Symptoma

Oculocutaneous Albinism Type 3

Rufous Oculocutaneous Albinism

Presently, there are four types of OCA named as OCA1, OCA2, OCA3, and OCA4. OCA3 is more common in African born blacks but rarely found in other ethnic populations. [ncbi.nlm.nih.gov]

Translucency of a punctate and radial nature is present. Nystagmus is present in almost all cases and strabismus is present in nearly half. Visual acuity is in the range of 20/60 to 20/200. [disorders.eyes.arizona.edu]

A Japanese girl was reported with having OCA3 who presented with blond hair and light skin (with a small Mongolian spot), was able to tan and was negative for nystagmus. [rarediseases.info.nih.gov]

The eyes present red reflex on transillumination of the iris, dilution of color of iris, nystagmus and strabismus. Darker-skinned individuals have bright copper-red coloration of the skin and hair. [malacards.org]

  • Photosensitive Skin Rash

    skin rashes Photosensitivity Sensitivity to sunlight Skin photosensitivity Sun sensitivity [ more ] 0000992 Percent of people who have these symptoms is not available through HPO Autosomal recessive inheritance 0000007 Partial albinism Partial absent [rarediseases.info.nih.gov]

  • Erythema

    Sun exposure produces erythema and a burn if the skin has little pigment and is unprotected but may tan well if cutaneous pigment has developed. [edoj.org.eg]

  • Short Arm

    The SLC45A2 gene, also called MATP, located on the short arm of chromosome 5 (5p13.2), encodes a protein, although its exact function is unknown, is likely to be involved in melanin production. [ivami.com]

    Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet. 1995 May;10(1):13-9. O'Donnell FE Jr, Green WR, Fleischman JA, Hambrick GW. X-linked ocular albinism in Blacks. Ocular albinism cum pigmento. [eyewiki.aao.org]

  • Long Arm

    In addition to mutations in TYR, OCA2, TYRP1 and SLC45A2 gene, alterations in another gene called MC1R, located on the long arm of chromosome 16 (16q24.3), can change the appearance of people with oculocutaneous albinism type 2. [ivami.com]

  • Cerebellar Ataxia

    Ataxia Apca Ataxia, Episodic, With Nystagmus Ataxia, Familial Paroxysmal Cacna1a-Related Episodic Ataxia Type 2 Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive Cerebellopathy, Hereditary Paroxysmal Episodic Ataxia, Nystagmus-Associated EA2 CAPA [ukgtn.nhs.uk]

Treatment Treatment Options: No treatment is available for the hypopigmentation. However, precautions against excessive sun exposure are advised. Low vision aids can be helpful. [disorders.eyes.arizona.edu]

Treatment : How to Treat "oculocutaneous albinism type 3"? Albinism cannot be cured but the condition can be improved through treatments that improve vision & measures protecting the eyes from bright lights. [signssymptoms.org]

Treatment Albinism cannot be cured but the condition can be improved through treatments that improve vision, and measures protecting the eyes from bright lights. Success of any treatement depends on the severity and type of the condition. [medigest.uk]

State-of-the-art coverage of key areas such as OCT and all of the newest imaging techniques for the eye, orbit and visual pathways; anti-VEGF treatment for retinopathy of prematurity; and minimally invasive strabismus surgery. [books.google.de]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

[…] tyrosine Genetics inheritance pattern autosomal recessive mutations type 1 chromosome 11 gene encoding tyrosinase type 2 chromosome 15 OCA2 gene encodes small molecule transporters involved in transport of tyrosinase Associated conditions skin cancer Prognosis [medbullets.com]

Correction of refractive errors, protection from sun exposure, educating the parents about the care of the patient, will have better prognosis. [slideshare.net]

Complications Skin cancer, sunburn Reduced visual acuity Social stigma Prognosis Patients with albinism have a normal lifespan. An increased risk of skin cancer exists; however, this is curable. Patients may have children with no complications. [medcaretips.com]

