Nobody downloaded yet

Oculocutaneous Albinism - Literature review Example

Comments (0) Cite this document
Summary
Any health illness that is caused due to abnormalities in genes or chromosomes is known as genetic disorder. Genetic disorder may be heritable or non-heritable. Genetic disorders can affect any system of the body including skin…
Download full paperFile format: .doc, available for editing
GRAB THE BEST PAPER96.2% of users find it useful
Oculocutaneous Albinism
Read TextPreview

Extract of sample "Oculocutaneous Albinism"

Download file to see previous pages Albinism is a typical hereditary skin disease with varied clinical presentation and inheritance. It is mostly present from birth and increases the risk of cancer. It is not curable and there is no specific treatment. It can be a part of syndromes which cause bleeding diathesis and recurrent infections (Okulicz, 2002). In this article, a specific type of albinism, the oculocutaneous type will be discussed. Albinism Albinism is a group of disorders that are hereditary in nature and are related to abnormality in the synthesis or distribution of melanin (Okulicz, 2002). The abnormality of pigmentation manifests in eyes with or without involvement of skin and hair (Park et al, 2012). Thus, clinically, there are 2 categories of albinism. They are ocular albinism where in eyes are involved and skin involvement is either absent or minimal, and oculocutaneous albinism in which skin and eyes are involved. Oculocutaneous albinism may be defined as "a group of congenital heterogeneous disorders in which there is either complete or partial absence of pigment in the skin, hair and eyes because of the absence of or a defect in an enzyme involved in the production of melanin" (Park et al, 2011). In both the conditions, the primary morbidity is related to the eye. The pattern of inheritance in albinism is variable. While the ocular albinism is through autosomal recessive or sex-linked inheritance, oculo-cutaneous albinism is autosomal recessive (Park et al, 2012). ...
In patients with Hermansky-Pudlak syndrome, easy bruising is seen and in those with Chediak-Higashi syndrome, recurrent infections are noted. In X-linked ocular albinism, decreased hearing is seen (Okulicz, 2002). As far as discoloration of eyes, skin and hair is concerned, the range of depigmentation is variable and depends on the type of albinism. The color of the iris is usually blue and can even be brown. The iris will have transillumination defects. The fundus also, in general, is hypopigmented. To broadly classify, there are 2 forms of albinism. The classification is based on the tyrosinase hair bulb incubation test which differentiates between the tyrosinase-positive and tyrosinase-negative forms. In those who are tyrosinase-positive, some degree of production of pigments occurs. In those who are tyrosinase-negative, there is absolutely no pigment production (Okulicz, 2002). Oculocutaneous albinism There are four types of oculocutaneous albinism or OCA (Okulicz, 2002). OCA type 1A is the classic tyrosinase negative type of OCA. In this condition, the infant is born with blue-grey irides, pink colored skin, white hair and predominant red reflex (Wei et al, 2011). The individuals have manifestations of the defects of eye as discussed above. They never develop pigmented lesions like freckles, naevi or lentigines. Hair becomes yellow with age due to denaturation of the keratin following exposure to ultraviolet light. In type1B, the presentation features at birth are similar to those in type 1A. However, as the age advances, the hair color darkens to brown color. The skin can get tanned on exposure to sunlight and can even develop pigmented lesions like naevi and freckles. The ...Download file to see next pagesRead More
Cite this document
  • APA
  • MLA
  • CHICAGO
(“Oculocutaneous Albinism Literature review Example | Topics and Well Written Essays - 1000 words”, n.d.)
Retrieved de https://studentshare.org/biology/1469972-oculocutaneous-albinism
(Oculocutaneous Albinism Literature Review Example | Topics and Well Written Essays - 1000 Words)
https://studentshare.org/biology/1469972-oculocutaneous-albinism.
“Oculocutaneous Albinism Literature Review Example | Topics and Well Written Essays - 1000 Words”, n.d. https://studentshare.org/biology/1469972-oculocutaneous-albinism.
  • Cited: 0 times
Comments (0)
Click to create a comment or rate a document

CHECK THESE SAMPLES OF Oculocutaneous Albinism

Investigation of Human Disease

...Syndrome Nemaline Myopathy Nephrogenic Diabetes Insipidus Neuroferritinopathy Neurofibromatosis 1 Neurofibromatosis 2 Neuronal Ceroid-Lipofuscinoses Nevoid Basal Cell Carcinoma Syndrome Niemann-Pick Disease Type C Nijmegen Breakage Syndrome Nonsyndromic Hearing Loss and Deafness, DFNA3 Nonsyndromic Hearing Loss and Deafness, DFNB1 Nonsyndromic Hearing Loss and Deafness, Mitochondrial Noonan Syndrome OTOF-Related Deafness Ocular Albinism, X-Linked Oculocutaneous Albinism Type 1 Oculocutaneous Albinism Type 2 Oculocutaneous Albinism Type 4 Oculopharyngeal Muscular Dystrophy Optic Atrophy Type 1 Oral-Facial-Digital Syndrome...
6 Pages(1500 words)Essay

