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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.
Depending on the severity of accompanying health problems, an individual with Down syndrome can expect to live past age 60. Down Syndrome Treatment There is no way to prevent or cure Down syndrome.
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 ...
Keratoconus (KC) is a disorder of the eye that results in progressive thinning of the cornea. [3] This may result in blurry vision, double vision, nearsightedness, irregular astigmatism, [4] and light sensitivity leading to poor quality-of-life.
Ataxia telangiectasia (Louis–Bar syndrome) Encephalotrigeminal angiomatosis (Sturge–Weber syndrome) (encephalofacial cavernous hemangiomatosis) Neurofibromatosis (von Recklinghausen's disease) Tuberous sclerosis (Bourneville's syndrome) Wyburn–Mason syndrome (racemose hemangiomatosis)
Visual disturbances can occur due to the eye muscle imbalance after orbital mobilization. Ptosis and diplopia can also occur postoperatively, but this usually self-corrects. A quite difficult problem to correct postoperatively is canthal drift, which can be managed best by carefully preserving the canthal tendon attachments as much as possible.
Examples of chromosome abnormalities associated with cataracts include 1q21.1 deletion syndrome, cri-du-chat syndrome, Down syndrome, Patau's syndrome, trisomy 18 (Edward's syndrome), and Turner's syndrome, and in the case of neurofibromatosis type 2, juvenile cataract on one or both sides may be noted.
Sixth nerve palsy, or abducens nerve palsy, is a disorder associated with dysfunction of cranial nerve VI (the abducens nerve), which is responsible for causing contraction of the lateral rectus muscle to abduct (i.e., turn out) the eye. [1]