RESUMO
Background: A cataract is an opacity of the crystalline structure that results in impaired vision. The congenital form manifests itself at birth or shortly thereafter and might also be inherited and therefore capable of passing on to descendants. Cataracts can be caused by systemic diseases, medications, toxic substances, radiation, metabolic alterations, dietary deficiencies, inflammation, traumatic injuries, age, or genetic factors. The few Blackbelly sheep herds are located in the northeast and north regions of Brazil and are considered rare, which could result in high levels of consanguinity. In this context, we report a case of congenital cataract in a Blackbelly lamb and its possible etiology. Case: A 3-month-old lamb presented with ophthalmic alterations since birth, with white and cloudy spots in both eyes and impaired vision. In the same herd, 3 elderly sheep showed similar ophthalmic alterations. The lamb was able to follow its dam, but when walking, bumped into small objects or very close to his vision field. The lamb managed to follow the herd and dodge large objects, suggesting partial vision loss. During a physical examination, both lens showed opacity and reduced corneal reflex, pupillary reflex to direct light, pupillary reflex to consensual light, and threat reflex. Ultrasonographic examination revealed that both lens presented hyperechogenicity. Hematological values were within the reference limits. In the same herd, three elderly sheep presented bilateral cataracts (2 rams and 1 ewe) in previous years, which at that time was attributed to natural aging. One ram was the lamb's grandfather. The other ram was the father of the female, both with cataracts. Based on history, physical examination, and complementary examinations, the lamb was diagnosed with bilateral congenital cataracts with a probable hereditary condition. Discussion: Multiple factors can be related to the etiology of cataracts, and it can be difficult to establish the correct etiology. Regarding the age of onset, cataracts can be classified mainly as congenital and senile. Senile cataract is a bilateral opacification process that involves the entire lens, with slow progression and gradual loss of vision with increasing age. In adult sheep, the high proportion of eyes affected by spontaneously arising cataracts could be related to age, increased exposure to sunlight, increased genetic susceptibility, or a combination of these factors. In this case, the herd had three adult elderly sheep with cataracts previously characterized as senile. However, after reviewing the genealogy, it was found that all animals had some degree of parentage, suggesting a hereditary factor. Congenital cataracts are expressed soon after birth, resulting from the malformation of fibers in the lens, and are generally nonprogressive. The congenital form may or may not be associated with hereditary factors. Inheritance cataracts have been reported in several breeds of dogs and usually occur as an autosomal recessive trait. Blackbelly sheep are rare in Brazil, favoring consanguinity, so we believe that cataracts are inherited in this herd. To control this ophthalmic alteration, all animals with crystalline opacities were excluded from reproduction, and the herd should be monitored in future cases.
Assuntos
Animais , Catarata/congênito , Catarata/etiologia , Ovinos , Cristalino/anormalidadesRESUMO
A 42-year-old woman was admitted to our clinic with a complaint of glare in both eyes. Biomicroscopic examination of both the eyes revealed iris and lens colobomas in the inferior quadrant. Fundus examination of the right eye revealed an oval and gray inferotemporal optic pit and two choroid colobomas in the inferior quadrant. In the left eye, two choroid colobomas were detected that were inferior to the optic nerve head. Furthermore, a 21-year-old man presented to our clinic for a routine ophthalmologic examination. Bilateral biomicroscopic examination was normal. Fundus examination of the left eye revealed an oval and gray inferotemporal optic pit and a choroid coloboma that was inferior to the optic nerve head. Here we describe optic pits co-occurring with iris, lens, and choroidal colobomas. On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit.
