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eye diseases, genetic or congenital
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The results are computer generated suggestions to help you find a physician. MEDgle does not recommend any particular type of physician or claim to be complete or accurate in the providers and specialties suggested.
ocular albinism - condition affecting pigmentation of eye
Definition for ocular albinism
http://www.geneclinics.org/profiles/x-oa/
some common symptoms
decreased or absent eye pigment
photophobia
rapid eye movements
some related diagnoses
1 - 1 of
1
diagnoses
Hermansky Pudlak Syndrome
more
do i have 'ocular albinism'?
In addition the following diagnostic tests might be need to help verify the diagnosis:
diagnostic test search results for 'ocular albinism'
1 - 5 of
8
diagnostic tests
vision tests
ocular albinism and vision tests
Electron Microscopy
ocular albinism and Electron Microscopy
Molecular Genetic Studies
ocular albinism and Molecular Genetic Studies
Bleeding time
ocular albinism and Bleeding time
Peripheral blood smear
ocular albinism and Peripheral blood smear
Visual evoked potential (VEP)
ocular albinism and Visual evoked potential (VEP)
Capillary fragility test
ocular albinism and Capillary fragility test
Comprehensive eye exam
ocular albinism and Comprehensive eye exam
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therapeutic procedures for 'ocular albinism'?
Managing or treating a diseases should always be determined by a patients health care provider. Below is a list of associated therapeutic procedures or medications for ocular albinism:
therapeutic procedure search results for 'ocular albinism'
1 - 5 of
7
therapeutic procedures
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Strabismus surgery
ocular albinism and Strabismus surgery
sunglasses
ocular albinism and sunglasses
Eyeglasses
ocular albinism and Eyeglasses
special filter glasses
ocular albinism and special filter glasses
prismatic eyeglasses
ocular albinism and prismatic eyeglasses
eye surgery
ocular albinism and eye surgery
low vision rehabilitation
ocular albinism and low vision rehabilitation
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medications search results for 'ocular albinism'
rankings are computer generated. please consult your health care provider.
web search results for ocular albinism
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1 - 50
- ocular albinism
Ocular albinism type 1 - Wikipedia, the free encyclopedia
Ocular Albinism type 1 (OA1), also called as Nettleship-Falls syndrome, is the ... Albinism may manifest itself as oculocutaneous (OCA) or just ocular (OA) ...
http://en.wikipedia.org/wiki/Ocular_albinism_type_1
en.wikipedia.org
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Ocular albinism - Genetics Home Reference
Ocular albinism is characterized by severely impaired sharpness of vision ... The most common form of ocular albinism is known as the Nettleship-Falls type or ...
http://ghr.nlm.nih.gov/condition=ocularalbinism
ghr.nlm.nih.gov
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summary
Ocular Albinism, X-Linked -- GeneReviews -- NCBI Bookshelf
X-linked ocular albinism (XLOA) is a disorder of melanosome biogenesis leading ... A diagnosis of ocular albinism (OA) is probable in the presence of congenital ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=x-oa
www.ncbi.nlm.nih.gov
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summary
Ocular albinism - Wikipedia, the free encyclopedia
A comprehensive genetic study of autosomal recessive ocular albinism in Caucasian patients" ... Sex-linked ocular albinism displaying typical fundal changes in ...
http://en.wikipedia.org/wiki/ocular%20albinism
en.wikipedia.org
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OA1 mutations and deletions in X-linked ocular albinism.
1998 Apr;62(4):800-9. OA1 mutations and deletions in X-linked ocular albinism. ... X-linked ocular albinism (OA1), Nettleship-Falls type, is characterized by ...
http://www.ncbi.nlm.nih.gov/pubmed/9529334
www.ncbi.nlm.nih.gov
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X-linked ocular albinism: prevalence and mutations--a national study.
X-linked ocular albinism: prevalence and mutations--a national study. Rosenberg T, Schwartz M. ... with proven or presumed X-linked ocular albinism (XLOA) ...
http://www.ncbi.nlm.nih.gov/pubmed/9887374
www.ncbi.nlm.nih.gov
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Ocular albinism - OMIM - Genetic disorder catalog - Genetics Home Reference
... Home Reference condition summary on ocular albinism. ... OMIM topic: Ocular albinism, Nettleship-Falls type. OMIM topic: Ocular albinism with late ...
http://ghr.nlm.nih.gov/condition=ocularalbinism/show/OMIM
ghr.nlm.nih.gov
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summary
Electronystagmographic investigation in X-linked ocular albinism.
