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]

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]

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]

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]

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]

(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]

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]