Assuntos
Corioide/anormalidades , Coloboma/patologia , Iris/anormalidades , Cristalino/anormalidades , Disco Óptico/anormalidades , Adulto , Corioide/diagnóstico por imagem , Corioide/patologia , Coloboma/diagnóstico por imagem , Feminino , Angiofluoresceinografia/métodos , Fundo de Olho , Humanos , Iris/diagnóstico por imagem , Iris/patologia , Cristalino/diagnóstico por imagem , Cristalino/patologia , Masculino , Disco Óptico/diagnóstico por imagem , Disco Óptico/patologia , Tomografia de Coerência Óptica/métodos , Acuidade Visual , Adulto JovemRESUMO
ABSTRACT A 42-year-old woman was admitted to our clinic with a complaint of glare in both eyes. Biomicroscopic examination of both the eyes revealed iris and lens colobomas in the inferior quadrant. Fundus examination of the right eye revealed an oval and gray inferotemporal optic pit and two choroid colobomas in the inferior quadrant. In the left eye, two choroid colobomas were detected that were inferior to the optic nerve head. Furthermore, a 21-year-old man presented to our clinic for a routine ophthalmologic examination. Bilateral biomicroscopic examination was normal. Fundus examination of the left eye revealed an oval and gray inferotemporal optic pit and a choroid coloboma that was inferior to the optic nerve head. Here we describe optic pits co-occurring with iris, lens, and choroidal colobomas. On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit.
RESUMO Uma mulher de 42 anos de idade foi internada em nossa clínica com queixa de ofuscamento em ambos os olhos. O exame biomicroscópico revelou coloboma de íris e cristalino no quadrante inferior em ambos os olhos. O exame de fundo do olho direito revelou um fosseta óptica oval e acinzentada na região inferotemporal e dois colobomas coroide no quadrante inferior. No olho esquerdo, dois colobomas de coroide foram detectados inferiormente à da cabeça do nervo óptico. Outro homem de 21 anos apresentou-se em nossa clínica para um exame oftalmológico de rotina. O exame biomicroscópico foi normal, bilateralmente. O exame de fundo do olho esquerdo revelou uma fosseta oval e acinzentada de nervo óptico óptico inferotemporal e um coloboma coroide inferior à cabeça do nervo óptico. Nestes relatos nós descrevemos fossetas ópticas ocorrendo simultaneamente com colobomas de íris, cristalino, e coroide. Com base nestes casos, o defeito no fechamento da fissura embrionária é uma provável etiologia da fosseta óptica.
Assuntos
Humanos , Masculino , Feminino , Adulto , Adulto Jovem , Disco Óptico/anormalidades , Coloboma/patologia , Iris/anormalidades , Corioide/anormalidades , Cristalino/anormalidades , Disco Óptico/patologia , Disco Óptico/diagnóstico por imagem , Angiofluoresceinografia/métodos , Acuidade Visual , Coloboma/diagnóstico por imagem , Iris/patologia , Iris/diagnóstico por imagem , Corioide/patologia , Corioide/diagnóstico por imagem , Tomografia de Coerência Óptica/métodos , Fundo de Olho , Cristalino/patologia , Cristalino/diagnóstico por imagemRESUMO
The fish Astyanax mexicanus presents, within the same species, populations of river-dwelling surface fish (SF) and blind cave-living fish. In cavefish (CF), the eyes develop almost normally during embryogenesis. But 40 h after fertilization, the lens enters apoptosis, triggering the progressive degeneration of the entire eye. Before apoptosis, the CF lens expresses early differentiation factors correctly. Here, we searched for possible late differentiation defects that would be causal in CF lens degeneration. We reasoned that crystallins, the major lens structural proteins, could be defective or misregulated. We surveyed the CF and SF transcriptomes and uncovered 14 Astyanax crystallins from the beta, gamma, lambda, mu, and zeta families. These proteins are less polymorphic and accumulate more fixed mutations, some at highly conserved positions, in CF than in SF, suggesting relaxed selection at these loci in CF. In situ hybridizations and qPCR show that crybb1c, crybgx, crygm5 are expressed at much lower levels or are not expressed in the CF lens. For the best crystallin candidates, we tested a potential causal role in CF lens apoptosis. Crybgx, crybb1c (not expressed in CF from very early on), and cryaa (previously shown to be faintly expressed in CF) failed to induce any defect when knocked-down in zebrafish embryos. However, the anti-apoptotic cryaa protected lens cells from apoptosis when reexpressed by transgenesis in CF, suggesting a cell-autonomous effect of cryaa on lens cell survival. Altogether, these data suggest that crystallin sequence evolution and expression defects may contribute to the loss of eyes in CF.
