Genetic variant analysis of a pedigree affected with lymphedema-distichiasis syndrome / 中华医学遗传学杂志

OBJECTIVE@#To analyze FOXC2 gene variant in a family affected with lymphodema-distichiasis syndrome (LDS).@*METHODS@#Peripheral blood samples were collected for the extraction of DNA and protein. Whole-exome sequencing was carried out to detect variants in the proband. Suspected variant was validated by Sanger sequencing. Western blotting was used to detect changes in protein expression.@*RESULTS@#The proband and his mother were both found to carry a heterozygous nonsense variant c.177C>G (p.Tyr59X) of the FOXC2 gene, which was previously unreported. Down-regulated expression of FOXC2 was detected by Western blotting. Prenatal ultrasonography of the fetus indicated increased nuchal thickness. Amniocentesis was performed at 21+1 weeks of pregnancy, genetic testing suggested that the fetus also carried the c.177C>G variant.@*CONCLUSION@#The patients' condition may be attributed to the heterozygous nonsense variant c.177C>G of the FOXC2 gene, which resulted in a significant decrease in FOXC2 expression. Increased nuchal thickness may also be related with decreased FOXC2 expression. Above finding has expanded the variant spectrum of the FOXC2 gene.

Genetic analysis and clinical phenotype of a family with lymphedema-distichiasis syndrome / 浙江大学学报·医学版

OBJECTIVE@#To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS).@*METHODS@#The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing.@*RESULTS@#The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a @*CONCLUSIONS@#The

Surgical treatment of esotropia and unilateral ptosis in a patient with Cornelia de Lange syndrome / 영남의대학술지

Cornelia de Lange syndrome (CdLS) is a rare multisystemic disorder that is characterized by mental retardation, prenatal and postnatal growth retardation, limb anomalies, and distinctive facial features, which include arched eyebrows that often meet in the middle (synophrys), long eyelashes, low-set ears, small and widely spaced teeth, and a small and upturned nose. Ophthalmic manifestations include long eyelashes, nasolacrimal duct obstruction, myopia, ptosis, and strabismus. There has been no report of surgical treatment for esotropia and unilateral ptosis in patients with CdLS in Korea. I report a patient with CdLS who underwent surgical treatment for esotropia and unilateral ptosis with a good surgical outcome.

Ácaros del género Demodex: ¿parásitos colonizadores de personas sanas o asociados a patología ocular? / Demodex genus: colonizing parasites of healthy people or mites associated with ocular pathology?

Las especies Demodex folliculorum y Demodexbrevis, responsables de la demodicosis humana, afectan la piel y en ocasiones están vinculadas con afecciones oculares. El objetivo de este trabajo fue conocer si existe asociación significativa entre la presencia del ácaro y de patologías palpebrales, y el papel de factores como la edad y el sexo de los pacientes. Se analizaron las pestanas de un conjunto de pacientes sintomáticos y asintomáticos (n = 72) de entre 9 y 82 años. El 53% de los pacientes fueron positivos para la presencia del ácaro Demodex. De ellos, el 66% manifestó síntomas o patologías oculares, dentro de las cuales la blefaritis y el ojo seco resultaron prevalentes. Se observaron asociaciones significativas tanto entre la presencia de este ácaro y una edad mayor de 60 años (p < 0,001), como entre la presencia del ácaro y ojo seco o blefaritis o ambos (p <0,001). Consideramos necesaria la búsqueda de Demodex sp. en pacientes con síndrome de ojo seco o blefaritis, especialmente durante la inmunosenescencia, a fin de instaurar tratamientos antiparasitarios específicos.

Demodex folliculorum and Demodex brevis are mites that are responsible for human demodicosis affecting skin and frequently linked to ocular diseasess. The aim of this work was to determine the association between Demodex sp. and eyelid and eyelash diseases and to establish the predisposing factors for acquiring this parasitic disease. Eyelashes from symptomatic and asymptomatic patients (n = 72) between 9 and 82 years old were analyzed, where 53% were positive for Demodex sp., of which 66% manifested ocular symptoms and pathologies, blepharitis and dry eye being prevalent. Significant correlations between Demodex and patients over 60 years of age (p <0.001) and between Demodex sp. and dry eye patients / blepharitis (p <0.001) were observed. We consider that it is necessary to search for Demodex sp. especially in those patients suffering from dry eye and blepharitis and/or during immunosenescence in order to implement specific antiparasitic treatments.

