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Down syndrome or Down's syndrome, [12] also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. [3] It is usually associated with developmental delays, mild to moderate intellectual disability , and characteristic physical features.
There are many diseases known to cause ocular or visual changes. Diabetes , for example, is the leading cause of new cases of blindness in those aged 20–74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80% of those who have had the disease for 15 years or more.
This is the most typical cause of down syndrome. Mosaic Down syndrome : Only some cells in the person have an extra copy of chromosome 21. This genetic cause is considered rare.
Parinaud's syndrome is a cluster of abnormalities of eye movement and pupil dysfunction, characterized by: Paralysis of upwards gaze: Downward gaze is usually preserved. This vertical palsy is supranuclear, so doll's head maneuver should elevate the eyes, but eventually all upward gaze mechanisms fail. In the extreme form, conjugate down gaze ...
Brushfield spots tend to be obscured by pigmentation of the anterior border layer of the iris in patients with darker irides. Hence, they are much more likely to be observed in children with lightly pigmented eyes. Brushfield spots are more commonly found in Down syndrome patients of European descent than similarly affected children of Asian ...
The chromosomal conditions trisomy 9 and trisomy 21 (Down syndrome) can cause the palpebral fissures to be upslanted, [2] whereas Marfan syndrome can cause a downslant. [3] An increase in vertical height can be seen in genetic disorders such as cri-du-chat syndrome.
Oculomotor nerve palsy or oculomotor neuropathy [1] is an eye condition resulting from damage to the third cranial nerve or a branch thereof. As the name suggests, the oculomotor nerve supplies the majority of the muscles controlling eye movements (four of the six extraocular muscles, excluding only the lateral rectus and superior oblique).
Down syndrome is a genetic condition in which people are born with an extra copy of chromosome 21. This extra copy affects the development of the body and brain, causing a range of physical and mental impairments for the individual. Fragile X syndrome, most frequent among males, is thought to cause autism and intellectual disability.