Assuntos
Evolução Molecular , Regulação da Expressão Gênica no Desenvolvimento/fisiologia , Cristalino/metabolismo , Peixe-Zebra/metabolismo , alfa-Cristalinas/metabolismo , Animais , Apoptose/fisiologia , Diferenciação Celular/fisiologia , Sobrevivência Celular/fisiologia , Cristalino/anormalidades , Transcriptoma/fisiologia , Peixe-Zebra/embriologia , Peixe-Zebra/genéticaRESUMO
PURPOSE: To present the results of the clinical and molecular analyses of a familial case of Wolfram Syndrome (WFS) associated with a novel ocular anomaly. METHODS: Full ophthalmologic examination was performed in two WFS siblings. Visante OCT imaging was used for assessing anterior segment anomalies. Genetic analysis included PCR amplification and exon-by-exon nucleotide sequencing of the WFS1 gene. RESULTS: Ocular anomalies in both affected siblings included congenital cataract, glaucoma, and optic atrophy. Interestingly, microspherophakia, a feature that has not been previously associated with WFS, was observed in both siblings. Genetic analysis disclosed a novel c.1525_1539 homozygous deletion in exon 8 of WFS1 in DNA from both affected patients. CONCLUSIONS: The recognition of microspherophakia in two siblings carrying a novel WFS1 mutation expands the clinical and molecular spectrum of Wolfram syndrome.
Assuntos
Cromossomos Humanos Par 4/genética , Anormalidades do Olho/genética , Cristalino/anormalidades , Proteínas de Membrana/genética , Deleção de Sequência , Síndrome de Wolfram/genética , Adolescente , Sequência de Bases , Éxons/genética , Anormalidades do Olho/diagnóstico , Feminino , Humanos , Dados de Sequência Molecular , Linhagem , Reação em Cadeia da Polimerase , Irmãos , Tomografia de Coerência Óptica , Síndrome de Wolfram/diagnóstico , Adulto JovemRESUMO
Relato de caso de um paciente de 18 anos com sindrome de Alport apresentando perda visual progressiva. A biomicroscopia revelou lenticone anterior bilateral. O paciente realizou tomografia de córnea e segmento anterior com o sistema Scheimpflug (Pentacam) e aberrometria e topografia corneana (i-Trace). O paciente foi submetido à facoemulsificação com implante de lente intraocular peça única hidrofóbica (Acrysof® SN60AT). As imagens de Scheimpflug documentaram o lenticone anterior. A aberrometria total mostrou acentuado astigmatismo miópico com acentuada aberração esférica negativa, havendo grande impacto das aberrações de alta ordem (HOA) na conversão da letra E de Snellen. O mapa de integração da aberrometria do olho todo com a topografia corneana mostrou maior semelhança das aberrrações totais com as aberrações intraoculares do que com as aberrações da superfície anterior da córnea. Após a cirurgia, o paciente apresentou acuidade visual corrigida igual a 20/20 em ambos os olhos, as imagens de Scheimpflug revelaram lentes intraoculares tópicas e os mapas diferenciais revelaram resolução da miopia e redução das aberrações da alta ordem (total e interna). Os exames de imagem foram úteis para demonstrar o impacto do lenticone anterior na qualidade visual e a resolução das aberrações ópticas após a cirurgia.
