Question
| A. |
Buphthalmos |
| B. |
Hurlers Syndrome |
| C. |
Galactosemia |
| D. |
Cataract |
|
Correct Answer � A Explanation |
 |
Primary congenital glaucoma (PCG) is a rare disease due to genetically-determined abnormalities in the trabecular meshwork and anterior chamber angle resulting in elevated intraocular pressure (IOP), without other ocular or systemic developmental anomalies. Other terms have been used previously to describe this entity, including trabeculodysgenesis, goniodysgenesis and primary infantile glaucoma, however the term PCG replaces these in the 2013 International Classification of Childhood Glaucoma. There are three variants based on the age of presentation as follows:
● newborn onset (0-1 month)
● infantile onset (>1-24 months)
● late onset or late-recognized (>24 months)
● spontaneously arrested cases (very rare, classic findings of eye stretching including Haabstriae with normal IOP; must follow as glaucoma suspects nonetheless)
PCG commonly presents between the ages of 3-9 months, but the most severe form is the newborn onset. Elevated IOP is associated with the classic “triad” of symptoms (photophobia, epiphora and blepharospasm), which occurs due to rapid expansion of the child’s eye causing buphthalmos (Greek = “ox eye”), corneal enlargement, horizontal or oblique breaks in Descemet’s membrane (Haabstriae) and subsequent corneal edema and opacification.
Clinical Features of following:
A. Buphthalmos:
Buphthalmos refers to the enlargement of the eyeball in infancy and childhood, most commonly due to congenital glaucoma.
Features include:
● Enlarged eyeball.
● Corneal edema and haziness.
● Increased intraocular pressure.
● Breaks in the Descemet’s membrane, leading to Haab’s striae.
● Enlargement of the corneal diameter.
● Deep anterior chamber.
● Optic nerve damage.
● Photophobia, excessive tearing, and blepharospasm.
B. Hurler’s Syndrome (Mucopolysaccharidosis type I):
Hurler’s syndrome is a genetic disorder in which the body lacks the enzyme needed to break down complex sugars.
Features include:
● Coarse facial features.
● Clouding of the cornea.
● Enlarged liver and spleen.
● Abnormal bone structure, including a protruding breastbone and a thickened skull.
● Mental retardation.
● Restricted joint movement.
● Heart valve abnormalities.
● Hearing impairment.
● Respiratory problems.
C. Galactosemia:
Galactosemia is a genetic disorder that affects the body’s ability to process the simple sugar galactose.
Features include:
● Jaundice shortly after birth.
● Vomiting after consuming milk-based formulas.
● Lethargy.
● Failure to thrive.
● Liver enlargement.
● Cataracts.
● Intellectual disability.
● Speech difficulties.
● Ovarian failure in females.
D. Cataract:
A cataract is a clouding of the lens in the eye, leading to a decrease in vision.
Features include:
● Blurred or cloudy vision.
● Colors may appear faded.
● Glare from lights.
● Poor night vision.
● Double vision in one eye.
● Frequent changes in eyeglass or contact lens prescription.