Phthirus pubis Infestation of the Scalp: A Case Report and Review of The Literature

Phthirus pubis usually infests the pubis, groin, buttocks and perianal region. It can sometimes infest the thighs, abdomen, chest, axillae and beard. Eyelashes and eyebrows may be involved in children. The involvement of the scalp is very rare. We describe a case of P. pubis infestation located exclusively on the scalp in an adult woman. Neither lice/nits nor skin lesions were observed elsewhere, including eyebrows, eyelashes, axillae, pubis, buttocks and perianal region (the patient was hairless in the axillae and pubis). A review of the literature is enclosed.

Hair Diameter Variation in Different Vertical Regions of the Occipital Safe Donor Area

BACKGROUND: Little is known concerning hair diameter variation within the safe donor area for hair transplantation surgery. Thicker or thinner hair may be needed, depending on the recipient area, hairline design, and the purpose of surgery. METHODS: Twenty-seven patients (7 men and 20 women; mean age, 28 years; range, 20–47 years) were included in this study. The midoccipital point was used as the reference point on the horizontal plane at the upper border of the helical rim. The target area width was 15 cm (7.5 cm to the right and left of the reference point) and the height was 8 cm (2 cm above and 6 cm below the reference point). The study area was divided horizontally into 3 5-cm sections (A, B, C) and vertically into 4 2-cm sections (1–4), creating a total of 12 zones. Ten anagen hairs were randomly obtained from each zone and their diameters were measured. RESULTS: Hair diameter in the 4 vertical sections varied significantly, gradually decreasing from sections 1 (superior) to 4 (inferior) in all 3 horizontal sections (A, B, and C). CONCLUSIONS: Our results suggest that sections 1 and 2 of the occipital safe donor area would be useful for obtaining thicker hair, such as in procedures to treat male- and female-pattern hair loss, whereas hair from zones 3 and 4 could be useful for transplantation surgery requiring thinner hair, such as eyebrows, eyelashes, and female hairline correction. Our results may be clinically valuable for planning hair transplant surgery and choosing the optimal donor region.

Rothmund-Thomson syndrome and ocular surface findings: case reports and review of the literature / Síndrome de Rothmund-Thomson e achados da superfície ocular: casos clínicos e revisão da literatura

ABSTRACT Rothmund-Thomson syndrome (RTS) is a rare dermatosis with about 300 cases reported to date. The authors describe two siblings with RTS and inflammatory conjunctival disease featuring fornix shortening and symblepharon as well as palpebral disease with sparse eyelashes. These cases demonstrate RTS ocular surface findings different to those usually described.

RESUMO A síndrome de Rothmund-Thomson (SRT) é uma dermatose rara com cerca de 300 casos reportados. Os autores descrevem dois irmãos com síndrome de Rothmund-Thomson e doença inflamatória conjuntival com encurtamento do fundo de saco e simbléfaro, assim como doença palpebral com escassez de cilíos. Ambos os casos demonstram achados da superfície ocular diferentes dos habitualmente descritos.

Unilateral phthiriasis palpebrarum infestation in a child during occlusion therapy for amblyopia: case report

An 8-year-old mentally retarded boy is brought to the hospital because of itching and burning at his right eye for 10 days. He was on full time right eye occlusion therapy for left amblyopia. Slit lamp examination revealed nits and adult lice anchored to the eyelashes in his occluded eye. Eyelashes and all detected lice and nits were mechanically trimmed, and sent for parasitological examination, which confirmed the diagnosis. Upon familial evaluation for additional infestation, the father was also found to have genital phthiriasis pubis and received appropriate treatment. While phthiriasis palpebrarum in children may signify sexual abuse, a detailed investigation by a child psychiatrist was performed and revealed no sign of abuse. Since the infestation was at only on occluded eye, the most possible explanation for the transmission was evaluated as the misusage of the adhesive patch in our case. In conclusion, sexual abuse should be excluded in children with phthiriasis palpebrarum and parents of amblyopic children on occlusion therapy should be warned about the importance of the hygiene of the patching in order to avoid any kind of infection and infestation

