Ad
related to: eye anomaly in humans test on skin disease peoplequesthealth.com has been visited by 10K+ users in the past month
- Browse all Quest Tests
Choose from Over 100 Tests.
The Same Quality Tests Doctors Use.
- Women's Health
Choose from Over 75 Tests.
The Same Quality Tests Doctors Use.
- How Our Testing Works
Lab Tests Without Doctor Visit.
Buy Direct, Get Tested, See Result.
- Self Love Sale - 25% Off
Save 25% on Our Most Popular 25 Lab
Tests, Including Health Profiles.
- Vitamin & Nutrition Tests
Explore Our Vitamin Panels.
Get Online Results, Purchase Today.
- Cardiovascular Testing
Know Your Heart Health Risks.
Easy Scheduling, Online Results.
- Browse all Quest Tests
Search results
Results From The WOW.Com Content Network
Peters' (frequently misspelled as Peter's) anomaly is a specific type of mesenchymal anterior segment dysgenesis, in which there is central corneal leukoma, adhesions of the iris and cornea and abnormalities of the posterior corneal stroma, Descemet's membrane, corneal endothelium, lens and anterior chamber.
Albinism is a congenital condition characterized in humans by the partial or complete absence of pigment in the skin, hair and eyes. Albinism is associated with a number of vision defects, such as photophobia, nystagmus, and amblyopia. Lack of skin pigmentation makes for more susceptibility to sunburn and skin cancers.
Consequently, melanosomes in both the skin cells and retina enlarge abnormally. Researchers have ambiguous interpretations on how these macromelanosomes have correlation to vision loss and other eye abnormalities in patients suffering ocular albinism. [7]
Oculocutaneous albinism is a form of albinism involving the eyes , the skin (-cutaneous), and the hair. [1] Overall, an estimated 1 in 20,000 people worldwide are born with oculocutaneous albinism. [1] OCA is caused by mutations in several genes that control the synthesis of melanin within the melanocytes. [2]
The skin may develop grey or brown patches which fade with time. Other symptoms can include hair loss, dental abnormalities, eye abnormalities that can lead to vision loss and lined or pitted fingernails and toenails. Associated problems can include delayed development, intellectual disability, seizures and other neurological problems.
Name OMIM Gene Description Ocular albinism, type 1 (OA1): 300500: GPR143: Also known as Nettleship–Falls syndrome, [4] [5] [6] is the most common variety of ocular albinism. OA1 is usually associated with nystagmus, and difficult to otherwise detect in females; males show more readily observable symptoms.
"Heterochromia iridis" indicates that the patient has two different colored eyes or two colors in the same eyes. [6] "Deaf-mutism": People with the disorder are both deaf and mute. [6] When scientists further investigated the syndrome, they realized that patients exhibited a wider range of symptoms of this disease in different combinations.
Physical examination reveals characteristic symptoms of the condition, especially the abnormalities in the skin surface of newborns. Abnormal findings in physical assessments usually result in employing other diagnostic tests to ascertain the diagnosis. Genetic testing is the most specific diagnostic test for harlequin ichthyosis.