Symptoma

X-Linked Recessive Ocular Albinism

OA1

The documents contained in this web site are presented for information purposes only. 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]

Ocular albinism is a genetic disease associated with the deficiency of melanin pigment in the iris, the colored part of eye, and the retina, the light-sensitive tissue present at the rear end of eye. [ihealthblogger.com]

The macula and fovea become poorly differentiated, with the rods present more in the fovea and the cones distributed away from the fovea. [reviewofoptometry.com]

We observed 21 patients who had apparently no OA1 gene mutations or deletions despite presenting an apparently X-linked form of ocular albinism. [bmcmedgenet.biomedcentral.com]

  • Asymptomatic

    Carrier women, in the vast majority of cases, are asymptomatic. XLOA is less severe in those with dark constitutive skin pigmentation than those who are more lightly pigmented. [orpha.net]

    Ocular abnormalities were not found in other asymptomatic members examined in this family. [journals.plos.org]

    With your wife not being a carrier, every child would be a healthy conductor and asymptomatic. This is the most probable way it goes. Carriers (and they usually don?t know they are carriers!) exist roughly 1:200. [nystagmus.org]

    Female carriers are asymptomatic. [ncbi.nlm.nih.gov]

  • Movement Disorder

    This richly illustrated, full color text covers areas such as: malformations; refractive errors, the cornea, glaucoma and cataracts; retina and the optic nerve; eye movement disorders, and systemic disease of the eye. [books.google.com]

  • Hearing Impairment

    An amplifier with headphone is available for blind and physically handicapped readers who are also certified as hearing impaired. Other devices are provided to aid readers with mobility impairments in using playback machines. [loc.gov]

  • Short Arm

    arm of the X chromosome. ( 7647783 ) Bassi M.T....Ballabio A. 1995 30 Ocular Albinism, X-Linked ( 20301517 ) Pagon R.A....Stephens K. 1993 [malacards.org]

    The gene involved is located on the short arm of the X chromosome. Only recently it's been understood that the OA2 form could be a variant of the OA1. The OA3 form is seen nowadays as a moderate variant of Oculocutaneous albinism type 2. [albinismo.eu]

    Bassi et al. (1995) cloned GPR143 gene for ocular albinism type 1 from the distal short arm of the X chromosome [1]. [journals.plos.org]

    Exp Eye Res. 2005 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. [bmcmedgenet.biomedcentral.com]

    Cloning of the gene for ocular albinism type 1 from the distal short arm of the X chromosome. Nat Genet 1995;10:13-9. 16. Schiaffino MV, d′Addio M, Alloni A, Baschirotto C, Valetti C, Cortese K, et al. [ijo.in]

  • Night Blindness

    Differential diagnosis Differential diagnoses include various types of oculocutaneous albinism (OCA), blue cone monochromatism, congenital stationary night blindness, ocular albinism with sensorineural deafness, cone dystrophy with supernormal rod response [orpha.net]

    It is frequently associated with the protanopic dichromacy, a form of color blindness and nyctalopia, night blindness. Ocular albinism sensorineural deafness (OASD), as the name implies, is accompanied with hearing loss (pp. 444). [ihealthblogger.com]

    It is characterized by a multitude of small, grey or whitish dots scattered throughout the fundus at the level of the pigment epithelium and accompanied by night blindness. [medical-dictionary.thefreedictionary.com]

    Incomplete congenital stationary night blindness is characterized by congenital nystagmus, reduced visual acuity, and moderate night-blindness. [ncbi.nlm.nih.gov]

  • Nystagmus

    (see these terms), and autosomal dominant infantile nystagmus syndrome. [orpha.net]

    Strabismus, nystagmus, photophobia, absent stereoacuity and high refractive errors including hypermetropia are other common features. Vision may be near normal but usually worse, in the range of 20/100 to 20/300. [disorders.eyes.arizona.edu]

    Also in this condition, the eyes show rapid involuntary movement, which is known as nystagmus. Some of the affected individuals also show abnormalities associated with optic nerves that carry the visual information from eyes to the brain. [ihealthblogger.com]

    Visual acuity typically remains stable throughout life, even often slowly improving into the mid-teens. [4] Although nystagmus usually develops within the first 3 months of life, it can diminish with time. [rarediseases.info.nih.gov]