Case report of a 18-year-old male patient with Alport's syndrome, who presented with renal failure and hearing loss reporting a progressive loss of vision acuity. Slitlamp examination revealed bilateral anterior lenticonus. The patient underwent pre and post-operative corneal and anterior segment tomography with a rotating Scheimpflug system (Pentacam), integrated whole eye (individual laser beam ray tracing) and corneal surface (Placido) wavefront aberrometry (i-Trace). Phacoemulsification and single piece hydrophobic IOL implantation (Acrysof® SN60AT) was performed uneventfully in both eyes. Pre op Scheimpflug well decomented the anterior lenticonus. Total aberrometry showed myopic astigmatisms with high negative spherical aberrations OU; higher order aberrations (HOAs) greatly influenced the conversion of Snellen E letters. Total aberrations and corneal topographies integration maps OU demonstrated high levels of intraocular aberrations which had more similarity with whole eye aberrations than anterior corneal aberrations. After surgery, BCVA was 20/20 in both eyes. Scheimpflug images revealed topic intraocular lens and the differential maps showed resolution of myopia and decrease of the total ocular HOAs as well as from the internal optics. Adjunctive advanced diagnostic tools were useful to demonstrate the anterior lenticonus and its optical impact along with the resolution of the aberrations post operatively.
Assuntos
Humanos , Masculino , Adolescente , Facoemulsificação/métodos , Cristalino/anormalidades , Cristalino/cirurgia , Doenças do Cristalino/cirurgia , Doenças do Cristalino/diagnóstico , Nefrite Hereditária/complicações , Fotografação , Acuidade Visual , Implante de Lente Intraocular , Técnicas de Diagnóstico Oftalmológico , Insuficiência Renal , Aberrometria , Microscopia com Lâmpada de Fenda , Perda Auditiva , Cristalino/patologia , Doenças do Cristalino/etiologia , Segmento Anterior do Olho/patologiaRESUMO
Se ha señalado que las cataratas seniles están asociadas con cambios muy marcados en la actividad enzimática del cristalino. Por esta razón, en el presente estudio se determinó la actividad de las siguientes enzimas: aldolasa (ALD), isocítrico dehidrogenasa (ICD), colinesterasa (CHE), leucín aminopeptidasa (LAP), 5ïNucleotidasa (5ï-N) y ceruloplasmina (Cp) en cataratas seniles y en cristalinos sanos. La actividad enzimática en el cristalino normal es similar a la que se detecta en las diferentes especies. En las cataratas seniles se encontró una disminución (p<0,05) en la actividad de ALD, ICD, LAP y 5ï-N, sin cambio en la CHE y en la Cp. La disminución en las enzimas glucolíticas (aldolasa e isocítrico dehidrogenasa) determinan un "bloqueo parcial" de la glicólisis necesaria para producir la energía y mantener la transparencia del cristalino. La reducción en la actividad de la LAP favorece la acumulación, la agregación y la precipitación de las proteínas y de los péptidos que se produce en los cristalinos envejecidos. Estos agregados se consideran importantes en el desarrollo de la catarata. La pérdida de Zn elevado a la 2+ en las cataratas seniles explica en parte la disminución de la 5ï-N y de la LAP. Se discuten estos resultados y se concluye que los cambios enzimáticos alteran el metabolismo normal del cristalino y causan la catarata senil. Es de interés señalar que la 5ï-N y la ceruloplasmina es la primera vez que se miden en el cristalino tanto normal como cataratoso. La Cp representa un mecanismo de protección contra los radicales libres que se generan por efecto de la luz sobre el cristalino y otros tejidos oculares y será objeto de estudios ulteriores
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Catarata/enzimologia , Enzimas/classificação , Cristalino/anormalidades , OftalmologiaRESUMO
A aniridia é uma síndrome frequentemente associada a defeitos oculares múltiplos que podem acometer íris, córnea, cristalino, câmara anterior, nervo óptico e retina, além de alteraçöes sistêmicas como Tumor de Wilms, retardo mental, anomalias gênito-urinárias em uma mesma família, onde foram acometidos a mäe, duas filhas e um filho. A herança provável foi autossômica dominante e o estudo do cariótipo mostrou-se normal. O tecido iriano hipolásico foi de difícil visualizaçäo, observado apenas à gonioscopia. Apareceram alteraçöes corneanas como cicatrizes centrais e neovasos periféricos, como um "pannus" em toda a circunferência. Observaram-se grande incdência de catarata e coloboma de cristalino. A hipoplasia de papila ocorreu em todos os casos estudados