Albinism represents the most frequent cause of nystagmus induced by visual ... three and five years with ocular albinism with the aim of identifying the ...
http://www.ncbi.nlm.nih.gov/pubmed/9457752?ordinalpos=22&ito...
www.ncbi.nlm.nih.gov
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Cloning of the gene for ocular albinism type 1 from the distal short ...
Cloning of the gene for ocular albinism type 1 from the distal short arm of ... Ocular albinism type 1 (OA1) is an X-linked disorder characterized by severe ...
http://www.ncbi.nlm.nih.gov/pubmed/7647783
www.ncbi.nlm.nih.gov
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Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is ...
Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected ... GPR143) in a family with the X-linked form of ocular albinism. ...
http://www.ncbi.nlm.nih.gov/pubmed/16550551
www.ncbi.nlm.nih.gov
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X-linked ocular albinism and sensorineural deafness: linkage to Xp22.3.
X-linked ocular albinism with late-onset sensorineural deafness (OASD) is an ... Classical X-linked ocular albinism (without deafness; OA1) has recently been ...
http://www.ncbi.nlm.nih.gov/pubmed/8288253
www.ncbi.nlm.nih.gov
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Multimedia: Albinism (Ocular): Merck Manual Professional
Albinism (Ocular) Ocular albinism is characterized by iris hypopigmentation or translucency (top) ... B. Kaesmann-Kellner (top) and Dr. Robert Machemer (bottom) ...
http://www.merck.com/mmpe/sf/multimedia/Photo2sec10ch123/s/-...
www.merck.com
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Albinism
Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome. Causes ... Another type of albism, called ocular albinism type 1 (OA1), affects only the eyes. ...
http://adam.about.com/HIE/001479.htm
adam.about.com
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Albinism: Causes - MayoClinic.com
Albinism ? Comprehensive overview covers symptoms, causes, treatment, self-care and coping skills. ... X-linked ocular albinism. ...
http://www.mayoclinic.com/health/albinism/DS00941/DSECTION=causes
www.mayoclinic.com
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MedlinePlus Medical Encyclopedia: Albinism
Oculocutaneous albinism; Ocular albinism; Hermansky-Pudlak syndrome ... Another type of albism, called ocular albinism type 1 (OA1), affects only the eyes. ...
http://www.nlm.nih.gov/medlineplus/ency/article/001479.htm
www.nlm.nih.gov
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Mutational analysis of the OA1 gene in ocular albinism.
Ocular albinism type 1 (OA1) is an X-linked disorder, mainly characterized by a ... Albinism, Ocular/genetics* Albinism, Ocular/physiopathology. Amino Acid Sequence ...
http://www.ncbi.nlm.nih.gov/pubmed/12868035
www.ncbi.nlm.nih.gov
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Ocular albinism - Related Gene(s) - Genetics Home Reference
Genetic Conditions > ocular albinism > Related Gene(s) GPR143: G protein-coupled receptor 143 ... Department of Health & Human Services, USA.gov ...
http://ghr.nlm.nih.gov/condition=ocularalbinism/show/Related+Gene(s)
ghr.nlm.nih.gov
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Scanning the ocular albinism 1 (OA1) gene for polymorphisms in ...
Scanning the ocular albinism 1 (OA1) gene for polymorphisms in congenital nystagmus by DHPLC. ... It has been postulated that CN may be a form of ocular albinism. ...
http://www.ncbi.nlm.nih.gov/pubmed/16754205
www.ncbi.nlm.nih.gov
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O - MMCI
MMCI - Methodist Medical Center, methodist hospital, Illinois hospital, ... Ocular albinism. Ocular larva migrans. Ocular melanoma. Ocular motility examination ...
http://mmci2.adam.com/content.aspx?productId=101&alpha=O
mmci2.adam.com
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Wyeth.com | ADAM
Wyeth pharmaceutical company brings health care products, medicines and ... Ocular albinism. Ocular larva migrans. Ocular melanoma. Ocular motility examination ...
http://wyeth.adam.com/content.aspx?productId=101&alpha=O
wyeth.adam.com
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Search Results
Multimedia: Albinism (Ocular): Merck Manual Professional. Albinism (Ocular) Ocular albinism is characterized by iris hypopigmentation or ...
http://www.merck.com/mrksearch/SearchServlet?filtN=professio...
www.merck.com
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O - Ministry Health Care
Ocular albinism (Condition) Ocular larva migrans (Condition) Ocular melanoma (Condition) Ocular motility examination (Medical Test) Oculocutaneous albinism ...
http://ministryhealth.adam.com/content.aspx?productId=26&pid=26&alpha=O
ministryhealth.adam.com
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New insights into ocular albinism type 1 (OA1): Mutations and ...
