Heterocromia de íris: uma revisão das condições que podem afetar a pigmentação iridiana / Heterochromia: a review of conditions that may affect iris pigmentation

RESUMO A íris é responsável pela cor dos olhos. Ela ainda realiza o controle da quantidade de luz que penetra no olho pela pupila. Variações nos genes de cada indivíduo, além da quantidade e da qualidade de melanina na íris, determinam a cor dos olhos. A heterocromia é caracterizada por diferenças na coloração da íris de um mesmo indivíduo, sendo, na maioria das vezes, benigna. Existem basicamente três tipos de heterocromia de íris: central, setorial e completa. A heterocromia de íris pode ter como causa alterações genéticas e congênitas, relacionadas ou não a síndromes específicas, como a de Sturge-Weber, a de Waardenburg, a de Parry-Romberg e a de Horner congênita. Há também causas adquiridas, como doenças ou lesões, trauma ocular e corpos estranhos intraoculares, uso de certas medicações tópicas, siderose ocular, irites ou uveítes como a síndrome uveítica de Fuchs, dentre outras. Diante de um paciente com heterocromia de íris, deve-se entender o contexto e o curso clínico desse sinal, pois pode se tratar de uma alteração de pigmentação benigna ou existir uma doença base em curso, que requer terapêutica específica. Este artigo de revisão de literatura visa abordar as principais etiologias relacionadas à heterocromia de íris, além de discorrer sobre a anatomia e a fisiologia da coloração iridiana e sobre a fisiopatologia de suas possíveis alterações.

ABSTRACT The iris is responsible for eye color and controls the amount of light that enters the eye through the pupil. Variation in each individual's genes, besides the quantity and quality of melanin in the iris, determine eye color. Heterochromia is characterized by different colors of irises in the same individual, and it is benign in most cases. There are basically three types of heterochromia: central, partial and complete. Heterochromia can be caused by genetic and congenital alterations, which may or may not be related to specific conditions, such as Sturge-Weber syndrome, Waardenburg syndrome, Parry-Romberg syndrome and congenital Horner syndrome. It may be associated to acquired causes like diseases or injuries, such as eye trauma and intraocular foreign bodies, use of some topical medications, ocular siderosis, iritis or uveitis, such as Fuchs´ uveitis, among others. When assessing a patient with heterochromia, one must understand the context and clinical course of this signal, since it may be a benign pigmentation disorder or there may be an underlying disease, which requires specific therapy. This literature review article was set out to address the main etiologies related to heterochromia, in addition to describing the anatomy and physiology of the iris color and the pathophysiology of possible alterations.

Prenatal diagnosis of a novel SOX10 mutation in a patient with syndromic hearing loss / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a patient with syndromic hearing loss.@*METHODS@#Genomic DNA of the patient was extracted, for which 127 deafness-related genes were enriched with a chip. Following next generation sequencing, pathogenic loci in exonic regions were analyzed through comparison against the databases. Genotype of her fetus for the suspected site was determined by testing the amniotic fluid sample. qPCR method was applied to verify the deletion of a large fragment.@*RESULTS@#The proband was diagnosed with Waardenburg syndrome type 2, and had harbored a novel heterozygous deletion of the exons 3 and 4 of the SOX10 gene. Her fetus was found to carry the same deletion and presented with blue eyes and deafness after birth.@*CONCLUSION@#Waardenburg syndrome type 2 due to SOX10 gene deletion may feature autosomal dominant inheritance with incomplete penetrance. The deletion of exons 3 and 4 of the SOX10 gene probably underlies the disease in this family.

Pigmentation Phenotype Prediction of Chinese Populations from Different Language Families / 法医学杂志

Objective To predict the pigmentation phenotypes of Chinese populations from different language families, analyze the differences and provide reference data for forensic anthropology and genetics. Methods The HIrisPlex-S multiplex amplification system with 41 loci related to pigmentation phenotypes was constructed in the laboratory, and 2 666 DNA samples of adult males of 17 populations from six language families, including Indo-European, Sino-Tibetan, Altaic, Hmong-Mien, Tai-Kadai and Austro-Asiatic language families distributed in different regions of China were genotyped. The pigmentation phenotype category of each individual was predicted using the online prediction system （https://HIrisPlex.erasmusmc.nl/）, and then the output data were statistically analyzed. Results About 1.92% of the individuals of Asian-European admixed populations from Indo-European and Altaic language families had blue eyes and 34.29% had brown or gold hair. The phenotypes of the color of eyes and hair of other populations had no significant difference, all individuals had brown eyes and black hair. There were differences in skin color of populations of different language families and geographical areas. The Indo-European language family had the lightest skin color, and the Austro-Asiatic language family had the darkest skin color; the southwestern minority populations had a darker skin color than populations in the plain areas. Conclusion The prediction results of pigmentation phenotype of Chinese populations are consistent with the perception of the appearance of each population, proving the reliability of the system. The color of eyes and hair are mainly related to ancestral components, while the skin color shows the differences between language families, and is closely related to geographical distribution of populations.