OCA2 Gene - Hair Color

...Task OCA2 Gene and Hair Color Introduction Melanocytes, which are melanin-secreting cells, are often in charge of the color of the skin, and affect the color of the eyes, skin and hair. Hair has a protein Keratin and is arranged in three different layers. The hair color is in turn determined by melanocytes amount in follicles and their nature. Hair color differences can be brought about either by the quantity of melanin in the hair or diverse synthesis of either brown melanin or red/yellow melanin. The OCA2 gene is also known as Oculocutaneous albinism II or the P gene is responsible for the manufacture of a protein known as the P protein contained in the melanocytes. I will analyze the...
3 Pages(750 words)Essay

Methodology for albinism

...?Oculocutaneous albinism Introduction Oculocutaneous is a type of albinism that involves the eyes, skin and also the hair. The other type of albinismis ocular albinism in which the abnormality lies only in the eyes. Skin and hair are spared of abnormality. The disease is hereditary in nature and occurs due to abnormal distribution or synthesis of melanin, a protein which is responsible for pigmentation of the eyes, hair and skin. In the eyes, melanin is present in the iris and retina. (Okulicz, 2002). Melanin synthesis may be completely or partially absent or the distribution can be abnormal. The condition is defined as "a group of congenital heterogeneous disorders in which there is either complete or partial absence of pigment... in the...
4 Pages(1000 words)Essay

Medical genetics

...?QS1. OCULOCUTANEOUS ALBINISM http asia.ensembl.org/Homo_sapiens/Transcript/Exons?db=core;g=ENSG00000077498;r=11:88910620-89028927;t=ENST00000263321 Oculocutaneous albinism is a rare genetic problem. It is an autosomal recessive disorder. 1 in 20,000 people are born with this disorder. The condition affects Oculocutaneous albinism is categorized into 4 different types (Types I, Type II, Type III and Type IV) and affects people from different ethnic groups as well as from different geographical regions. Types I and II are most common. Americans and African Americans suffer mostly from Type II, while Type III is prevalent among South...
11 Pages(2750 words)Essay

Health education

4 Pages(1000 words)Research Paper

Review on oculocutaneous

...A recent study that was carried out by a list of researchers on Oculocutaneous albinism has revealed a lot of insightful information on this condition; the research was titled “Molecular genetic studies and delineation of the oculocutaneous albinism phenotype in the Pakistani population” (Shaikh and Ahmed). Oculocutaneous albinism (OCA) is a condition/disorder in humans that is characterized by loss of human phonotypical traits such as pigmentation in the eyes, skin and hair; Oculocutaneous albinism is said to be associated with inherited gene mutations. This disorder is thought to originate from...
3 Pages(750 words)Book Report/Review

Synesthesia

...by Isaac Newton, and Leibniz recounted the case of another blind man who understood scarlet by a trumpet’s sound. In 1710, another case of a blind man who had experiences of colored visions by responding to sounds was reported by an English ophthalmologist, Thomas Woolhouse. Castel noticed the same relationship as Newton in 1735 and built, presumably, the first color organ in the world. George Sachs developed the first medical platform for scientific reports on synesthesia in 1812, where he described his own experience with the condition in his PhD dissertation, and it was also the topic’s most approved account (Ward, 2008). He gave a report about his colored vowels, essentially about his albinism, and a depiction of...
3 Pages(750 words)Essay

Winter Olypmic Games - Snowboard Halfpipe

...position [gold] award in the just concluded 2014 winter Olympics, Kelly Gallagher was the female gold winner in the super giant skiing category. As Davies (2014) describes her win, it is a once in a lifetime occurrence in that the 28 year old United Kingdom athlete is visually impaired. Her condition, known as Oculocutaneous Albinism is as a result of lacking a body pigment which results in excess light entering her eyes and affecting her skin. This is the first gold in the UK since it began participating in the sport. When it might seem like the participants in these sports are overly conversant with how it works, Howell (2012) puts it in black and white that most of them do not understand the concept...
10 Pages(2500 words)Research Paper

Human variation

... can be classified in terms of black skin complexion, white skin complexion, and light colour complexion among other methods. In addition to that, categorisation can be based on the pigmentation of the skin for instance skin with melanin or one which lacks, in other words, albinism. References Stanford, Craig B., John S. Allen, and Susan C. Antón. Exploring biological anthropology: the essentials. 2nd ed. Upper Saddle River, NJ: Prentice Hall, 2010. Print.... Assignment Describe the difference between the traditional folk’s taxonomy of race, continental distribution and the cline detailed in the figure provided which is emphasised in a clinal approach: variation within or between the categorical races? How do continental categorises...
3 Pages(750 words)Assignment

Importance of Human Skin Pigmentations

...who have less exposure to the UVB rays from the sun must take vitamin D supplement. The skin is the largest organ and very important for the survival of human beings. Its protective nature to the other body organs and its pigmentation matters a lot in our health. Melanin is therefore very crucial for healthy individuals and where it lacks such as the people with albinism, medical attention is mandatory to prevent skin disorders and cancers. Skin pigmentation is very important in human bodies especially those living in hot regions such as the African continent. The main functions of melanin are the absorption of the ultraviolet rays from the sun that has a damaging effect by causing diseases such as the skin cancer. ...
2 Pages(500 words)Essay
sponsored ads
We use cookies to create the best experience for you. Keep on browsing if you are OK with that, or find out how to manage cookies.

Let us find you another Literature review on topic Oculocutaneous Albinism for FREE!

Contact Us