A Case of Corneal Opacity Improved by Treatment of Demodex Blepharitis

PURPOSE: To report a case of corneal opacity improved by treatment of demodex blepharitis. CASE SUMMARY: A 50-year-old female who received sub-laser-assisted in situ keratomileusis (LASIK) flap surgery was referred to our clinic with corneal opacity and neovascularization in her left eye. Her visual acuity was 0.5. Telangiectasis of the eyelid margin and meibomian gland dysfunction were observed. Seven Demodex folliculorum were found in 4 eyelashes of the left eye. Lid scrub with 0.4% polyhexamethylene biguanide (PHMB) and ointment containing dexamethasone was started for demodex blepharitis treatment. After 6 months of treatment, the number of Demodex folliculorum was decreased to 2 and the best corrected visual acuity was 0.8. Corneal opacity and neovascularization were also improved. CONCLUSIONS: The present study showed that demodex blepharitis can induce atypical corneal opacity and neovascularization after LASIK surgery. Evaluation and treatment of demodex blepharitis in these patients is important.

Paradoxical Trichomegaly of the Eyelashes During Treatment with EGFR Inhibitors: 2 Case Report

PURPOSE: To introduce 2 cases of trichomegaly associated with the use of systemic epidermal growth factor receptor (EGFR) inhibitors for the treatment of lung cancer. CASE SUMMARY: An 82-year-old female visited our clinic for ocular pain in both eyes. She was suffering from metastatic lung cancer and was under daily treatment with gefitinib (Iressa(R), AstraZeneca, London, UK) for 6 months. On ophthalmologic examination, she presented with abnormally elongated eyelashes, hyperemic conjunctiva and dense corneal erosion. A 52-year-old male who was diagnosed with non-small cell lung cancer 7 months before and treated with erlotinib (Tarceva(R) OSI Pharmaceuticals, Inc., Melville, NY, USA) was referred to our clinic for injection and foreign body sensation in both eyes. Although there were no remarkable changes in eyelashes at the initial visit, long, curly, uneven eyelashes were observed after 3 months. CONCLUSIONS: Due to the increased use of EGFR inhibitors in anti-cancer treatment, ophthalmologists should be aware of these chemotherapeutics' adverse effects.

Clinical Efficacy of Polyhexamethylene Biguanide Lid Scrub on Demodex Blepharitis

PURPOSE: To evaluate the treatment efficacy of polyhexamethylene biguanide (PHMB) lid scrub on Demodex blepharitis. METHODS: Thirty-one patients diagnosed with Demodex blepharitis were evaluated every 2 weeks during 8 weeks of lid scrub treatment with 0.4% PHMB. Patients underwent epilation of 4 eyelashes in each eye, and the number of Demodex lesions was counted. The patients answered questionnaires regarding ocular surface discomfort and underwent ophthalmologic exams including slit lamp and tear breakup time (TBUT). Compliance was recorded as 1 of 3 stages (good, moderate, poor). RESULTS: One patient was excluded for poor compliance. After PHMB lid scrub for 8 weeks, Demodex count was reduced in 28 of 30 patients (pre-PHMB 7.9 +/- 3.6 counts, post-PHMB 2.2 +/- 2.4 counts, p < 0.01). In addition, TBUT showed a statistically significant increase after PHMB lid scrub (pre-PHMB 2.7 +/- 0.8 seconds, post-PHMB 3.4 +/- 0.9 seconds, p < 0.01). Ocular surface disease index (OSDI) score was reduced in 28 of 30 patients (pre-PHMB 22.0 +/- 10.7 points, post-PHMB 7.4 +/- 6.0 points, p < 0.01). CONCLUSIONS: Eight weeks of treatment with polyhexamethylene biguanide lid scrub on Demodex blepharitis had good treatment efficacy for reducing Demodex counts and OSDI scores and increasing TBUT.

The Effect of 0.02% Mitomycin C Injection into the Hair Follicle with Radiofrequency Ablation in Trichiasis Patients

PURPOSE: To investigate the inhibitory effect of 0.02% mitomycin C on eyelash regrowth when injected to the eyelash hair follicle immediately after radiofrequency ablation. METHODS: We prospectively included 21 trichiasis patients from June 2011 to October 2012. Twenty eyes of 14 patients were treated with 0.02% mitomycin C to the hair follicle immediately after radiofrequency ablation in group 1, while radiofrequency ablation only was conducted in ten eyes of seven patients in group 2. Recurrences and complications were evaluated until six months after treatment. RESULTS: One hundred sixteen eyelashes of 20 eyes in group 1 underwent treatment, and 19 (16.4%) eyelashes recurred. Eighty-four eyelashes of ten eyes in group 2 underwent treatment, and 51 (60.7%) eyelashes recurred. No patients developed any complications related to mitomycin C. CONCLUSIONS: Application of 0.02% mitomycin C in conjunction with radiofrequency ablation may help to improve the success rate of radiofrequency ablation treatment in trichiasis patients.

