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1.
Cureus ; 15(9): e45090, 2023 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-37842453

RESUMEN

Unilateral corectopia is an exceedingly rare congenital defect where the pupil is displaced from its central position. Usually, it presents with normal visual aperture or associated with other diseases. We describe the first reported case of a left ectopic pupil in a healthy four-year-old boy with normal lens structure and total lack of visual aperture. Reporting such instances contributes to the understanding of this condition and guide future research endeavors. Further studies are needed to reveal the underlying pathophysiology, refine treatment approaches, and assess long-term outcomes.

2.
BMC Ophthalmol ; 23(1): 349, 2023 Aug 08.
Artículo en Inglés | MEDLINE | ID: mdl-37553561

RESUMEN

BACKGROUND: According to previous reports, PAX6-associated foveal hypoplasia (FH) could usually be accompanied by various anterior segment anomalies including variable iris changes. This study aims to exhibit unusual phenotypes of a novel missense variant of PAX6 from a Chinese pedigree. METHODS: Ophthalmic examinations including slit-lamp biomicroscopy, gonioscopy, ophthalmic ultrasound, ultrasonic biomicroscopy, optical coherence tomography, wide-field fundus imaging, and visual field test were performed to evaluate the clinical manifestations. Whole-exome sequencing (WES) and bioinformatics analysis were conducted in eight members from this pedigree to identify the causative mutation. RESULTS: WES revealed a novel heterozygous substitution of PAX6 (NM_000280.5:c.157G > A, p.(Val53Met) (chr11:31823309 C > T, hg19)), which cosegregated with the phenotype of this pedigree. All the three patients (a pair of fraternal twins and their mother) exhibited bilateral FH and anterior segment dysgenesis (ASD) including microcornea, sclerocornea, obvious symmetrical corectopia, iris stromal dysplasia, goniodysgenesis, and abnormal distribution of fundus blood vessels. The girl of the fraternal twins also demonstrated bilateral temporal deviation of lenses and abnormal tissue membrane connecting anterior chamber angle and lens anterior capsule in the right eye. The mother additionally showed apparent cataract bilaterally and cupping of the optic disc in her left eye. CONCLUSION: A novel missense variant in PAX6 gene was detected in a Chinese pedigree demonstrating bilateral FH and ASD. It is really distinctive that the ASD involves almost all parts of the anterior segment, and bilateral symmetrical corectopia is the most perceptible sign. This study expands the phenotypic and genotypic spectrum of PAX6-associated ocular diseases, and facilitates the understanding of the crucial role that PAX6 plays in the development of the eye. Meanwhile, PAX6 could be considered as a candidate pathogenic gene of bilateral symmetrical corectopia.


Asunto(s)
Aniridia , Proteínas de Homeodominio , Femenino , Humanos , Factor de Transcripción PAX6/genética , Proteínas de Homeodominio/genética , Genotipo , Fenotipo , Mutación , Linaje , Proteínas del Ojo/genética , Aniridia/diagnóstico , Aniridia/genética , Aniridia/complicaciones
3.
Am J Med Genet A ; 191(6): 1639-1645, 2023 06.
Artículo en Inglés | MEDLINE | ID: mdl-36941760

RESUMEN

The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated with the syndrome, although this relationship has not been well characterized to date. We conducted a systematic literature review to highlight the ocular features in patients with this deletion syndrome and describe a 7-month-old female who has a 6.07 MB 6p25.1p25.3 deletion and a 4.25 MB 17q25.3 duplication. Our patient presented with multiple congenital anomalies, including macrocephaly, frontal bossing, low set ears, tent-shaped mouth, saddle nose, flat midface, and hearing impairment. Her ophthalmic features included proptosis, down-slanting palpebral fissures, hypertelorism, nystagmus, bilateral posterior embryotoxon, and decentered and abnormally shaped pupils. A systematic review of the published cases with sufficient clinical eye descriptions included 63 cases with a confirmed 6p25 deletion. The most common eye findings observed were posterior embryotoxon, iris hypoplasia, corectopia, cornea opacity, and glaucoma.