DNA Molecular Identification of Human Phenotypic Characteristics--New Progress Over the Past Five Years / 法医学杂志

Molecular identification of human externally visible characteristic （EVC）, which is also called forensic DNA phenotyping （FDP）, can serve as a "molecular witness" when the routine investigations can not determine the identity of a criminal and the DNA database find no match after comparison. FDP could assist in investigation of cases by inferring the externally visible phenotypic characteristics from DNA obtained from the biological materials left at crime scenes, or unknown corpses. In the last few years, studies on the selection of EVC related molecular markers have been reported frequently and some of the EVCs could already be inferred with a certain accuracy, such as hair color and iris color. Further fundamental research on molecular genetics of human external phenotypic characteristics, as well as the continuous innovation on molecular biological technology would promote the rapid development of DNA molecular identification of human phenotypic characteristics.

Research progress on the phenotype informative SNP in forensic science / 法医学杂志

Single nucleotide polymorphism (SNP) refers to the single base sequence variation in specific location of the human genome. Phenotype informative SNP has gradually become one of the research hot spots in forensic science. In this paper, the forensic research situation and application prospect of phenotype informative SNP in the characteristics of hair, eye and skin color, height, and facial feature are reviewed.

A melanoma risk score in a Brazilian population / Um escore de risco para melanoma em uma população brasileira

BACKGROUND: Important risk factors for cutaneous melanoma (CM) are recognized, but standardized scores for individual assessment must still be developed. OBJECTIVES: The objective of this study was to develop a risk score of CM for a Brazilian sample. METHODS: To verify the estimates of the main risk factors for melanoma, derived from a meta-analysis (Italian-based study), and externally validate them in a population in southern Brazil by means of a case-control study. A total of 117 individuals were evaluated. Different models were constructed combining the summary coefficients of different risk factors, derived from the meta-analysis, multiplied by the corresponding category of each variable for each participant according to a mathematical expression. RESULTS: the variable that best predicted the risk of CM in the studied population was hair color (AUC: 0.71; 95% CI: 0.62-0.79). Other important factors were freckles, sunburn episodes, and skin and eye color. Consideration of other variables such as common nevi, elastosis, family history, and premalignant lesions did not improve the predictive ability of the models. CONCLUSION: The discriminating capacity of the proposed model proved to be superior or comparable to that of previous risk models proposed for CM. .

FUNDAMENTOS: importantes fatores de risco para melanoma cutâneo são reconhecidos, mas escores padronizados para avaliação individual ainda precisam ser elaborados. OBJETIVOS: o objetivo deste estudo foi desenvolver um escore de risco de melanoma cutâneo para uma amostra brasileira. MÉTODOS: verificar as estimativas dos principais fatores de risco para melanoma, derivado de uma meta-análise (estudo de base italiano) e, externamente, validar em uma população do sul do Brasil por um estudo caso-controle. Um total de 117 indivíduos foram avaliados. RESULTADOS: a variável com maior poder preditivo para o risco de melanoma cutâneo na população estudada foi a cor do cabelo (AUC: 0,71, IC 95%: 0,62-0,79). Outros fatores importantes para o modelo foram: sardas, queimaduras solares, e cor de pele e cor dos olhos. Adicionando outras variáveis, como os nevos comuns, elastose, história familiar e lesões pré-malignas não houve melhora da capacidade preditiva. CONCLUSÃO: A capacidade discriminatória do modelo proposto mostrou-se superior ou comparável aos modelos de risco anteriores propostos para melanoma cutâneo. .

Allelic Frequencies of 20 Visible Phenotype Variants in the Korean Population

The prediction of externally visible characteristics from DNA has been studied for forensic genetics over the last few years. Externally visible characteristics include hair, skin, and eye color, height, and facial morphology, which have high heritability. Recent studies using genome-wide association analysis have identified genes and variations that correlate with human visible phenotypes and developed phenotype prediction programs. However, most prediction models were constructed and validated based on genotype and phenotype information on Europeans. Therefore, we need to validate prediction models in diverse ethnic populations. In this study, we selected potentially useful variations for forensic science that are associated with hair and eye color, iris pattern, and facial morphology, based on previous studies, and analyzed their frequencies in 1,920 Koreans. Among 20 single nucleotide polymorphisms (SNPs), 10 SNPs were polymorphic, 6 SNPs were very rare (minor allele frequency < 0.005), and 4 SNPs were monomorphic in the Korean population. Even though the usability of these SNPs should be verified by an association study in Koreans, this study provides 10 potential SNP markers for forensic science for externally visible characteristics in the Korean population.