New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. ... Albinism ocular type 1 (OA1) is an X-linked type of albinism ...
http://www.ncbi.nlm.nih.gov/pubmed/11793467
www.ncbi.nlm.nih.gov
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Albinism
Albinism refers to a group of related conditions. ... can reveal "abnormal wiring" of the visual system in ocular forms of albinism. ...
http://adam.about.com/encyclopedia/001479sym.htm?terms=ocula...
adam.about.com
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Albinism: Symptoms - MayoClinic.com
Albinism ? Comprehensive overview covers symptoms, causes, treatment, self-care and coping skills. ... Albinism and other genetic disorders of pigmentation. ...
http://www.mayoclinic.com/health/albinism/DS00941/DSECTION=symptoms
www.mayoclinic.com
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An Xp22 microdeletion associated with ocular albinism and ichthyosis ...
... microdeletion associated with ocular albinism and ichthyosis: approximation of ... Ocular albinism of the Nettleship-Falls type (OA1) and X-linked ichthyosis (XI) ...
http://www.ncbi.nlm.nih.gov/pubmed/2573275
www.ncbi.nlm.nih.gov
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Oculocutaneous albinism - Wikipedia, the free encyclopedia
"Ocular Manifestations of Albinism", by Dr. Mohammed O. Peracha, at eMedicine, 13 ... Albinism: Ocular albinism (1) · Oculocutaneous albinism (Hermansky-Pudlak ...
http://en.wikipedia.org/wiki/oculocutaneous%20albinism
en.wikipedia.org
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GPR143 - G protein-coupled receptor 143 - Genetics Home Reference
ocular albinism - caused by mutations in the GPR143 gene ... Researchers continue to study why ocular albinism occurs when cells in the ...
http://ghr.nlm.nih.gov/gene=gpr143
ghr.nlm.nih.gov
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EyeNet, How to Assess and Treat Infantile Nystagmus
EyeNet, How to Assess and Treat Infantile Nystagmus, Katie Flickinger, Jeramiah P. Tao ... slit-lamp exam differentiates ocular albinism, optic nerve hypoplasia and ...
http://www.aao.org/publications/eyenet/200511/pearls.cfm
www.aao.org
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Eyes and vision - Genetics Home Reference
OA see ocular albinism. obesity-hypotonia syndrome see Cohen syndrome ... XLOA see ocular albinism. zygoauromandibular dysplasia see Treacher Collins syndrome ...
http://ghr.nlm.nih.gov/ghr/conditionsByCategory/show/eyesandvision
ghr.nlm.nih.gov
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Albinism - Wikipedia
Hyperlinked article discussing genetics, culture, visual problems, pigmentation, and albinism in non-humans.
http://en.wikipedia.org/wiki/Albinism
en.wikipedia.org
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Northside Hospital Medical Referrence Library
Ocular albinism. Ocular larva migrans. Ocular melanoma. Ocular motility examination. Oculocutaneous albinism. Oculoglandular syndrome. Oculomotor palsy. Odynophagia ...
http://northside.adam.com/content.aspx?productId=39&alpha=O
northside.adam.com
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Skin Conditions - Genetics Home Reference
congenital hemidysplasia with ichthyosiform erythroderma and ... ocular albinism. oculocutaneous albinism. oculodentodigital dysplasia. pachyonychia congenita ...
http://ghr.nlm.nih.gov/conditionGroup=skinconditions;jsessio...
ghr.nlm.nih.gov
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Mutations of the P gene in oculocutaneous albinism, ocular albinism ...
... milder syndrome known as autosomal recessive ocular albinism. ... The child with ocular albinism was heterozygous for two different mutations in the P gene. ...
http://www.ncbi.nlm.nih.gov/pubmed/8302318
www.ncbi.nlm.nih.gov
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Metabolic Disorders - Genetics Home Reference
2-methylbutyryl-coenzyme A dehydrogenase deficiency. 3-hydroxy-3-methylglutaryl-coenzyme A ... ocular albinism. oculocutaneous albinism. optic atrophy type 1 ...
http://ghr.nlm.nih.gov/conditionGroup=metabolicdisorders
ghr.nlm.nih.gov
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Great Falls Clinic
Providing a number of clinical services to Great Falls, Montana and the ... Ocular motility examination (Medical Test) Oculocutaneous albinism (Condition) ...
