Oculocutaneous albinism type I or type 1A  is an autosomal recessive skin disease. This subtype of oculocutaneous albinism is caused when the gene for tyrosinase (symbol TYR or OCA1) does not function properly. The location of OCA1 may be written as "11q1.4-q2.1", meaning it is on chromosome 11, long arm, somewhere in the range of band 1, sub-band 4, and band 2, sub-band 1. Since the disorder is autosomal recessive, genetic counseling can be used to determine if both parents are heterozygous for the condition when considering having children. If both parents are heterozygous, their child has a 25% chance of inheriting both recessive copies of OCA1 and having the skin disease.This symptoms in this disease include absence of pigmentation, due to a mutation that affects melanin levels in the eyes, hair, and skin. This rare disease is found in 1 out of 20,000 people around the world, being much more prevalent in Caucasians. There is no known cure for this disease as of present, but there are various ways to manage this disease, including safety around the sun and regular checks for other skin diseases such as skin cancer. Signs and Symptoms
OCA is characterized by the absence of pigmentation caused by the mutation that effects the production of tyrosinase that causes partial or total absence of melanin in the hair, skin, and eyes.
Recombinant human parathyroid hormone, sold under the brand names Preotact and Natpara, is an artificially manufactured form of the parathyroid hormone used to treat hypoparathyroidism. Recombinant human parathyroid hormone is used in the treatment of osteoporosis in postmenopausal women at high risk of osteoporotic fractures. A significant reduction in the incidence of vertebral fractures has been demonstrated.The most common side effects include sensations of tingling, tickling, pricking, or burning of the skin (paraesthesia); low blood calcium; headache; high blood calcium; and nausea. Medical uses
Natpara is indicated as an adjunct to calcium and vitamin D to control hypocalcemia in people with hypoparathyroidism.Preotact was approved by the European Medicines Agency for the treatment of osteoporosis in postmenopausal women at high risk of fractures, but the marketing authorisation has been withdrawn at the manufacturers request. Administration
The recommended dose is 100 micrograms of Preotact administered once-daily as a subcutaneous injection into the abdomen, during 18 months (data support treatment up to 24 months). The injections are given using a specially designed injection device (Preotact(TM)Pen). The PreotactPen is specifically designed to allow osteoporosis patients to administer the injections, despite challenges of vision impairment and limited strength of hands and digits tributable to high age. Patients should receive supplemental calcium and vitamin D during treatment with parathyroid hormone.