Symptoma

Oculocutaneous Albinism Type 4

OCA4

Conclusions: The present study reports a very rare family with autosomal dominant OCA4 whose diagnosis was confirmed by a mutational analysis. Most family members exhibited mild general hypopigmentation and low-grade foveal hypoplasia. [ncbi.nlm.nih.gov]

Clinical description Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabismus present in the first year of life. Nystagmus is not always present at birth and can develop at 3 to 4 months of age. [orpha.net]

In the present case, MITF expression, as well as TYR, TRP1, and TRP2 protein expression, were all significantly increased in MM cells. [medicaljournals.se]

  • Turkish

    MATP was recently reported in a single Turkish OCA patient as the fourth pathological gene, but no other patients with OCA4 have been reported. [ncbi.nlm.nih.gov]

    Genetics This type of oculocutaneous albinism is one of the more common types found among Japanese and maybe Chinese individuals although it has also been reported in German and Turkish individuals. [disorders.eyes.arizona.edu]

  • Fishing

    […] in b -locus–mutant fish. [ncbi.nlm.nih.gov]

    The basic molecular genetics of fish are known 7, 8 and approximately 70 spontaneous pigmentation mutants have been isolated 9. [doi.org]

    Adult fish also express the B gene and its expression is not restricted to the melanophore lineage (FIG. 5 e ). [google.de]

    High resolution chromosome analysis and fluorescence in situ hybridisation (FISH) using D15S10 (Vysis, Downers Grove, Illinois) as probe showed a karyotype 46,XY,del(15)(q11q13) in the patient. [jmg.bmj.com]

  • Severe Pain

    Several painful oedematous nodules with blisters on the face at first visit. (b) Grey-white irides. (c) A black, firm, well-defined, irregularly-shaped tumour on the back. (d) Size 50 25 mm, with an erythematous plaque within the tumour. [medicaljournals.se]

  • 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]

    View Article PubMed Google Scholar Bassi MT, Schiaffino MV, Renieri A, De Nigris F, Galli L, Bruttini M, Gebbia M, Bergen AA, Lewis RA, Ballabio A: Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. [doi.org]

    Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. [ncbi.nlm.nih.gov]

    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]

  • Retinal Pigmentation

    Due to the hypopigmentation of the retinal pigment epithelium, OCA is usually associated with congenital visual impairment, in addition to an increased risk of skin cancer. [ncbi.nlm.nih.gov]

    Ophthalmologic examination reveals visualization of the choroidal blood vessels, reduced retinal pigment and foveal hypoplasia. [orpha.net]

    The iris has punctate and radial translucency and moderate retinal pigment is present. The skin may darken with sun exposure. [patient.info]

    Clinical manifestations include various degrees of congenital nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retinal pigment epithelium, foveal hypoplasia, reduced visual acuity usually (20/60 to 20/400) and refractive [doi.org]

  • Coarseness of the Skin

    Over many years, exposure of lightly pigmented skin to the sun can result in coarse, rough, thickened skin (pachydermia), solar keratoses (premalignant lesions), and skin cancer. Both basal cell carcinoma and squamous cell carcinoma can develop. [ncbi.nlm.nih.gov]

  • Meningism

    Meningococccal meningitis and complement component 6 deficiency associated with oculocutaneous albinism. Eur J Pediatr. 2005; 164 :177–9. [ PubMed : 15565285 ] Inagaki K, Suzuki T, Ito S, Suzuki N, Fukai K, Horiuchi T, Tanaka T, Manabe E, Tomita Y. [ncbi.nlm.nih.gov]

  • HLA-A2

    AIM-1 has been reported as an EST isolated from melanocytes and melanoma cells and, more recently, as a new antigen on HLA-A2-expressing melanoma cells recognized by T cells (15). [google.de]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

Treatment Treatment Options: There is no treatment for the hypopigmentation. Low vision aids and tinted lenses may help some patients. Exposure to the sun should be limited. [disorders.eyes.arizona.edu]

Treatment of manifestations: Correction of refractive errors with spectacles or contact lenses to improve visual acuity. Strabismus surgery may be considered for cosmetic reasons. [ncbi.nlm.nih.gov]

平成29年9月26日授与 学位規則　第4条第1項 学位記番号 氏 名 学位論文題目 甲博（医）585号 羽田　真郎 Hypoxia-induced angiopoietin-like protein 4 as a clinical biomarker and treatment target for human prostate cancer （低酸素で誘導されるアンギオポエチン様因子4は前立腺癌の臨床的バイオマーカーと治療標的になりうる） 論文と審査結果の要旨はこちら 甲博（医）586号 蔀 由貴 [oita-u.ac.jp]

