Oculocutaneous Albinism

My results indicated that I’m heterozygous to carrying Jacobsen syndrome trait. I’m homozygous to having or passing along with brownish eyes and carrying hypertension (or susceptible to getting it). Jacobsen syndrome is when a

Type O: The genotype is OO. There are no A or B antigens on the blood cell. The antibodies in the blood plasma are A and

Ocular Melanoma: two other names for this is called Uveal Melanoma & Choroidal Melanoma. These are said to be the rarest forms of melanoma which can occur in the eyes.

4. Clear wing, Black eye, and Hairless (c, b, and h) are linked, recessive traits carried on

The symptoms include bilateral, painless, subacute visual failure. The symptoms will not appear until the affected individual develops visual blurring in one eye. The central visual field will be affected in this eye, and 2-3 months later, these symptoms will become apparent in the other eye (Yu-Wai-Man et al., 2011a). There are 3 points at which a mutation in the mtDNA would almost certainly result in LHON. These are m.3460G>A, m.11778G>A and m.14484T>C. This information is known because over 95% of LHON pedigrees are known to harbour one of these mtDNA point mutations. (Yu-Wai-Man et al., 2009a)

The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.

Colour blindness can is often carries the mutated gene on the X chromosomes that it passed 50% of this over to the child, the mother may not have had colour blindness but it would most likely be carried on one of the X chromosomes, If the mother is the carrier and the father doesn’t have colour blindness there is a one in two chance that the son may have the disease while for the daughter there is a one in two chance that she would be the carrier of the disease and there being no chance in her getting it. (National Eye Institution, Accessed 22.08.2015). If both of the Parents are carriers that means that there is a one in four chance that the child would most likely have the disease, one in two that the child is a carrier of the disease or a one in four chance that the child isn’t a carrier of the disease and also doesn’t have the disease although it is most likely that one of the children would end up getting colour blindness if one of the parents happen to have it (National Eye Institution, Accessed

10-15% of retinitis pigmentosa cases are X-linked and they tend to be the most serious as the disease manifests early and progresses rapidly in men (Haddad et al., 2016; Pawlyk et al., 2016). There has been research that shows that some female carriers of X-linked retinitis pigmentosa have been affected by the disease, but the mechanism behind this remains a mystery. The female carriers typically do not manifest symptoms as they have two X-chromosomes and can form barr bodies in which one of the chromosomes is inactivated and the other remains active. The time frame that most X-linked retinitis pigmentosa patients are given to expect complete blindness is typically from age 30-40, although some X-linked retinitis pigmentosa patients have experienced a complete loss of vision much earlier than this (Haddad et al.,

The mutagen of this allele is spontaneous and results in a yellow-brown eye, which varies, from the regular brown eye in the mutation. After a couple days the eye darkens into a garnet color. Testes remain colorless, and the malphigian tubules are pale yellow. Smaller pigment granules are observed in the mutant. This allele is dominant and in chromosome 2. Additionally, the nature of the lesion is caused by the insertion of the 412-transposable element in the molecular structure of the gene in DNA. Besides affecting the eye color, it also creates a decreased sensitivity to chemical’s toxic effects in comparison to the wild type. These toxic effects include inebriation, sedation, sustained damage, developmental defects and death (Campbell and Nash,

According to Jacobs, three or more types of cone pigments are typical among vertebrates. In eutherian mammals, primates are the sole species with three cone pigments. A more varied opsin gene/color vision arrangement is present in New World monkeys. Most of these monkeys have a total of six unique photopigment phenotypes. A male or female homozygous New World monkey can express one of three LWS opsin genes with the SWS gene, which is common in this species, then have any of the three possible combinations of two photopigments.

Patients OCA1A have an absence of melanin, resulting in white hair, including eyelashes and eyebrows. The skin is also white unable to tan. OCA1A Patients develop Their irises are translucent and born light pink or red, but range in color from light blue to almost pink. These symptoms do not change over time, and don’t vary upon race. They have a visual acuity of 20/200 or less (20/20 being normal vision), and have intense photophobia. Patients with OCA1B are normally born with the same symptoms as those with OCA1A, but the hair and skin often develop some pigment over time. Their irises may change from blue to green/brown later in life. They often are born with visual acuity 20/100. There is also a type of OCA1b, known as temperature sensitive albinism, where there is white hair in the warmer areas of the body (such as scalp) and progressively darker hair in the cooler areas of the

Sex-linked disorders are recessive therefore, colorblindness is a sex-linked trait. Color blindness in humans is a mutation carried on the X chromosome.

Red-green colorblindness is usually inherited in an X-linked recessive way and it affects an approximated 6 percent of men in the world. This means that, the disorder is usually passed to the affected persons through the X chromosomes thus making the condition to be experienced more by men than

Albinism is a recessive inherited defect in melanin metabolism in which pigment is absent from the hair, skin, and eyes (oculocutaneous albinism) or just from the eyes (ocular Albinism). Albinos tend to be children of parents who were first cousins.

Albinism is a rare mutation around the world. Those with albinism can also have some beautifully unique features with the