(Please describe) A specific molecular diagnosis can be helpful for prognosis, that is, as to degree of hypopigmentation and risk of visual impairment. [nature.com]

Lyons, both globally recognized leaders, provide authoritative coverage of all the pediatric ophthalmic conditions you’re likely to encounter in practice, including the latest clinical advances in etiology, diagnosis, and medical and surgical management [books.google.de]

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosine. Pigment Cell Res. 2002;15:217. Oetting WS, Gardner JM, Fryer JP, et al. [rarediseases.org]

Etiology OCA3 is caused by a mutation in the tyrosinase-related protein 1, TYRP1, gene located on chromosome 9p23. [rarediseases.info.nih.gov]

(Etiology) Oculocutaneous Albinism is caused by mutation(s) in at least 7 genes involved in the production and distribution of the pigment melanin. [dovemed.com]

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. Pigment Cell Res. 2002 Jun. 15(3):217-24. [Medline]. Traboulsi EI, Green WR, O'Donnel FE Jr. The eye in albinism. [emedicine.medscape.com]

[…] oculocutaneous albinism - Xanthous oculocutaneous albinism Classification (Orphanet): - Inborn errors of metabolism - Rare eye disease - Rare genetic disease - Rare skin disease Classification (ICD10): - Endocrine, nutritional and metabolic diseases - Epidemiological [csbg.cnb.csic.es]

Epidemiology OCA3 has an estimated prevalence of 1/8,500 individuals in Africa. It is rarely seen in other populations. [rarediseases.info.nih.gov]

The epidemiology of visual disability: Studies of visually disabled people in the community. HSRU Report, 28, 136–137. 22. Mohamed, A. F., El-Sayed, N. S., & Seifeldin, N. S. (2010). [springermedizin.de]

J Genet Disor Genet Rep 3:2. doi: 10.4172/2327-5790.1000117 Abstract Molecular Genetic Testing for Carrier- Prenatal Diagnosis and Computational Analysis of Oculocutaneous Albinism Type 1 In India epidemiological-communicable diseases are on the decline [scitechnol.com]

Keywords* Albinism Oculocutaneous; Epidemiology; Ethnic Minorities;Romani peoples; Spain; Inbreeding; Genealogical reconstruction [collantropol.hr]

In The Pigmentary System: Physiology and Pathophysiology, 2nd ed. Nordlund JJ, Boissy RE, Hearing VJ, King RA, Oetting WS, Ortonne J-P, eds. New York, NY: Oxford University Press; 2006:599-613. King RA Hearing VJ, Creel DJ, et al. Albinism. [rarediseases.org]

Pathophysiology of Albinism Melanin is a pigment in the skin that absorbs ultraviolet light from the sun, thereby preventing skin damage. The tanning of the skin normally on sun exposure is due to increased melanin pigment in the skin. [medcaretips.com]

The Hermansky Pudlak Syndrome: Report of three cases and review of pathophysiology and management considerations. Medicine (Baltimore). 1985;64:192-202. 4. [slideshare.net]

Most of these mutations eliminated the activity of tyrosinase, preventing melanin production by melanocytes. These mutations cause a form of oculocutaneous albinism called type 1A (OCA1A). [ivami.com]

Protein coding - D3Z251 - 3' truncation in transcript evidence prevents annotation of the end of the CDS. CDS 3' incomplete Transcript Support Level 3, when transcripts are supported by a single EST only. [ensembl.org]

Hospital for Sick Children Health A-Z Search a complete list of child health articles expand_more View All Drug A-Z Search a list of articles about medications expand_more View All Learning Hubs Browse a complete list of content groups Healthy Living & Prevention [aboutkidshealth.ca]

Tea tree oil : Tea tree oil is purported to have antiseptic properties, and has been used traditionally to prevent and treat infections. [andersondrugathens.com]