A CASE REPORT OF A NON
VERBAL 23-YEAR-OLD MALE
WITH DOWN SYNDROME
Abstract
Down syndrome is a chromosomal disorder caused by an error in cell
... [Show More] division that results in the
presence of an additional chromosomal 21 material that presents physical anomalies and mental
disabilities. Down syndrome has effects on the developing eye which can impact the proper
development of vision, more likely to have problems with their eyesight. Our patient which we
will refer as "NINI", aged 23, is diagnosed with down syndrome presenting nuclear cataract on his
right eye. He started wearing prescription glasses at the age of 16 years old. His old prescription
at his right eye + 0.50 = - 0.50 cyl X 100 and at his left eye is 0.00 = - 1.00 cyl X 100. His naked eye
visual acuity at far in his right eye is 20/66+1 and his left is 20/66-3. While his naked eye visual acuity
at near in his both eyes is 20/20. His visual acuity with correction at far is 20/40-3 and his left eye
is 20/66. His subjective refraction at his right eye is + 0.75 sph = - 2.25 cyl
X 180 and at his left eye is + 0.50 sph = - 2.25 cyl X 180. After his eye assessment he was given a
2 single vision prescription eyeglasses where one is tinted smoke with UVX and the other is HMC.
Key Words
Down's Syndrome, Non Verbal, Refractive Errors
Introduction
Down syndrome is a genetic disorder caused by a duplication of all or part of chromosome
21, making three copies of the chromosome rather than the usual two. This extra chromosome
causes certain intellectual, developmental, and physical changes in persons with Down
syndrome. Every person born with this condition is different. There are three kinds of Down
syndrome, a) 21 Trisomy has a ninety to ninety five percentage that is characterised by the
presence of a complete third chromosome. This occurs as a result of non disjunction during
meiosis. And while, Translocation has a three to four percentage in which one chromosome
translocate and attaches to another. Lastly, c) Mosaicism has a one percentage of non disjunction
occurrence after cell fertilisation that may results in an individual having cells of two types, which
are normal cells and cells of Down syndrome.
The frequency of Down syndrome is approximately 1 in every 800 births, making it one of
the most common chromosomal abnormalities.
Individuals with Down syndrome are at increased risk for a variety of eye and vision
disorders. Since people with Down’s syndrome are more likely to have problems with their
eyesight. Even if they wear glasses the quality of their vision will be impaired. This is why children
and adults should have regular eye checks. Most need to wear eyeglasses. Often, their optical
prescriptions are in the higher range, meaning that specific frames and lenses are required. More
than 50% of people with Down syndrome have some sort of eye disease ranging from minor tear
duct abnormalities to vision-threatening early-onset cataracts.
Cataracts are a clouding of the lens inside the eye. If cataracts are present from a very
young age, a clear image is not delivered to the child’s brain, so unless the cataracts are surgically
removed, the brain will never “learn” to see properly.
Cataracts that are present very early in a child’s life can result in lifelong poor vision.
Unfortunately, children with Down Syndrome often do not complain about their eye problems,
either because they don’t notice the problem or because they have difficulty communicating
what is wrong. For this reason, early detection and routine visual examination are essential.
Prevalence
According to the World Health Organization, for every 1,000–1,100 births, there is one
case of Down Syndrome worldwide, making it the most common chromosomal disorder. It means
that every year, some 3,000 to 5,000 children are diagnosed with Down Syndrome. Estimates also
place the number of U.S. families affected by DS to about 250,000. In the Philippines, 1 out of 800
babies is born with DS. Although they may not have an optimal quality of life, Down Syndrome
patients and their families can still be successful and happy.
DS by far the most common chromosomal abnormality, affecting 1 in 800 babies. The risk
of having a child with this condition increases with maternal age, rising exponentially after a
woman reaches age 35. [Show Less]