- A Case of Oculocutaneous Albinism
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Lee KY, Ban MS, Song BR, Yoo JH
- KMID: 2147609
- J Korean Ophthalmol Soc.
- 2000 Jan;41(1):288-293.
Oculocutaneous albinism resulting from genetic defect of melanin synthesizing system is characterized by pale skin, straw-colored hair, hypopigmentation of the iris, hypoplasia of fovea, photophobia, low visual acuity and strabismus.... -
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- Two Cases of Oculocutaneous Albinism with Congenital Nystagmus
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Han GC, Lee JH, Paik HJ
- KMID: 2074519
- Korean J Otolaryngol-Head Neck Surg.
- 2004 Jul;47(7):683-691.
Albinism is a hereditary disease caused by the defect of tyrosinase that converts tyrosine to dihydroxyphenylalanine (DOPA). `Oculocutaneous albinism' is classified as hypopigmentation of skin, hair and eyes, but incidences... -
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- Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant
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Ahn YJ, Kim CS, Lee SL, Kim DK
- KMID: 2280944
- Korean J Perinatol.
- 2013 Sep;24(3):195-198.
- doi: 10.14734/kjp.2013.24.3.195
Oculocutaneous Albinism (OCA) is a heterogenous autosomal recessive disorder characterized by defective melanin biosynthesis. Physical findings including white scalp hair and depigmented skin of whole body in newborn infants are... -
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- Optical Coherence Tomography Findings in Three Cases of Albinism
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Park CJ, Wang SJ, Kim JY
- KMID: 2110579
- J Korean Ophthalmol Soc.
- 2007 Jun;48(6):854-859.
PURPOSE: To report optical coherence tomography (OCT) findings in albinism. METHODS: Full ocular examinations, including OCT, were performed in one patient with ocular albinism and two patients with oculocutaneous albinism. RESULTS: OCT... -
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- A Case of Chediak-Higashi Syndrome
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Han HK, Koo HM, Chung SK
- KMID: 2123361
- J Korean Ophthalmol Soc.
- 1995 May;36(5):879-884.
Chediak-Higashi syndrome is a rare autosomal recessive disease characterized by partial oculocutaneous albinism, photophobia, nystagmus, immunodeficiency with increased susceptibility to bacterial and viral infection. We experienced a 2-year old boy... -
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- A Case of Oculocutaneous Albinism 1A Accompanying with Tyrosinase Mutation
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Kwon JI, Ha JS, Lee KS, Cho JW
- KMID: 2302403
- Korean J Dermatol.
- 2012 Nov;50(11):987-990.
Oculocutaneous albinism (OCA) is a heterogeneous autosomal recessive disorder with reduction or complete absence of melanin in the skin, hair, eyes and combined with eye disorder, such as nystagmus and... -
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- Clinical Manifestations of Foveal Hypoplasia
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Park DY, Kim MM
- KMID: 2215155
- J Korean Ophthalmol Soc.
- 2011 Dec;52(12):1496-1500.
- doi: 10.3341/jkos.2011.52.12.1496
PURPOSE: To estimate the baseline demographic/ocular characteristics and associated findings of patients with foveal hypoplasia. METHODS: The medical records of 42 patients (84 eyes) who were clinically diagnosed with foveal hypoplasia... -
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- A Study on the Tyrosinase Related to the Albinism
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Kim KS, Kim JJ, Lee HH, Kim WS, Rhee HS, Oh JM, Choi MK, Park ST, Chung YT
- KMID: 2376342
- Korean J Phys Anthropol.
- 1995 Dec;8(2):215-221.
- doi: 10.11637/kjpa.1995.8.2.215
The gene for tyrosinase has been mapped to the long arm of chromosome 11 at 11q14-21. The gene is at least 50Kb in length and its coding region is divided... -
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- A Case of oculocutaneous albinism in a Maltese
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Park SA, Yi NY, Kim MS, Lim JH, Jeong MB, Nam TC, Seo KM
- KMID: 1090774
- J Vet Sci.
- 2005 Dec;6(4):361-362.
A 4-month-old female maltese dog was admitted to Veterinary Medical Teaching Hospital of Seoul National University for evaluation of abnormal color of bilateral irises. This patient had the photophobia in... -
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- Presence of Fusion in Albinism after Strabismus Surgery Augmented with Botulinum Toxin (Type A) Injection
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Tavakolizadeh S, Farahi A
- KMID: 1705431
- Korean J Ophthalmol.
- 2013 Aug;27(4):308-310.
- doi: 10.3341/kjo.2013.27.4.308
It is commonly accepted that albino patients with strabismus rarely achieve binocularity and depth perception after strabismus surgery. The presence of retino-geniculo-cortical misrouting, a hallmark of the visual system in... -
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- A Case of Oculocutaneous Albinism Induced by Tyrosinase Mutation
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Kim WJ, Kim SH, Jung DS, Ko HC, Kim MB, Kwon KS
- KMID: 2247750
- Korean J Dermatol.
- 2009 Nov;47(11):1291-1295.
Oculocutaneous albinism (OCA) is a group of inherited disorders of the melanin synthesizing system, and these are characterized by hypopigmentation of the hair, skin and eyes, with a normal number... -
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- A Case of Retinal Detachment Surgery in Albinism Patient
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Yang JW, Lee SJ, Kang SB, Park YH
- KMID: 2211717
- J Korean Ophthalmol Soc.
- 2008 May;49(5):840-844.
- doi: 10.3341/jkos.2008.49.5.840
PURPOSE: To report a case of retinal detachment surgery in a patient with oculocutaneous albinism. CASE SUMMARY: A 44-year-old man visited our clinic complaining of decreased visual acuity in his left... -
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- Molecular Analysis of Oculocutaneous Albinism Patients in Korea
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Hwang JH, Youn SW, Ahn JS, Kim KH, Park KC
- KMID: 2360359
- Ann Dermatol.
- 1997 Jul;9(3):182-187.
- doi: 10.5021/ad.1997.9.3.182
BACKGROUND: Oculocutaneous albinism (OCA) is a genetic disorder of the melanin pigment system in which melanin synthesis is reduced or absent in the skin, hair, and eyes. OCA is classified... -
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- Sequence Analysis of the Human Tyrosinase Gene in Korean
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Park KC, Kim KH
- KMID: 2361410
- Ann Dermatol.
- 1995 Jan;7(1):34-38.
- doi: 10.5021/ad.1995.7.1.34
BACKGOUND: Because heterogeneity of the human tyrosinase gene has been reported, it is of vital significance to know the correct nucleotide sequence of tyrosinase in Koreans in order to study... -
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- Reevaluation of Single Nucleotide Polymorphism of OCA2 in Koreans
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Na AY, Kim DK
- KMID: 2354348
- Korean J Phys Anthropol.
- 2016 Sep;29(3):93-98.
- doi: 10.11637/kjpa.2016.29.3.93
Oculocutaneous albinism type 2 (OCA2) is an autosomal recessive disorder that results from mutations in the P gene, and has approximately 70% function of melanin biosynthesis in the melanocytes. While... -
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