  • Paresis

    Monofixation Syndrome 37834 294 89_Myasthenia Gravis Ocular 3580 298 90_Nasolacrimal Duct Obstruction Congenital 37522 302 91_Nystagmus Congenital 37951 306 92_Oblique Muscle Dysfunctions and Dissociated Vertical Deviation DVD 37831 308 93_Oculosympathetic Paresis [books.google.com]

Diagnostic Workup of Albinism People with a complete absence of melanin from their skin, hair and eyes are easy to be diagnosed clinically with albinism. [lecturio.com]

Management and treatment Annual ophthalmologic examinations are recommended for patients under the age of 16, and after that every 2-3 years. Treatment consists of visual correction with eyeglasses or contact lenses. [orpha.net]

Treatment Treatment Options: Treatment for the ocular symptoms is targeted toward specific problems. Refractive errors are treated with corrective glasses with tinted lenses recommended for the photophobia. [disorders.eyes.arizona.edu]

Treatment of Ocular Albinism Environmental changes and the use of visual aids to magnify the limit of vision are the major considerations included in the treatment of ocular albinism. [ihealthblogger.com]

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]

Prognosis XLOA is not life threatening. The reduced visual acuity and the social consequences of albinism can however have an impact on a patient's daily life. The documents contained in this web site are presented for information purposes only. [orpha.net]

Optokinetic testing may help determine the prognosis. As you spin the OKN drum, normal-sighted individuals develop an optokinetic nystagmus. [reviewofoptometry.com]

Prognosis - Albinism ocular late onset sensorineural deafness Not supplied. [checkorphan.org]

Etiology XLOA is caused by a mutation in the G-protein coupled receptor 143 GPR143 gene located at Xp22.3 that encodes for a membrane glycoprotein found in melanosomes. [orpha.net]

(Etiology) Ocular Albinism is caused by mutations in the G protein-coupled receptor 143 or GPR143 gene. Under normal circumstances, the GPR143 gene codes for a protein in the retina and skin cells. [dovemed.com]

Etiology Wu AL, Wang JP, Tseng YJ, Liu L, Kang YC, Chen KJ, Chao AN, Yeh LK, Chen TL, Hwang YS, Wu WC, Lai CC, Wang NK Retina 2018 May;38(5):1047-1057. doi: 10.1097/IAE.0000000000001629. PMID: 28376043 Mol Med Rep 2014 Jul;10(1):491-5. [ncbi.nlm.nih.gov]

Etiology Biochemical pathway leading to melanin production. Note that Tyrosinase is essential for the first two steps of the pathway. [eyewiki.aao.org]

Summary Epidemiology The estimated birth prevalence is from 1/60,000 to 1/150,000 live male births. Clinical description Nystagmus, sometimes associated with head nodding, usually develops in affected males within the first 3 months of life. [orpha.net]

Albinism Diagnosis Albinism Causes Epidemiology of Albinism [news-medical.net]

License: CC BY 2.0 Epidemiology of Albinism The prevalence of albinism is approximately 1 in 17,000 people in the United States. This gives a figure of about 18,000 people with albinism in the United States. [lecturio.com]

Epidemiologic studies of Europe and United States indicated that genetically caused OCA affects 1 in 17000 newborns, while this figure may be higher in Pakistani society where rate of consanguineous marriages are over 60 % among which the ratio of first [jpma.org.pk]

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]

Pathophysiology of Albinism OCA 1 and 2 are related to mutations in genes responsible for tyrosinase and P protein, respectively. These mutations are not x-linked. [lecturio.com]

Orthotropia is uncommon in albinism—they are often esotropic or exotropic, and their anomalous visual pathway anatomy precludes the development of high-grade stereoacuity. 3 Pathophysiology The mechanism of disease is deficient melanin production. [reviewofophthalmology.com]

Patients should wear hats/caps, clothing, and sunscreen on sun-exposed skin to prevent burning and skin cancer. Prognosis XLOA is not life threatening. [orpha.net]

Mutated gene prevents the protein from reaching the melanosomes to produce sufficient melanin required for pigmentation of skin and eyes. [ihealthblogger.com]

[…] of complications Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Ocular Albinism. [dovemed.com]

This truncates the protein in its second transmembrane domain, completely preventing any function of the OA1 protein. [bmcmedgenet.biomedcentral.com]