Asunto(s)
Anomalías del Ojo , Glaucoma , Humanos , Femenino , Lactante , Deleción Cromosómica , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Glaucoma/genética , Síndrome , Cromosomas
4.
Hum Mutat ; 43(12): 2141-2152, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36208099

RESUMEN

ADAMTSL4 variants are one of the common causes of congenital ectopia lentis (EL), reported ocular comorbidities of which include iris anomalies, cataract, and glaucoma. However, a genotype-phenotype correlation has not been established. Potentially pathogenic ADAMTSL4 variants were screened from a Chinese cohort of congenital EL using panel-based next-generation sequencing followed by multiple bioinformatics analyses. The genotype-phenotype correlation was assessed via a systematic review of ADAMTSL4 variants within our data and those from the literature. A total of 12 variants of ADAMTSL4, including seven frameshift variants, one nonsense variant, two splicing variants, and two missense variants, were found in nine probands. Combing genetic and clinical information from 72 probands in the literature revealed 37 ADAMTSL4 variants known to cause EL, and the ethnic difference was prominent. The lens was inclined to dislocate inferior temporally (22, 27.16%), while the pupil was always located oppositely (9, 81.82%). Several anterior segments anomalies were identified, including ectopia pupillae (15, 18.52%), persistent pupillary membrane (9, 11.10%), poor pupil dilation (4, 30.8%), cataract (13, 24.10%), and glaucoma (8, 13.33%). Genotype-phenotype analysis revealed that truncation variants had higher risks of combined iris anomalies, including either ectopia pupillae or a persistent pupillary membrane (p = 0.007). The data from this study not only extend our knowledge of the ADAMTSL4 variant spectrum but also suggest that deleterious variants of ADAMTSL4 might be associated with severe ocular phenotypes.


Asunto(s)
Catarata , Desplazamiento del Cristalino , Glaucoma , Humanos , Pueblos del Este de Asia , Linaje , Proteínas ADAMTS/genética , Mutación , Desplazamiento del Cristalino/genética , Desplazamiento del Cristalino/patología , Catarata/genética
5.
Arch Soc Esp Oftalmol (Engl Ed) ; 97(3): 172-175, 2022 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-35248400

RESUMEN

We describe two cases of ocular complications secondary to Diode laser assisted eyebrow epilation. Both included patients were women who underwent an eyebrow epilation procedure with Diode laser. A few hours after the procedure they started complaining with photophobia and blurred vision. They were diagnosed with anterior acute uveitis and treated with topical steroids and mydriatics. During the follow-up the presence of sequelae derived from the laser procedure (mydriasis and corectopia in both patients, cataract in the second one) was confirmed. Laser hair removal of the eyebrows can induce irreversible eye damage. Complete and reliable information regarding the potential side effects of this procedure and proper use of appropriate safety devices is mandatory. We point out the importance of the potential ocular side effects associated with these cosmetic devices.


Asunto(s)
Catarata , Remoción del Cabello , Trastornos de la Pupila , Catarata/etiología , Cejas , Femenino , Remoción del Cabello/efectos adversos , Remoción del Cabello/métodos , Humanos , Láseres de Semiconductores/efectos adversos , Trastornos de la Pupila/etiología
6.
Arch. Soc. Esp. Oftalmol ; 97(3): 172-175, mar. 2022.
Artículo en Español | IBECS | ID: ibc-208836

RESUMEN

Se describen dos casos clínicos de complicaciones oftalmológicas secundarias a depilación con láser diodo de las cejas.Los dos pacientes incluidos son mujeres que, horas después de someterse a un procedimiento de depilación con láser diodo en la zona de las cejas, presentan fotofobia y visión borrosa. Ambas son diagnosticadas de uveítis anterior aguda y tratadas con corticoides tópicos y midriáticos. En el seguimiento se constata la presencia de secuelas (midriasis y corectopia en ambas pacientes, catarata en la segunda) derivadas del procedimiento láser.El tratamiento con láser depilatorio de las cejas puede inducir daños oculares irreversibles. Es necesario informar a los usuarios de estas técnicas de los riesgos que conllevan y utilizar dispositivos de seguridad.Destacamos la importancia de los efectos secundarios oftalmológicos derivados del uso de estos láseres (AU)


