1.Optical Coherence Tomography Findings in Three Cases of Albinism.
Chang Jun PARK ; Seon Jin WANG ; Jung Yeul KIM
Journal of the Korean Ophthalmological Society 2007;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 scans were unable to detect the foveal depression in these patients. A widespread thickening of the retina occurred throughout the entire fovea, which showed no difference from the surrounding macula. OCT scans also demonstrated probable scleral layer below the retinal pigment epithelial (RPE) layer. CONCLUSIONS: OCT scans of albinism patients confirmed foveal hypoplasia and increased transmission of incident light in the RPE layer.
Albinism*
;
Albinism, Ocular
;
Albinism, Oculocutaneous
;
Depression
;
Humans
;
Retina
;
Retinaldehyde
;
Tomography, Optical Coherence*
2.A Case of Squamous Cell Carcinoma in Oculocutaneous Abinism.
Woo Kwon JUNG ; Jong Suk LEE ; Sang No YOUN ; Young Lip PARK ; Young Keun KIM
Korean Journal of Dermatology 1995;33(1):109-113
Albinism is an inherited ongenital disarder in which there is sgr neralized decrease or absence of pigrnent in the eyes, skin, and hair. There are two general groups (1) Oculocutneou albinism, (2) Ocular albinism. Skin cancers in albinos are rare in ternperate clirnats and t.hey occur rnostly on sun ex posed areas. We present a case of recurrance of squarnous cell carcinoma ir a Korean albinoid on both sides of the neck and right ear. On liistopathologic examination, we find I or pearls, and irregular mases of epidermal cells that proliferite downward into the devmis. The invaing cell masses are composed of atypical squamous cells.
Albinism
;
Albinism, Ocular
;
Carcinoma, Squamous Cell*
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Ear
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Hair
;
Neck
;
Skin
;
Skin Neoplasms
;
Solar System
3.Non-invasive prenatal detection of ocutaneous albinism type I based on cfDNA barcode-enabled single-molecule test.
Conghui WANG ; Chen CHEN ; Xiaofeng WANG ; Xuechao ZHAO ; Ganye ZHAO ; Li'na LIU ; Xiangdong KONG
Chinese Journal of Medical Genetics 2021;38(4):317-320
OBJECTIVE:
To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test (cfBEST) for the prenatal diagnosis of oculocutaneous albinism type I in a family.
METHODS:
Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis. The outcome of the pregnancy was followed up.
RESULTS:
Non-invasive prenatal testing based on cfBEST showed a fetal DNA concentration of 6.6%, with the proportion of c.929_930insC (p.Arg311Lysfs*7) and c.1037-7T>A mutations being 45.7% and 0%, respectively. The posterior frequency of the negative results was 1, suggesting that the fetus carried neither of the two mutations. The result was consistent with that of invasive prenatal diagnosis, and the follow-up found that the fetus was normal.
CONCLUSION
Non-invasive prenatal testing based on cfBEST can be used to detect maternal and fetal genotypes in maternal cell-free DNA, which is clinically feasible.
Albinism
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Albinism, Oculocutaneous/genetics*
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Amniocentesis
;
Cell-Free Nucleic Acids
;
Female
;
Humans
;
Pregnancy
;
Prenatal Diagnosis
4.Four cases of albinism in a family.
Chinese Journal of Medical Genetics 2015;32(1):72-72
5.Oculocutaneous Albinism Type 1 Diagnosed by Genetic Study in a Newborn Infant.
Young Joon AHN ; Chun Soo KIM ; Sang Lak LEE ; Dae Kwang KIM
Korean Journal of Perinatology 2013;24(3):195-198
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 important clinical features of OCA 1. We report a newborn case of OCA 1 with two different TYR mutations, and gene defects of the baby revealed to be originated from both parents carriers of OCA.
Albinism, Oculocutaneous*
;
Hair
;
Humans
;
Infant, Newborn*
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Melanins
;
Parents
;
Scalp
;
Skin
6.Hypopigmented mycosis of fungoides in an eight-year-old girl managed with narrowband ultraviolet B therapy.
dela Cruz Ciara Mae H. ; Dayrit Johannes F. ; Senador Leilani R.
Journal of the Philippine Dermatological Society 2016;25(1):47-50
Mycosis fungoides presenting with hypopigmented lesions is an uncommon variant, which is usually described among dark-skinned patients. We report a case of hypopigmented mycosis fungoides in an eight-year-old girl who has responded favorably to narrowband-ultraviolet B therapy. The disease mimics several benign inflammatory skin conditions, hence, a high clinical suspicion is warranted in patients presenting with widespread hypopigmentation.
Human ; Female ; Child ; Albinism, Oculocutaneous ; Hypopigmentation ; Mycosis Fungoides ; Skin ; Lymphoma
7.Study on TYR gene variant from a pedigree with oculocutaneous albinism.
Yingzhen ZHANG ; Caihong JIN ; Min GUO ; Duofu LI ; Lianming CHAI ; Yang WU ; Donglu LI
Chinese Journal of Medical Genetics 2021;38(9):833-837
OBJECTIVE:
To analyze gene variants in a Chinese pedigree with oculocutaneous albinism (OCA).
METHODS:
Gene sequencing of the proband and his parents was performed using chip capture high-throughput sequencing and Sanger sequencing techniques, and PolyPhen-2, SIFT, MutationTaster, and FATHMM software were used to predict the function of new variants. At the same time,the pedigree and variant genes of 4 albinism patients from this pedigree were analyzed.