The geneticin treatment lasted 2-3 days and was repeated intermittently if any fibroblasts or keratinocytes persisted. [doi.org]

Prognosis The disease is not life threatening and usually remains stable after childhood. The medical and social consequences can however have an impact on a patient's daily life. [orpha.net]

In addition, African individuals with albinism tend to have poorer prognosis with skin cancer because of late presentation to care and failure to complete treatment for economic reasons [ Mabula et al 2012 ]. [ncbi.nlm.nih.gov]

Prognosis Lifespan, development, intelligence, and fertility in patients with OCA are not different from unaffected patients. [eyewiki.aao.org]

Prognosis Growth, development and intellectual development in the child are normal. Vision is invariably severely impaired [ 2 ]. A spectrum of structure and function exists in albinism. [patient.info]

Prognosis Lifespan in patients with OCA is not limited, and medical problems are generally not increased compared to those in the general population. As mentioned, skin cancers may occur and regular skin checks should be offered. [doi.org]

Etiology OCA4 is caused by mutations in the membrane-associated transporter protein (MATP) gene, SLC45A2, encoding a transporter protein which is thought to mediate melanin synthesis. [orpha.net]

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 OCA is a group of congenital heterogeneous disorders of melanin biosynthesis in the melanocytes (Figure 3 ). At least four genes are responsible for the different types of OCA (OCA1-4) (Table 1 ). [doi.org]

The etiology of oculocutaneous albinism (OCA) type II: the pink protein modulates the processing and transport of tyrosinase. [ncbi.nlm.nih.gov]

Summary Epidemiology The estimated world prevalence is 1/100,000 but it is more common in Japan. Clinical description Cutaneous hypopigmentation is often visible at birth and signs of nystagmus and strabismus present in the first year of life. [orpha.net]

Epidemiologically, the oculocutaneous albinism has a worldwide estimated prevalence of 1/17,000. 1 Oculocutaneous albinism is associated with mutations in genes involved in melanin production within the melanocytes. 2 Examples of these genes are oculocutaneous [biology-online.org]

Oncology Cooperative Group of the Italian Group for Epidemiologic Research in Dermatology: Improving sun protection behaviour in children: Study design and baseline results of a randomized trial in Italian elementary schools. [karger.com]

Epidemiology [ 2 ] About 1 in 70 people carry a gene for OCA. Approximately 1 in 17,000 people in Europe and the USA have one of the types of albinism, although in some parts of the world it is more common than this. [patient.info]

Epidemiology Albinism can affect people of all ethnic backgrounds and has been extensively studied. Approximately one in 17,000 people have one of the types of albinism [ 1 ]. This suggests that about 1 in 70 people carry a gene for OCA. [doi.org]

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]

In: Klaus SN (ed) Pigment cell pathophysiology of melanocytes. Karger, Basel, p 16 Google Scholar Kowalski E, Kopec M, Wegrz-Ynowicz S, Hurwic M, Budzynski AZ (1967) A lysosomal concept of the platelet release reaction and viscous metamorphosis. [link.springer.com]

In Nordlund JJ, Boissy RE, Hearing VJ, King RA, Ortonne J-P (eds) The pigmentary system: physiology and pathophysiology. [ncbi.nlm.nih.gov]

In The Pigmentary System: Physiology and Pathophysiology (eds J. J. Nordlund, R. E. Boissy, V. J. Hearing, R. A. King and J. P. Ortonne), pp. 553 -575. New York: Oxford University Press. King, R. A., Oetting, W. S., Creel, D. and Hearing, V. [doi.org]

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]

Prevention of secondary complications: Individuals with OCA4 should stay out of the sun from an early age, because cumulative ultraviolet exposure is a major risk factor for skin cancers. [ncbi.nlm.nih.gov]

Heinzerling LM, Dummer R, Panizzon RG, et al: Prevention campaign against skin cancer. Dermatology 2002;205:229–233. [karger.com]

HPS-1 and HPS-4 may also include pulmonary fibrosis, or scarring of lung tissue that prevents the necessary expansion and contraction during breathing. It is believed that this is due to a buildup of fatty ceroid in the lungs. [wikidoc.org]

Complications Protection from the sun is essential to prevent burning and cutaneous malignancies, including basal cell carcinoma, squamous cell carcinoma and malignant melanoma. [patient.info]