We describe two cases of ocular complications secondary to Diode laser assisted eyebrow epilation.Both included patients were women who underwent an eyebrow epilation procedure with Diode laser. A few hours after the procedure they started complaining with photophobia and blurred vision. They were diagnosed with anterior acute uveitis and treated with topical steroids and mydriatics. During the follow-up the presence of sequelae derived from the laser procedure (mydriasis and corectopia in both patients, cataract in the second one) was confirmed.Laser hair removal of the eyebrows can induce irreversible eye damage. Complete and reliable information regarding the potential side effects of this procedure and proper use of appropriate safety devices is mandatory.We point out the importance of the potential ocular side effects associated with these cosmetic devices (AU)


Asunto(s)
Humanos , Femenino , Adulto , Cejas , Remoción del Cabello/efectos adversos , Láseres de Semiconductores/efectos adversos , Uveítis Anterior/etiología , Midriasis/etiología , Fotofobia/etiología , Catarata/etiología
7.
Semin Ophthalmol ; 37(1): 105-110, 2022 Jan 02.
Artículo en Inglés | MEDLINE | ID: mdl-34057013

RESUMEN

OBJECTIVES: To present and validate the novel grading system for objective classification of corectopia. SUBJECTS AND METHODS: We evaluated 28 eyes of 28 patients with or without corectopia and validated the grading and classification system for corectopia according to three major criteria: (i) direction, (ii) extent, and (iii) alteration of mydriasis. Intraclass correlation coefficient (ICC) and inter-rater agreement between 7 inexperienced and 1 experienced ophthalmologist against a golden standard (GS) were calculated. RESULTS: The ICC for the 7 inexperienced ophthalmologists regarding the grading of direction and centration of the pupil was 0.83 (95% confidence interval (CI), 0.74 to 0.90; p < .001) and 0.57 (95% CI, 0.43 to 0.72; p < .001), respectively. The inter-rater agreement was the same or almost the same in cases of pupil decentration between the inexperienced, experienced ophthalmologists and the GS (k = 0.82; 95% CI, 0.64-1.00; p < .001). In assessing the direction of pupil displacement, the inter-rater agreement was almost perfect between the inexperienced (k = 0.93; 95% CI, 0.84-1.00; p < .001) and experienced (k = 0.92; 95% CI: 0.82-1.02; p < .001) ophthalmologists and the GS. CONCLUSION: The first detailed clinical classification is proposed for objective corectopia grading particularly relevant in documenting and assessing progressive disease. It was confirmed to be acceptable for clinical use by inexperienced and experienced ophthalmologists alike.


Asunto(s)
Trastornos de la Pupila , Humanos , Variaciones Dependientes del Observador , Pupila , Reproducibilidad de los Resultados
8.
BMC Ophthalmol ; 21(1): 154, 2021 Mar 29.
Artículo en Inglés | MEDLINE | ID: mdl-33781219

RESUMEN

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant eye disorder that can also affect other organs of the human body. The condition is primarily characterized by the anterior segmental abnormalities of the eye. Here, we present an observational case series of a three-generation family with ARS and unexpected foveal anomaly. CASE PRESENTATION: A 33-year-old woman was admitted to an Ophthalmology Clinic in Bialystok for left eye congenital cataract surgery. The patient (proband) was diagnosed with visual deterioration, multiple defects of iris, corectopia, displacement of the Schwalbe's line, and phenotypic characteristics of ARS. A perimetric examination indicated peripheral visual field loss and signs typical for glaucoma. Based on the phenotypic symptoms and genetic test, the patient was diagnosed with Axenfeld Rieger Syndrome. However, the optical coherence tomography of the macula showed foveal anomaly (absence of the physiological pit), which is not typically associated with this genetic disorder. The patient's family history revealed that her two daughters were undergoing treatment for congenital glaucoma, and one of the daughters also had foveal anomaly the same as her mother. Interestingly, an examination of the patient's mother showed typical phenotypic features of ARS such as a defect of the iris, posterior embryotoxon, and coloboma, as well as foveal anomaly. A genetic test confirmed PITX2 mutation in both, proband's two daughters and mother. CONCLUSIONS: This study highlights the occurrence of ARS with unusual ophthalmic features such as foveal anomaly (absence of the physiological pit) in a three-generation family. Although ARS is known to represent the developmental defects of the anterior segment of the eye, it is very important to perform fundus evaluation to identify associated posterior segment anomalies that may affect visual acuity. The presence of ocular defects not typically associated with ARS suggests a wide spectrum of mutations within PITX2 gene which are required to identify in order to determine genotype- phenotype correlation in ARS affected individuals.