The Effect of 0.02% Mitomycin C Injection into the Hair Follicle with Radiofrequency Ablation in Trichiasis Patients

PURPOSE: To investigate the inhibitory effect of 0.02% mitomycin C on eyelash regrowth when injected to the eyelash hair follicle immediately after radiofrequency ablation. METHODS: We prospectively included 21 trichiasis patients from June 2011 to October 2012. Twenty eyes of 14 patients were treated with 0.02% mitomycin C to the hair follicle immediately after radiofrequency ablation in group 1, while radiofrequency ablation only was conducted in ten eyes of seven patients in group 2. Recurrences and complications were evaluated until six months after treatment. RESULTS: One hundred sixteen eyelashes of 20 eyes in group 1 underwent treatment, and 19 (16.4%) eyelashes recurred. Eighty-four eyelashes of ten eyes in group 2 underwent treatment, and 51 (60.7%) eyelashes recurred. No patients developed any complications related to mitomycin C. CONCLUSIONS: Application of 0.02% mitomycin C in conjunction with radiofrequency ablation may help to improve the success rate of radiofrequency ablation treatment in trichiasis patients.

Essential trichomegaly: case report / Tricomegalia essencial: relato de caso

The present study reports two cases of symptomatic essential trichomegaly. Trichomegaly may develop in various diseases, including anorexia nervosa, hypothyroidism, pregnancy, pretibial myxedema, systemic lupus erythematosus, vernal keratoconjunctivitis, and uveitis. The exact incidence trichomegaly is unknown, and the condition remains sporadically reported. Two cases of symptomatic trichomegaly without any associated systemic disorder are presented in this paper.

O presente estudo tem por objetivo relatar dois casos de tricomegalia essencial com diminuição da acuidade visual. A tricomegalia pode se desenvolver em várias doenças, incluindo anorexia nervosa, hipotireoidismo, gravidez, mixedema pré-tibial, lúpus eritematoso sistêmico, ceratoconjuntivite primaveril, e uveíte. A incidência da tricomegalia essencial é desconhecida e a condição permanece esporadicamente relatada. São apresentados dois casos de tricomegalia sintomática em pacientes sem distúrbios sistêmicos associados.

Surgical anatomy of the upper eyelid relating to upper blepharoplasty or blepharoptosis surgery / 대한해부학회지

Eyelid anatomy, including thickness measurements, was examined in numerous age groups. The thickest part of the upper eyelid is just below the eyebrow (1.127+/-238 microm), and the thinnest near the ciliary margin (320+/-49 microm). The thickness of skin at 7 mm above the eyelashes was 860+/-305 microm. The results revealed no significant differences among the age groups. Fast fibers (87.8+/-3.7%) occupied a significantly larger portion of the orbicularis oculi muscle (OOM) than nonfast fibers (12.2+/-3.7%). The frontalis muscle passed through and was inserted into the bundles of the OOM on the superior border of the eyebrow at the middle and medial portions of the upper eyelid. Laterally, the frontalis muscle inserted about 0.5 cm below the superior border of the eyebrow. Fast fibers occupied a significantly larger portion of the OOM than did non-fast fibers. The oculomotor nerve ends that extend forward to the distal third of the levator muscle are exposed and vulnerable to local anesthetics and may be numbed during blepharoplasty. The orbital septum consists of 2 layers. The outer layer of loose connective tissue descends to interdigitate with the levator aponeurosis and disperses inferiorly. The inner layer follows the outer layer, then reflects and continues posteriorly with the levator sheath. Widths of the tarsal plate at its lower border, mid-height, and upper border were 21.8+/-1.8, 16.2+/-1.6, and 8.3+/-1.0 mm, respectively. The widths of the levator aponeurosis were 32.0+/-2.2, 29.2+/-3.5, and 27.2+/-3.9 mm, respectively. Below the levator, the "conjoint fascial sheath" (CFS) is attached to the conjunctival fornix. The CFS was 12.2+/-2.0 mm anteroposterior length and 1.1+/-0.1 mm thick. The shape was equilateral trapezoid with a longer base anteriorly. The superior palpebral muscle was trapezoidal. The lengths of its sides were 15.58+/-1.82 and 22.30+/-5.25 mm, and its height was 13.70+/-2.74 mm. The width of the levator aponeurosis was approximately 4 mm wider than the superior palpebral muscle.