http://gfclinic.adam.com/content.aspx?productId=26&alpha=O
gfclinic.adam.com
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Oculocutaneous Albinism Type 2 -- GeneReviews -- NCBI Bookshelf
The ocular features of all types of oculocutaneous albinism (OCA) and X-linked ... Males with X-linked ocular albinism (OA1) have normal skin and hair pigment, and ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca2
www.ncbi.nlm.nih.gov
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GPR143 - References - Genetics Home Reference
Gene Review: Ocular Albinism, X-Linked ... New insights into ocular albinism type 1 (OA1): Mutations and polymorphisms of the OA1 gene. ...
http://ghr.nlm.nih.gov/gene=gpr143/show/References
ghr.nlm.nih.gov
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Oculocutaneous Albinism Type 4 -- GeneReviews -- NCBI Bookshelf
Characteristic ocular changes found in all types of albinism, including the ... Males with X-linked ocular albinism have normal skin and hair pigment, which is ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca4
www.ncbi.nlm.nih.gov
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Search Results - Genetics Home Reference
Found: ...the most common form of ocular albinism, which is called the Nettleship-Falls... the pathogenesis of ocular albinism with late-onset ...
http://ghr.nlm.nih.gov/ghr/search?query=albinism
ghr.nlm.nih.gov
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Oculocutaneous Albinism Type 2
Characteristic ocular changes found in all types of albinism, including ... Males with X-linked ocular albinism (OA1) have normal skin and hair pigment, and ...
http://www.ncbi.nlm.nih.gov/bookshelf/picrender.fcgi?book=ge...
www.ncbi.nlm.nih.gov
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Talk:Ocular albinism type 1 - Wikipedia, the free encyclopedia
Talk:Ocular albinism type 1. From Wikipedia, the free ... A fact from Ocular albinism type 1 appeared on Wikipedia's Main Page in the Did you know? ...
http://en.wikipedia.org/wiki/Talk:Ocular_albinism_type_1
en.wikipedia.org
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Oculocutaneous Albinism Type 1 -- GeneReviews -- NCBI Bookshelf
The ocular features of all types of oculocutaneous albinism (OCA) and X-linked ... X-linked ocular albinism (OA1) is caused by mutations in the OA1 gene. ...
http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=oca1
www.ncbi.nlm.nih.gov
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Oculocutaneous albinism.
Oculocutaneous albinism (OCA) is a group of inherited disorders of melanin ... Differential diagnosis includes ocular albinism, Hermansky-Pudlak syndrome, ...
http://www.ncbi.nlm.nih.gov/pubmed/17980020
www.ncbi.nlm.nih.gov
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X chromosome - Conditions related to genes on the X chromosome ...
congenital hemidysplasia with ichthyosiform erythroderma and limb defects ... ocular albinism. oculofaciocardiodental syndrome. Opitz G/BBB syndrome ...
http://ghr.nlm.nih.gov/chromosome=X/show/Conditions
ghr.nlm.nih.gov
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Analysis of a terminal Xp22.3 deletion in a patient with six monogenic ...
... monogenic disorders: implications for the mapping of X linked ocular albinism. ... The diagnosis of ocular albinism was confirmed in the patient and his mother, ...
http://www.ncbi.nlm.nih.gov/pubmed/8230160
www.ncbi.nlm.nih.gov
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GPR143 - Related Condition(s) - Genetics Home Reference
Related Condition(s) ocular albinism. Reviewed: July 2007. Published: June 26, 2009. Lister Hill National Center for Biomedical Communications ...
http://ghr.nlm.nih.gov/gene=gpr143/show/Related+Condition(s)
ghr.nlm.nih.gov
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Diseases and Conditions - MayoClinic.com
Free, comprehensive guides on hundreds of diseases and conditions from ... Ocular albinism (See: Albinism) Ocular melanoma (See: Eye melanoma) Ocular migraine ...
http://www.mayoclinic.com/health/DiseasesIndex/DiseasesIndex...
www.mayoclinic.com
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Albinism: Pigmentation Disorders: Merck Manual Professional
Ocular albinism involves abnormal optic tract CNS development manifested by ... intervention for ocular movement disorders. There is no treatment for albinism. ...
http://www.merck.com/mmpe/print/sec10/ch123/ch123b.html
www.merck.com
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Search Results - Genetics Home Reference
ocular albinism condition summary. Found: ...the eye is essential for normal vision. Ocular albinism is characterized... Related genes: GPR143. OPN1MW gene summary ...
http://ghr.nlm.nih.gov/ghr/search?query=vision
ghr.nlm.nih.gov
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