Asunto(s)
Anomalías Múltiples , Anomalías del Ojo , Adulto , Segmento Anterior del Ojo/anomalías , Segmento Anterior del Ojo/diagnóstico por imagen , Anomalías del Ojo/diagnóstico , Anomalías del Ojo/genética , Enfermedades Hereditarias del Ojo , Femenino , Humanos , Linaje
9.
Artículo en Inglés, Español | MEDLINE | ID: mdl-33298354

RESUMEN

We describe two cases of ocular complications secondary to Diode laser assisted eyebrow epilation. Both included patients were women who underwent an eyebrow epilation procedure with Diode laser. A few hours after the procedure they started complaining with photophobia and blurred vision. They were diagnosed with anterior acute uveitis and treated with topical steroids and mydriatics. During the follow-up the presence of sequelae derived from the laser procedure (mydriasis and corectopia in both patients, cataract in the second one) was confirmed. Laser hair removal of the eyebrows can induce irreversible eye damage. Complete and reliable information regarding the potential side effects of this procedure and proper use of appropriate safety devices is mandatory. We point out the importance of the potential ocular side effects associated with these cosmetic devices.

10.
Vestn Oftalmol ; 136(5. Vyp. 2): 237-240, 2020.
Artículo en Ruso | MEDLINE | ID: mdl-33063971

RESUMEN

The authors present a clinical case of central opacification of the intraocular lens (IOL) optic associated with a significant uncorrectable visual acuity decrease. Due to high surgical risks of IOL exchange, corectopia was achieved through sectoral laser photomydriasis. Stable dilation of the lower nasal sector of the pupil enabled the optical zone to be shifted outside the opaque area of the IOL. As shown by the perimetry results, the visual field borders enlarged through sectoral laser photomydriasis were comparable with the topography of the asymmetrically dilated pupil.


Asunto(s)
Lentes Intraoculares , Falla de Prótesis , Ojo Artificial , Humanos , Óptica y Fotónica , Agudeza Visual
11.
Front Neurol ; 10: 75, 2019.
Artículo en Inglés | MEDLINE | ID: mdl-30792689

RESUMEN

The dynamic oval pupil is defined and its distinction from corectopia, as well as their different clinical significance is proposed. A literature search for instances presenting this condition yielded only 20 such cases with enough clinical data. A review of these cases allows us to draw some tentative conclusions regarding the most likely anatomical location for its causative lesion and the pathophysiological mechanism responsible for its occurrence.

12.
Graefes Arch Clin Exp Ophthalmol ; 256(11): 2157-2164, 2018 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-30167917