Erlotinib Induced Trichomegaly of the Eyelashes / 결핵및호흡기질환

Epithelial growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) have been widely used for non-small-cell lung cancer patients. Its untoward cutaneous effects are largely well known and developed in many patients treated with EGFR TKIs. However trichomegaly of eyelash is rarely reported. Although trichomegaly is not a drug-limiting side effect, it could be troublesome of continuing the treatment because of cosmetic issue or eyeball irritation by long eyelashes. Therefore clinicians are needed to pay attention to this uncommon effect. We herein describe erlotinib induced trichomegaly of eyelashes in a woman with adenocarcinoma of the lung.

A Case of Oculocutaneous Albinism 1A Accompanying with Tyrosinase Mutation / 대한피부과학회지

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 strabismus. OCA is including four types, from OCA 1 to OCA 4. OCA 1 is the most frequent, and produced by the loss of function of melanocytic enzyme tyrosinase, resulting from mutations of the tyrosinase (TYR) gene. We report a case of 2-year-old Korean toddler OCA 1A patient with white skin, hair, eyelashes, and eyebrows. TYR gene mutation, fully translucent pinkish irises, with skin that does not tan, was also observed.

Demodex folliculorum on the eyelash follicule of diabetic patients / Demodex folliculorum nos cílios de pacientes diabéticos

PURPOSE: To compare the prevalence of Demodex folliculorum on the eyelashes of patients with proliferative diabetic retinopathy and healthy voluntaries. METHODS: Type 2 diabetic patients with proliferative retinopathy and age- and gender-matched healthy voluntaries (group control) underwent a slit lamp examination which three eyelashes containing cylindrical dandruff were removed from each lid by fine forceps. The lashes were dyed with fluorescein and the presence of Demodex folliculorum was verified by direct visualization under a light microscope. The mites were recognized based on its morphology and peculiar movement. The results were expressed in "positive" when at least one mite on one lash was found and "negative" when no mite was identified. The Chi-square test was used for comparing mites' presence in both groups. RESULTS: Forty-two patients were included in each group. The age ranged from 50 to 60 years old, with a mean of 56.4 ± 5.2 years. The male:female ratio was 0.6:1. There was no statistically significant difference with regard to age and gender in both groups (p>0.05). Demodex folliculorum was significantly more prevalent in diabetic patients (54.8 percent) than in control patients (38.1 percent) (p=0.048). CONCLUSION: Demodex folliculorum was more prevalent in diabetic patients than in healthy voluntaries, independently of gender and age.

OBJETIVO: Comparar a prevalência de Demodex folliculorum nos cílios de pacientes com retinopatia diabética proliferativa e voluntários normais. MÉTODOS: Pacientes com diabetes mellitus tipo 2 apresentando retinopatia proliferativa e voluntários normais com mesma distribuição de sexo e idade (grupo controle) foram submetidos a exame em lâmpada de fenda. Três cílios com secreção "em colarete" foram removidos de cada pálpebra com pinça delicada. Os cílios foram corados com fluoresceína e a presença de Demodex folliculorum foi verificada por visualização direta através de microscópio de luz. As larvas foram reconhecidas baseadas em sua morfologia e movimentos peculiares. Os resultados foram expressos em "positivo" quando foi encontrada pelo menos uma larva em um cílio e "negativo" quando nenhuma larva foi encontrada. O teste de Chi quadrado foi utilizado para comparar a presença das larvas nos dois grupos. RESULTADOS: Quarenta e dois pacientes foram incluídos em cada grupo. A idade variou de 50 a 60 anos com média de 56,4 ± 5,2 anos. A relação masculino:feminino foi de 0,6:1. Não houve diferença estatisticamente significante com relação ao sexo e idade entre os dois grupos (p>0,05). Demodex folliculorum foi significantemente mais prevalente em pacientes com diabetes (54,8 por cento) que no grupo controle (38,1 por cento) (p=0,048). CONCLUSÃO: Demodex foliculorum foi mais prevalente em pacientes diabéticos que em voluntários normais, independentemente do sexo e da idade.

