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Albinism
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What is albinism?
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What are
the typical findings of this condition?
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What diagnostics are done for patients considered to have albinism?
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Can
anything be done to improve the visual acuity?
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What is albinism?
Albinism is the absence
of melanin pigment that can occur systemically (oculocutaneous) or
primarily involving the eyes (ocular).
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What are the
typical findings of this condition?
Oculocutaneous albinism can be divided into two types,
tyrosinase-positive and tyrosinase-negative, using hair root studies.
Tyrosinase is an enzyme responsible for converting tyrosine to melanin.
The eye findings associated with oculocutaneous albinism include poor
visual acuity, usually 20/80 to 20/400, nystagmus, hypopigmentation of
the iris with transillumination defects, macular hypoplasia, and
hypopigmented fundus. The poor visual acuity is due to macular
hypoplasia and “miswiring” of the optic neurons in the chiasm.
Tyrosinase-positive oculocutaneous albinism shows progressive increased
pigmentation, as they are bale to produce melanin. Tyrosinase- negative
oculocutaneous albinism is a severe hypopigmentation disorder that tends
to be static and is associated with poorer visual acuity and legal
blindness. Both positive and negative oculocutaneous albinism are
inherited as autosomal recessive traits.
Ocular albinism is
hypopigmentation that is localized to the eye. Patients with this
condition may have brown or dark hair and will not look like the typical
patient with albinism. In contrast to the oculocutaneous type, ocular
albinism is usually inherited as an x-linked trait.
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What diagnostics are done for patients considered to have albinism?
VEP findings suggest an excessive decussating of neurons at the chiasm.
Hair root studies are done to determine tyrosinase activity.
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top
Can anything
be done to improve the visual acuity?
Correcting the
associated refractive error, particularly astigmatism may improve
acuity, or sometimes the severity of nystagmus. Tinted glasses will
help in decreasing the sensitivity to light.
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EYE REPUBLIC
Ophthalmology Atlas
CLINIC INFORMATION
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EYE REPUBLIC Ophthalmology Clinic
Manila
3/F Don Santiago Building Units 309-310
1344 Taft Avenue, Ermita
Manila, 1000 Philippines
Direct and Fax: (632) 536-2398
Trunk Line: (632) 523-8271 to 79 local 30
Mobile: (63917) 899-2020
Map and directions
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EYE REPUBLIC
Ophthalmology Clinic
Asian Hospital
and Medical Center
5/F Medical Office
Building (MOB) Suite 509
2205 Civic Drive,
Filinvest, Alabang
Muntinlupa City,
1781 Philippines
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(632) 771-9253
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(632) 771-9254
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Map and Directions
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EYE REPUBLIC Ophthalmology Clinic
Medical City
6/F Medical Arts Tower Inc (MATI) Suite 602
MERALCO Compound, Ortigas Avenue
Pasig City, 1604, Philippines
Direct and Fax: (632) 632-7846
Mobile: (63917) 537-2020
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EYE REPUBLIC
Ophthalmology Clinic
St. Luke's
Medical Center
6/F
Cathedral Heights Building Complex (CHBC)
North Tower Suite 614
279 E. Rodriguez
Sr. Boulevard
Quezon City, 1102
Philippines
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CLINIC HOURS
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ALBINISM
information compiled by
Dr. Barbara
L. Roque and initially uploaded on September 13, 2005.
Last updated on
September 13, 2007. |