RESUMEN

PURPOSE: Aniridia is a rare panocular disorder caused by mutations in the PAX6 gene and characterized mainly by iris hypoplasia. Here, we present six families with a history of low vision/blindness with a previously undiagnosed mild aniridia phenotype with minimal iris changes. METHODS: Retrospective case series of patients diagnosed with a subtle aniridia phenotype characterized by minimal iris abnormalities, foveal hypoplasia, and an identified mutation in PAX6. Data collection from patient's charts included ocular examination findings, visual acuity, refraction, and clinical pictures when available. Genetic analysis was performed by isolation of genomic DNA from peripheral blood. The main outcome was the identification of patients with mild aniridia harboring a PAX6 mutation. RESULTS: In all six families, the phenotype included minimal corectopia and foveal hypoplasia; nystagmus was present in 10 out of 11 patients. A PAX6 mutation was identified in all six families; three of these mutations were identified previously, and three are novel mutations. All the mutations are located within the conventional 128-residue paired domain of PAX6. CONCLUSIONS: A mild form of aniridia should be considered in the differential diagnosis of patients with low vision associated with mild iris abnormalities, nystagmus, and foveal hypoplasia. To ensure an accurate diagnosis of aniridia, minimal pupillary changes and/or incipient keratopathy should be examined. The broad phenotypic heterogeneity among aniridia leads to the fact that eye care clinicians must have a high index of suspicion for the disease when seeing undiagnosed low vision patients, because proper diagnosis can improve management as well as facilitate genetic testing and counselling.


Asunto(s)
Aniridia/diagnóstico , Ceguera/diagnóstico , Enfermedades Hereditarias del Ojo/diagnóstico , Mutación Missense , Baja Visión/diagnóstico , Adulto , Anciano , Aniridia/genética , Aniridia/fisiopatología , Ceguera/genética , Ceguera/fisiopatología , Niño , Preescolar , Enfermedades Hereditarias del Ojo/genética , Enfermedades Hereditarias del Ojo/fisiopatología , Femenino , Humanos , Masculino , Persona de Mediana Edad , Factor de Transcripción PAX6/genética , Linaje , Fenotipo , Refracción Ocular/fisiología , Estudios Retrospectivos , Baja Visión/genética , Baja Visión/fisiopatología , Agudeza Visual/fisiología , Adulto Joven
13.
Am J Med Genet A ; 176(2): 426-430, 2018 02.
Artículo en Inglés | MEDLINE | ID: mdl-29230941

RESUMEN

Myhre syndrome is a rare autosomal dominant disorder caused by a narrow spectrum of missense mutations in the SMAD4 gene. Typical features of this disorder are distinctive facial appearance, deafness, intellectual disability, cardiovascular abnormalities, short stature, short hands and feet, compact build, joint stiffness, and skeletal anomalies. The clinical features generally appear during childhood and become more evident in older patients. Therefore, the diagnosis of this syndrome in the first years of life is challenging. We report a 2-year-old girl diagnosed with Myhre syndrome by whole exome sequencing (WES) that revealed the recurrent p.Ile500Val mutation in the SMAD4 gene. Our patient presented with growth deficiency, dysmorphic features, tetralogy of Fallot, and corectopia (also known as ectopia pupillae). The girl we described is the youngest patient with Myhre syndrome. Moreover, corectopia and tetralogy of Fallot have not been previously reported in this disorder.


Asunto(s)
Criptorquidismo/genética , Trastornos del Crecimiento/genética , Deformidades Congénitas de la Mano/genética , Discapacidad Intelectual/genética , Trastornos de la Pupila/genética , Proteína Smad4/genética , Tetralogía de Fallot/genética , Anomalías Múltiples/genética , Anomalías Múltiples/fisiopatología , Preescolar , Criptorquidismo/complicaciones , Criptorquidismo/fisiopatología , Facies , Femenino , Trastornos del Crecimiento/complicaciones , Trastornos del Crecimiento/fisiopatología , Deformidades Congénitas de la Mano/complicaciones , Deformidades Congénitas de la Mano/fisiopatología , Humanos , Discapacidad Intelectual/complicaciones , Discapacidad Intelectual/fisiopatología , Mutación , Fenotipo , Trastornos de la Pupila/fisiopatología , Tetralogía de Fallot/complicaciones , Tetralogía de Fallot/fisiopatología , Secuenciación del Exoma
14.
Eur J Med Genet ; 61(1): 21-23, 2018 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-29024830