Prevalencia de infección por Demodex folliculorum en pacientes que acuden a consulta general de oftalmología / The prevalence of Demodex folliculorum infection in patients attending a general ophthalmological consultation

Objetivos Determinar la prevalencia de infección por Demodex folliculorum en pacientes que asisten a consulta general de oftalmología, y su asociación con blefaritis. Métodos Estudio descriptivo de prevalencia. En forma aleatoria se seleccionaron 128 sujetos que asistieron al Centro Oftalmológico Virgilio Galvis y se determinó la presencia de Demodex folliculorum en 4 pestañas de cada uno. Resultados La prevalencia de infección por Demodex folliculorum fue 42,1 % (n= 54). Se diagnosticó blefaritis en el 38,3 % de los pacientes (n=49) y el 63,2 % de ellos (n=31) fueron positivos para D. folliculorum. En el grupo sin blefaritis (n=79) solo el 29,2 % de los individuos tenían el ácaro (n=23) (p=0.0003). Además se encontró una mayor cantidad de parásitos en los pacientes con blefaritis (índice de carga parasitaria 12,7 vs 5,1 (p=0.0001). El 25 % (n=32) de los participantes presentaban descamación en forma de cilindros y en estos el 96,9 % tenían el ácaro (n= 31), mientras que en los sujetos que no tenían cilindros (n=96) el ácaro estuvo presente solo en el 24 % (n=23). Conclusiones El Demodex folliculorum es un parásito que se encuentra en personas sin lesiones oculares, pero que es más frecuente y presenta una mayor carga parasitaria en pacientes con blefaritis. Nuestros resultados sugieren la necesidad de investigar la presencia de Demodex folliculorum en todo paciente con blefaritis y especialmente en los casos en que se observe presencia de descamación en forma de cilindros en las pestañas.

Objectives Determining Demodex folliculorum infection prevalence in patients attending general ophthalmological consultation and such infection's association with blepharitis. Methods This was a descriptive study of such prevalence. 128 subjects who attended the Virgilio Galvis Eye Centre were randomly selected and the presence of D. folliculorum was determined in 4 eyelashes taken from each of them. Results D. folliculorum infection prevalence was 42.1 % (n=54); blepharitis was diagnosed in 38.3 % of the patients (n=49) and 63.2 % of them (n=31) were positive for D. folliculorum. Only 29.2 % of the individuals in the group without blepharitis (n=79) had mites (n=23) (p=0.0003). A higher number of parasites was found in patients with blepharitis (12.7 parasitic load index cf 5.1; p=0.0001); 25 % (n=32) of the participants had scaling in the form of cylinders and 96.9 % of these had the mites (n=31), whereas the mite was only present in 24 % (n=23) of subjects who had no cylinder-type scaling (n=96). Conclusions Demodex folliculorum is a parasite found in people without ocular lesions; however, it is more frequent and has a higher parasite burden in patients with blepharitis. Our results suggested the need for investigating the presence of D. folliculorum in all patients suffering from blepharitis, especially in cases where cylinder-type scaling has been observed in their eyelashes.

Vogt-Koyanagi-Harada disease in an 8-year-old boy

Vogt-Koyanagi-Harada (VKH) disease is an autoimmune disease involving pigmented tissue in eyes, auditory system, skin, and central nervous system. The pathogenesis is a result of T cell lymphocyte reaction against melanocyte component, tyrosinase and tyrosinase-related protein. This disease uniquely affected pigmented race in Asia and native America, mostly women aged 20-50. We reported an 8-years-old boy complained for visual disturbance since 6 weeks prior admission. Two years earlier, the parents noted the patient eyes were looked red when photographed (suggesting a dilated pupil) preceded by whitened on the right forehead and nose and whitened hair, eyebrow and eyelashes. The examination showed a vitiligo and skin atrophy on right frontal and right nasal, poliosis on the eyebrows, eyelids and hair. The diameter of right pupil was 8 mm, with a paresis on 3rd, 4th, 6th, and 9th nerves. Fundus examination revealed sunset glow appearance. The visual acuity on the right eye: 2/60, left eye: 1-0. There's positive serology for antitoxoplasma IgG, anti Rubella IgG, anti CMV IgG. The patient was diagnosed with a VKH disease and then prescribed with methylprednisolone 1 mg/kg/day. The patient also had further follow up with dermatovenerologist and ophthalmologist. The eye examination revealed an improvement on right eye panuveitis, with a remaining keratic precipitate in the endothelium, and minimal flare and cell on the anterior chamber. ENT consultation revealed no ear inflammation or hearing disturbance.