Optimal dosage of cyclopentolate 1% for cycloplegic refraction in hypermetropes with brown irides.

To find the optimal dosage of cyclopentolate 1% for cycloplegic refraction in hypermetropes with brown irides, we investigated the difference in cycloplegic auto-refractions obtained after one, two, and three instillations in the same patient. The mean hypermetropia found after three instillations was statistically significantly more compared to that found after one instillation. There was no statistically significant difference in the mean hypermetropia between two and three instillations. There was no significant effect of gender, age, and the presence and type of horizontal deviation. These observations suggest that two drops of cyclopentolate 1% 10 min apart are sufficient for cycloplegic refraction in hypermetropes.

Evaluation of ocular surface cytological changes in jaundice

The aim of our work is to evaluate any cytological changes in the ocular surface in Jaundice. Thirty patients with Jaundice due to different causes were included in this study. All cases were from Ain-Shams University Hospital, outpatient clinic, of different age group and of the same social class. Full ophthalmological and Physical examination were done for each patient, in addition to conjunctival Impression C'ytology technique to roll out any Cytological Changes. All data were recorded. Thirty Jaundiced patient were included in this study, with Peak age 31, of the same social class and of different sexes. Full physical examination revealed presence of constitutional symptoms with different mode of onset and with presence of mild abnormalities in general examination in some cases. Full ophthalmological examination revealed no abnormalities other than the yellowish discoloration of the sclerae and conjunctiva. Impression cytology shows a striking criterias in the cytological picture. Impression cytology is a useful tool to find out any ocular surface cytological changes to avoid complications

Eye pigments of the blood-sucking insect, Triatoma infestans klug (Hemiptera, Reduviidae)

A pigmentação de olhos pretos (forma selvagem) e vermelhos (forma mutante) de Triatoma infestans foi estudada por espectrofotometria e comparada à de olhos vermelhos (selvagem) e brancos (mutante) de Drosophila melanogaster. Os perfis do espectro de absorção dos pigmentos de olho preto e vermelho de T. infestans foram semelhantes entre si e ao dos olhos de tipo selvagem de D. melanogaster. A similaridade com a forma selvagem de D. melanogaster indicou que ambos os tipos de olho de T. infestans continham omocromos do tipo xantomatina, o que foi confirmado por cromatografia ascendente em papel. Não foram detectadas pteridinas, melaninas e ominas como pigmentos de olho em T. infestans. A diferença na cor de olho em T. infestans foi considerada uma função da concentração de xantomatina, sendo menor o conteúdo de omocromo nos olhos vermelhos, embora isso provavelmente não afete a acuidade visual do inseto. Esses resultados estão de acordo com dados de outros autores quanto a semelhanças envolvendo outras características entre espécimes de olho preto e vermelho de T. infestans.

Randomized double-blind study of phenylephrine 2.5% vs 10% on pupillary dilation.

PURPOSE: To compare the efficacy of phenylephrine 2.5% versus 10% on pupillary dilation, and also compare their side-effects. METHOD: Patients at the Eye Clinic Srinagarind Hospital were randomized into two groups. Patients in group 1 received 1% tropicamide and 10% phenylephrine, whereas those in group 2 received 1% tropicamide and 2.5% phenylephrine. Pupil diameter, blood pressure and heart rate were measured before and after eyedrop instillation. RESULTS: Five hundred and sixty four patients were randomized into 293 patients (group 1) and 271 patients (group 2), using simple random sampling method. Mean pupil diameters before instillation in group 1 were 4.43 +/- 1.13 mm in the right eye and 4.31 +/- 0.95 mm in the left eye, whereas those in group 2 were 4.45 +/- 1.0 mm in the right eye and 4.32 +/- 0.92 mm in the left eye. After the instillation, the mean pupil diameters in group 1 were 7.58 +/- 0.96 mm in the right eye and 7.60 +/- 1.03 mm in the left eye, whereas those in group 2 were 7.17 +/- 1.04 mm in the right eye and 7.07 +/- 1.06 mm in the left eye. The difference was statistically significant (P < 0.05). There was no significant difference in mean systolic and diastolic blood pressure after instillation between the two groups. However, the mean heart rate after instillation in group 1 was greater than the value in group 2 with statistically significant difference. CONCLUSION: Pupillary dilation with 1% tropicamide and 10% phenylephrine is more effective than 1% tropicamide and 2.5% phenylephrine with statistically significant difference. After single dose instillation, there was no significant difference in the mean blood pressure between the two groups.