RESUMEN

Baraitser-Winter syndrome was first described as a syndrome of iris coloboma, ptosis, hypertelorism, and mental retardation (Baraitser and Winter 1988; Baraitser, 2016). The phenotypic spectrum has since broadened to include other facial dysmorphic features, deafness, microcephaly, lissencephaly, and CNS findings (Baraitser and Winter 1988; Ganesh et al., 2005; Henedy et al., 2010; Verloes et al., 2015). The syndrome is due to pathogenic variants on either ACTB or ACTG1 genes (Di Donato et al., 2014; Rivière et al., 2012). There is still discussion which gene variant produces a more severe phenotype (Di Donato et al., 2016; Di Donato et al., 2014; Verloes et al., 2015). We report a 3-year-old girl with short stature, mild global developmental delay, minor brain anomalies and few dysmorphic features including unusual stroma of the irises and unreported corectopia. Exome sequencing reported a de novo likely pathogenic variant on the ACTB gene. The present report adds a new ocular finding to the phenotypic spectrum.


Asunto(s)
Coloboma/patología , Anomalías Craneofaciales/patología , Discapacidad Intelectual/patología , Iris/patología , Actinas/genética , Preescolar , Coloboma/genética , Anomalías Craneofaciales/genética , Femenino , Humanos , Discapacidad Intelectual/genética , Fenotipo , Síndrome
15.
Arch Soc Esp Oftalmol ; 91(9): 422-5, 2016 Sep.
Artículo en Inglés, Español | MEDLINE | ID: mdl-26996049

RESUMEN

OBJECTIVE: To evaluate a series of case that developed iris changes after performing Descemet's stripping automated endothelial keratoplasty (DSAEK). METHODS: Retrospective study of eyes that developed iris abnormalities, such as pupil ovalisation, iris atrophy, iridocorneal synechiae, mydriatic pupil, and pigmentary changes after performing DSAEK in a tertiary hospital. RESULTS: In a series of the first 32 DSAEK procedures performed, new single or mixed iris alterations were observed in 12 eyes (37.5%). Iris-corneal synechiae were observed in 7 eyes, corectopias in 9 eyes, iris atrophy in 3 cases, and one case developed an areflexic mydriatic pupil. Long-term pigment dispersion at the edge of the lenticule was observed in 12 eyes. The alterations occurred after three months from the surgery. In the evaluation of the associated factors, malignant glaucoma had occurred in 1 case, 2 eyes had required a second surgery, one case by re-DSAEK, and the other one by removing the intraocular lens due to lens opacification. Two cases had a shallow anterior chamber. No relationship was found between the thickness of the peripheral lenticule and the presence of synechiae. CONCLUSION: Iris changes regarding DSAEK are possible. A discussion is presented on the relationship between increased intraocular pressure due to air in anterior chamber and its relationship with ischaemia and secondary alterations in the iris.


Asunto(s)
Queratoplastia Endotelial de la Lámina Limitante Posterior , Enfermedades del Iris/etiología , Complicaciones Posoperatorias/etiología , Atrofia , Queratoplastia Endotelial de la Lámina Limitante Posterior/efectos adversos , Síndrome de Exfoliación/epidemiología , Síndrome de Exfoliación/etiología , Glaucoma/epidemiología , Glaucoma/etiología , Humanos , Presión Intraocular , Iris/patología , Enfermedades del Iris/epidemiología , Isquemia/epidemiología , Isquemia/etiología , Midriasis/epidemiología , Midriasis/etiología , Complicaciones Posoperatorias/epidemiología , Trastornos de la Pupila/epidemiología , Trastornos de la Pupila/etiología , Reoperación , Estudios Retrospectivos
16.
J Oral Maxillofac Pathol ; 19(1): 109, 2015.
Artículo en Inglés | MEDLINE | ID: mdl-26097324

RESUMEN

This article reports an unusual case of Axenfeld-Rieger Syndrome (ARS) associated with severe maxillofacial and skeletal anomalies. A 55-year-old man with ARS revealed interesting and unexpected radiological findings. Severe maxillofacial and skeletal anomalies, in addition to the well-recognized extraocular findings, that occurs in patients with ARS is reported and our case highlights this possible rare association between ARS and maxillofacial and skeletal anomalies.