RESULTS:
Sequencing results showed that the proband's TYR gene (NM_000372) has c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) compound heterozygous variants. The proband's father carries c.230G>A heterozygous variant, and the mother carries c.120_121insG heterozygous variant, indicating that the proband's two variants are from his father and mother. The former is a known missense variant, which can cause abnormal or loss of the original function of the protein polypeptide chain. The latter c.120_121insG(p.Asp42GlyfsTer35) is an unreported frameshift variant of the TYR gene subregion (EX1; CDS1). PolyPhen-2, SIFT, MutationTaster and FATHMM predictions are all prompted as "harmful variants". This variant caused the amino acid encoded protein to terminate prematurely, producing a truncated protein, which eventually formed a 76-amino acid short-type TYR protein instead of the 529-amino acid wild-type TYR protein. Through the pedigree analysis, the four patients in the pedigree are all of the same type of compound heterozygous variants, and the disease-causing genes are all from the patient's parents. They belong to a special form of consanguineous marriage within 5 generations.
CONCLUSION
The compound heterozygous variants of c.230G>A (p.Arg77Gln) and c.120_121insG (p.Asp42GlyfsTer35) of the TYR gene may underlie the disease in this pedigree. The gene sequencing results enrich the variant spectrum of the TYR gene, and has facilitated molecular diagnosis for the patient.
Albinism, Oculocutaneous/genetics*
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Consanguinity
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Heterozygote
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Humans
;
Mutation
;
Pedigree
8.Two Cases of Oculocutaneous Albinism with Congenital Nystagmus.
Gyu Cheol HAN ; Jung Hoon LEE ; Hae Jung PAIK
Korean Journal of Otolaryngology - Head and Neck Surgery 2004;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 of `ocular albinism' where hypopigmentation is limited to eyes are found rarely. Biochemically, albinism is caused by the tyrosinase activity. Typical findings in oculocutaneous albinism include not only ophthalmologic problems such as hypopigmentation of skin, foveal hypoplasia, photophobia and decreased visual acuity but also congenital nystagmus. We cannot determine distinctive characteristics of nystagmus of albinism because domestically, there are only a few reports that have been recorded correctly about nystagmus of albinism. Merely, we present our experience of two cases of albinism with congenital nystagmus because we think that these two cases, showing different types of nystagmus and electronystagmography, stand for the two representative types of nystagmus found in the literature up to date.
Albinism
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Albinism, Oculocutaneous*
;
Dihydroxyphenylalanine
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Electronystagmography
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Genetic Diseases, Inborn
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Hair
;
Hypopigmentation
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Incidence
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Monophenol Monooxygenase
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Nystagmus, Congenital*
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Photophobia
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Skin
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Tyrosine
;
Visual Acuity
9.A Study on the Tyrosinase Related to the Albinism.
Kwang Sang KIM ; Jeong Joong KIM ; Hwang Hee LEE ; Won Shin KIM ; Hee Sub RHEE ; Jai Min OH ; Min Kyu CHOI ; Seung Taeck PARK ; Yeun Tai CHUNG
Korean Journal of Physical Anthropology 1995;8(2):215-221
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 into five exons. Until now several mutations of the tyrosinase gene have been identifed in patient with typical oculocutaneous albinism (OCA) who are responsible for tyrosinase negative OCA. It may be possible to determine the types of OCA by measuring the hairbulb tyrosinase activity. Hairbulb tyrosinase activity was examined in a Korean albino to determine the type of OCA. And also tyrosinase assay was carried out in normally pigmented individuals and all members of a Korean albino's family to examine the tyrosinase activities. Five exons of tyrosinase gene from a Korean albino were amplified by polymerase chain reaction. Each amplified exon segments were independently subcloned and DNA sequences of clones were determined. The results obtained were as follows : 1. A Korean albino had no measurable hairbulb tyrosinase activity and was identified as type IA (tyrosinase negative) oculocutaneous albinism. 2. Normally pigmented individuals had different ranges of hairbulb tyrosinase activity. 3. A Korean albino had two single base insertions within exon V (between 337bp and 338bp, 353bp and 354bp) of tyrosinase gene. These insertional mutations might disrupt tyrosinase function and were associated with a total lack of melanin biosynthesis.
Albinism*
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Albinism, Oculocutaneous
;
Arm
;
Base Sequence
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Chromosomes, Human, Pair 11
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Clinical Coding
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Clone Cells
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Exons
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Humans
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Melanins
;
Monophenol Monooxygenase*
;
Polymerase Chain Reaction
10.A Case of Retinal Detachment Surgery in Albinism Patient.
Ji Wook YANG ; Seung Jin LEE ; Seung Bum KANG ; Young Hoon PARK
Journal of the Korean Ophthalmological Society 2008;49(5):840-844
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 eye. His best corrected visual acuity was hand movement in his left eye, and rhegmatogenous retinal detachment involving the macula at the superior temporal site was found. We performed pars plana vitrectomy and attempted to reattach the retina using endolaser photocoagulation; however, the laser burn was not made, and we failed to reattach the retina. At that point, we carried out cryopexy around the retinal tear, and injected silicone oil into the vitreous cavity. Ten months after surgery, his best corrected visual acuity was 0.06, and there was no recurrent retinal detachment or proliferative vitreoretinopathy. CONCLUSIONS: In patients with albinism with melanin deficiency, cryopexy is more useful than laser photocoagulation for retinal detachment surgery.
Adult
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Albinism
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Albinism, Oculocutaneous
;
Burns
;
Eye
;
Hand
;
Humans
;
Light Coagulation
;
Melanins
;
Retina
;
Retinal Detachment
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Retinal Perforations
;
Retinaldehyde
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Silicone Oils
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Visual Acuity
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Vitrectomy
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Vitreoretinopathy, Proliferative