Eye color as an indicator of social rank in the fish Nile tilapia

We investigated the association of eye color with the dominant-subordinate relationship in the fish Nile tilapia, Oreochromis niloticus. Eye color pattern was also examined in relation to the intensity of attacks. We paired 20 size-matched fish (intruder: 73.69 ± 11.49 g; resident: 75.42 ± 8.83 g) and evaluated eye color and fights. These fish were isolated in individual aquaria for 10 days and then their eye color was measured 5 min before pairing (basal values). Twenty minutes after pairing, eye color and fights were quantified for 10 min. Clear establishment of social hierarchy was observed in 7 of 10 pairs of fish. Number of attacks ranged from 1 to 168 among pairs. The quartile was calculated for these data and the pairs were then divided into two classes: low-attack (1 to 111 attacks - 2 lower quartiles) or high-attack (112 to 168 attacks - 2 higher quartiles). Dominance decreased the eye-darkening patterns of the fish after pairing, while subordinance increased darkening compared to dominance. Subordinate fish in low-attack confrontations presented a darker eye compared to dominant fish and to the basal condition. We also observed a paler eye pattern in dominants that shared low-attack interactions after pairing compared to the subordinates and within the group. However, we found no differences in the darkening pattern between dominants and subordinates from the high-attack groups. We conclude that eye color is associated with social rank in this species. Moreover, the association between eye color and social rank in the low-attack pairs may function to reduce aggression.

Eye colour as a genetic marker for fertility and fecundity of Triatoma infestans (Klug, 1834) Hemiptera, Reduviidae, Triatominae

Eye colour of Triatoma infestans is controlled at a single autosomal locus, with black-eye as the dominant gene and red-eye as the recessive. Inheritance of these characters follows a classical Mendelian system, enabling eye colour to be used as a marker for studies of mating frequency. We found no significant differences in oviposition rates and egg hatching rates irrespective of parental phenotypes. Different mating schedules between red-eye and black-eye parents showed that eye colour did not affect mating competence. Females mated with a single male or with different males together or in succession produced similar numbers of fertile eggs, with the eye colour of the offspring reflecting exposure to the different males. We conclude that although a single mating can provide sufficient sperm for the whole reproductive life of the female, multiple matings can result in balanced assortative sperm usage from the spermatheca

Contribuição ao estudo da estabilidade cromática em prótese ocular / Weathering effect on color stability in artificial iris painting for ocular prosthetics

A pintura da íris em prótese ocular quando mal executada pode resultar em falhas de reprodução que comprometem a estética. O objetivo deste trabalho foi avaliar a estabilidade de cor das tintas utilizadas em pintura de íris. Para o estudo, 150 discos foram confeccionados em resina acrílica fisicamente ativada por temperatura sendo que a metade teve o acréscimo de um filtro bloqueador de radiação ultravioleta. Foram confeccionadas cinco réplicas para cada cor, tinta e resina a serem analisadas: óleo e automotivas à base de laca nitrocelulose e poliéster nas cores preta, marrom, azul, vermelha e branca, perfazendo um total de 150 corpos-de-prova (CP). Cada CP foi constituído de um disco incolor pintado e um disco igual sendo da coloração da esclera. Os discos foram unidos por meio de resina acrílica quimicamente ativada. Os CP foram submetidos a uma câmara de envelhecimento acelerado com condensação. A leitura das alterações foi realizada por um espectrofotômetro de reflexão, sendo compatível com os resultados visualizados. As três tintas avaliadas apresentaram comportamentos estatisticamente diferentes frente ao envelhecimento acelerado. Quanto aos cinco tipos de pigmento avaliados nas tintas, pode-se afirmar que todos sofreram uma alteração de cor significante em aspectos semelhantes, sendo que os pigmentos preto e marrom apresentaram melhor estabilidade frente aos efeitos de degradação da luz ultravioleta S, do que o vermelho e azul que foram semelhantes entre si. O pigmento branco foi o menos resistente. Os CP com filtro ultravioleta apresentaram melhor estabilidade cromática.

¿Cuál es su diagnóstico? / ¿What is your diagnosis?

Paciente de sexo masculino de tres años de edad, remitido de Saravena, Arauca, porque desde hace dos meses notan los padres que se le puso "la niña del ojo" de color blanco. No hay antecedentes perinatales de importancia, en especial de prematuridad; no refiere trauma ni signos de infección, tampoco hay antecedentes familiares

Ojo rojo / Red eye

Se trata de dar una orientacion en el diagnostico y manejo del "Ojo Rojo", para el medico general y de otras especialidades. Luego de una cuidadosa anamnesis se sugiere realizar el examen fisico ocular y peroocular para detectar la urgencia o no del caso, basados en el ojo rojo puede deberse a varias causas describimos la presentacion, diagnostico diferencial, examenes auxiliares y tratamiento de las diferentes enfermedades, entre estas conderamos a: conjuntivitis, iritis, glaucoma agudo, queratitis, blefaritis, hemorragia subconjuntival. Con esta idea se plantea un panorama diferente para el tratamiento y/o referencia oportunos de este tipo de pacientes con el proposito de preservar la vision en muchos de estos casos