17.
Middle East Afr J Ophthalmol ; 21(3): 262-4, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25100913

RESUMEN

Optic nerve (ON) aplasia is a rare developmental anomaly comprising of absence of the ON, ganglion cells and the central retinal vessels. It is usually accompanied by a variety of central nervous system (CNS) malformations. We report an extremely rare case of bilateral true ON aplasia occurring as an isolated CNS anomaly. A 10-month-old female child was detected with bilateral absence of fixation, associated with multiple ocular findings of microcornea, anterior embryotoxon, pupillary corectopia, partial aniridia and lens coloboma. The optic disc locations were visible as avascular whitish areas. There were no retinal vessels seen in the disc area or elsewhere. There were bilateral multiple chorioretinal atrophic patches present. B-scan ultrasonography showed bilateral absence of ONs. Magnetic resonance imaging showed thinned out bilateral ONs with a hypoplastic optic chiasma and optic tract. There were no other CNS anomalies. Flash visually evoked potential was unrecordable.


Asunto(s)
Disco Óptico/anomalías , Enfermedades del Nervio Óptico/diagnóstico , Vasos Retinianos/anomalías , Femenino , Humanos , Lactante , Imagen por Resonancia Magnética , Quiasma Óptico/anomalías
18.
Rev. medica electron ; 33(4)jul.-ago. 2011. ilus
Artículo en Español | CUMED | ID: cum-49477

RESUMEN

Se presenta un caso clínico en el municipio Cristóbal Rojas, estado Miranda, República Bolivariana de Venezuela, con el diagnóstico de síndrome endotelial iridocorneal (atrofia esencial de iris) en un paciente del sexo masculino, con una buena evolución de su cuadro clínico, controlado solo con hipotensores oculares. Este síndrome se observa en el sexo femenino fundamentalmente, y es una entidad poco frecuente, no solo dentro de las enfermedades oftalmológicas sino también dentro del grupo de los glaucomas, y de muy mal pronóstico(AU)


We present a clinical case from the municipality Cristobal Rojas, Miranda State, Bolivarian Republic of Venezuela, with the diagnostic of iridocorneal endothelial syndrome (the iris essential atrophy) in a male patient, with a good evolution, only controlled with ocular hypotensors. This syndrome is observed mainly in the female genre, and it is a little frequent entity, not only among the ophthalmologic diseases but also among the glaucoma group. It has a very bad prognosis(AU)


Asunto(s)
Humanos , Masculino , Adulto , Enfermedades del Iris/diagnóstico , Enfermedades del Iris/complicaciones , Glaucoma de Ángulo Cerrado/complicaciones , Edema Corneal/complicaciones , Venezuela
19.
Rev. medica electron ; 33(4): 523-527, jul.-ago. 2011.
Artículo en Español | LILACS | ID: lil-615856

RESUMEN

Se presenta un caso clínico en el municipio Cristóbal Rojas, estado Miranda, República Bolivariana de Venezuela, con el diagnóstico de síndrome endotelial iridocorneal (atrofia esencial de iris) en un paciente del sexo masculino, con una buena evolución de su cuadro clínico, controlado solo con hipotensores oculares. Este síndrome se observa en el sexo femenino fundamentalmente, y es una entidad poco frecuente, no solo dentro de las enfermedades oftalmológicas sino también dentro del grupo de los glaucomas, y de muy mal pronóstico.


We present a clinical case from the municipality Cristobal Rojas, Miranda State, Bolivarian Republic of Venezuela, with the diagnostic of iridocorneal endothelial syndrome (the iris essential atrophy) in a male patient, with a good evolution, only controlled with ocular hypotensors. This syndrome is observed mainly in the female genre, and it is a little frequent entity, not only among the ophthalmologic diseases but also among the glaucoma group. It has a very bad prognosis.


Asunto(s)
Humanos , Masculino , Adulto , Edema Corneal/complicaciones , Enfermedades del Iris/complicaciones , Enfermedades del Iris/diagnóstico , Glaucoma de Ángulo Cerrado/complicaciones , Venezuela
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