be abnormal or misshapen. Aniridia can cause reduction in the sharpness of vision (visual acuity) and increased sensitivity to light (photophobia).

This article is for Medical Students & Professionals
This is a Question & Answer revision article designed for medical students and professionals preparing for the PLAB, MRCP or USMLE examinations. They are based on actual questions from these examinations. You may find the Anatomy Of The Eye article more useful, or one of our many articles on Diseases & Conditions, Medical Syndromes, Health & Wellness or Home Remedies.
In this article:
Aniridia associations
MCQ: clinical scenario
MCQ: answer
MCQ: explanation

Aniridia associations

People with aniridia can also have other eye problems. Increased pressure in the eye (glaucoma) typically appears in late childhood or early adolescence. Clouding of the lens of the eye (cataracts), occur in 50 percent to 85 percent of people with aniridia. In about 10 percent of affected people, the structures that carry information from the eyes to the brain (optic nerves) are underdeveloped. Individuals with aniridia may also have involuntary eye movements (nystagmus) or underdevelopment of the region at the back of the eye responsible for sharp central vision (foveal hypoplasia). Many of these eye problems contribute to progressive vision loss in affected individuals. The severity of symptoms is typically the same in both eyes.

Rarely, people with aniridia have behavioral problems, developmental delay, and problems detecting odors.

MCQ: clinical scenario

Aniridia is associated with:

a) Sickle cell anemia
b) Alport's syndrome
c) Ureteric lithiasis
d) Goodpasture's syndrome
e) Systemic lupus erythematosus
f) Henoch-Schonlein purpura
g) Postinfectious glomerulonephritis
h) Hemolytic-uremic syndrome
i) Wilm's tumour
j) IgA nephropathy

MCQ questions & answers on medicalnotes.info

MCQ: answer

The correct answer is I

MCQ: explanation

The syndromes associated with Wilms tumor are marked by the presence of aniridia, partial or complete hemihypertrophy, and genitourinary abnormalities, such as hypospadias and cryptorchidism.

Reference(s)
1). MedlinePlus: Aniridia. Available online: https://medlineplus.gov/genetics/condition/aniridia/

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