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Congenital ocular anomalies may be detected on prenatal imaging using fetal ultrasound and magnetic resonance imaging (MRI), although standard prenatal ultrasound for fetal physical development does not currently include ocular and orbital evaluation. We present the case of a male infant born at 39 weeks' gestation with microphthalmia with cyst that was characterized using serial multimodal imaging, including fetal ultrasound and MRI, B-scan ultrasonography, ultrasound biomicroscopy, and postnatal MRI. Multiple prenatal and postnatal imaging modalities yielded comparable evaluations of the ocular and orbital pathology, validating the prenatal assessments.
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Quistes , Microftalmía , Embarazo , Lactante , Femenino , Masculino , Humanos , Microftalmía/diagnóstico por imagen , Ultrasonografía Prenatal , Quistes/diagnóstico por imagen , Imagen por Resonancia Magnética/métodos , Edad GestacionalRESUMEN
PURPOSE: This article aimed to explore the correlation between the periorbital morphology determined using a 3D scanning system and CT in congenital microphthalmia. METHODS: Fifty-two children with microphthalmia aged 0-6 were enrolled in this study. All the participants were subjected to orbital CT scans and 3D scanning. The CT and 3D scanning images were separately processed to obtain the orbital and facial parameters. Multivariate regression was used to analyze the correlation between 3D parameters and orbital volume. RESULTS: The orbital volume of the affected side (15.25 ± 3.35 cm3) was generally smaller than the unaffected side (18.58 ± 2.65 cm3, p < .001). Based on CT, at all ages, the parameters of the unaffected orbit were greater than the affected side. In the 3D scanning and 3D reconstruction based on CT, both unaffected and affected sides were highly correlated. A multiple linear regression equation including three 3D scanning factors was obtained for the orbital volume (R2 = 0.808, p < .001). CONCLUSIONS: The retarded orbital volume could be estimated by the parameters based on 3D scanning, along with axial length. In the follow-up stage, 3D scanning can be a novel alternative method to assess the degree of orbital growth retardation in congenital microphthalmia.
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Microftalmía , Humanos , Niño , Microftalmía/diagnóstico por imagen , Tomografía Computarizada por Rayos X , Órbita/diagnóstico por imagen , Imagenología Tridimensional/métodosRESUMEN
OBJECTIVE: Anophthalmia is an extreme form on the spectrum of anophthalmia-microphthalmia (A/M) syndrome. Most articles define fetal microphthalmia by an ocular diameter (OD) less than fifth percentile. Diagnosis of fetal microphthalmia using only orbital measurements such as interocular distance (IOD), and OD may neglect the presence or morphology of the fetal lens, hence failing to identify abnormalities of the fetal globe. CASE REPORT: We hereby present a case of isolated fetal anophthalmia in two consecutive pregnancies from the same mother. Both fetuses presented as full-sized globes with absence or small size of lens under fetal ultrasound examination. Magnetic resonance imaging and pathology of the second fetus further revealed a thorough view of the underdeveloped globes. Whole exon sequencing (WES) analysis for the parents-fetus trio revealed compound heterozygous mutations of the retinoids acid gene 6 (STRA6). CONCLUSION: Detailed examination for intraocular structures including fetal lens, in addition to orbital measurements by ultrasound is crucial for diagnosis of diseases in the A/M spectrum.
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Anoftalmos/genética , Feto , Imagen por Resonancia Magnética , Proteínas de la Membrana/genética , Ultrasonografía Prenatal , Anoftalmos/diagnóstico , Anoftalmos/patología , Femenino , Feto/diagnóstico por imagen , Feto/patología , Humanos , Microftalmía/diagnóstico por imagen , Microftalmía/genética , Mutación , Embarazo , Secuenciación del ExomaRESUMEN
OBJECTIVE: To analyze the stimulating effect of axial length development on orbital volume development in patients (ages 12-60âyears) with congenital microphthalmia. METHODS: This retrospective cohort study included 43 patients (86 eyes) with congenital microphthalmia. Three-dimensional images of the orbit were generated from past computed tomography scans, and digital orbital volume and axial length measurements were taken. The patients were divided into four age groups for analyses. Paired t tests and one-way analysis of variance tests were used to compare orbital volume and axial length between the affected and unaffected eyes. Pearson correlation analyses and scatter plots were used to investigate the correlations between age, orbital volume, and axial length in the affected and unaffected eyes. Linear regression analysis was used to determine the association between orbital volume and axial length. RESULTS: The mean orbital volume in the affected and unaffected eyes was 17.08â±â2.88 and 20.80â±â2.55âcm3, respectively. The mean axis length in the affected and the unaffected groups was 12.73â±â3.54 and 23.84â±â1.43âmm, respectively. Significant differences were observed among orbital (tâ=â13.538, Pâ<â0.001) volume and axial length (tâ=â21.339, Pâ<â0.001) in the affected and the unaffected groups. There were no significant differences in affected orbital volume (Fâ=â0.527, Pâ>â0.05), unaffected orbital volume (Fâ=â1.628, Pâ>â0.05), affected axial length (Fâ=â0.946, Pâ>â0.05), and unaffected axial length (Fâ=â2.217, Pâ>â0.05) among the four age groups. According to the Pearson correlations, there were no significant correlations between age and affected volume, unaffected volume, affected axis, and unaffected axis (râ=â0.095, 0.097, 0.084, and 0.022, respectively; all Pâ>â0.05). Orbital volume was moderately correlated with axial length in the affected and unaffected groups (râ=â0.470 and 0.410, respectively; both Pâ<â0.01). Linear regression analysis revealed that a 1âmm change in axis length was associated with a 0.38âcm3 and 0.73âcm3 change in orbital volume in the affected and unaffected groups, respectively. CONCLUSIONS: In individuals ages 12 to 60âyears old with congenital microphthalmia, the effect of axis length on the orbital volume growth of the affected eye is only half that of the unaffected eye. The eyeball, orbital tissue, and craniofacial development all play an important role in the growth of orbital volume.
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Microftalmía , Adolescente , Adulto , Niño , Ojo , Humanos , Microftalmía/diagnóstico por imagen , Persona de Mediana Edad , Órbita/diagnóstico por imagen , Estudios Retrospectivos , Tomografía Computarizada por Rayos X , Adulto JovenRESUMEN
BACKGROUND/PURPOSE: Posterior microphthalmos is a rare ocular condition characterized by a disproportionately small posterior segment and multiple retinal abnormalities. The diagnosis can be challenging, and novel findings on optical coherence tomography (OCT) angiography may help to identify this unusual disorder. The purpose of this study is to report OCT and OCT angiography findings in two siblings with posterior microphthalmos. METHODS: Case series at an academic eye institute including two affected siblings with posterior microphthalmos. RESULTS: The results of OCT testing in two siblings with posterior microphthalmos illustrated bilateral papillomacular retinal fold and loss of the foveal depression. Optical coherence tomography angiography findings included loss of the foveal avascular zone and complete vascularization across the fovea. CONCLUSION: Unique OCT angiography findings in posterior microphthalmos are described herein. These findings may support the diagnosis of posterior microphthalmos and aid in the understanding of the pathogenesis of this disease.
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Angiografía con Fluoresceína , Microftalmía , Tomografía de Coherencia Óptica , Angiografía con Fluoresceína/métodos , Fóvea Central/diagnóstico por imagen , Fóvea Central/patología , Humanos , Microftalmía/diagnóstico por imagen , Pronóstico , Tomografía de Coherencia Óptica/métodosRESUMEN
Objective: To discuss the ultrasonic manifestations of blind microphthalmia, and to explore the correlation between axis length and complicity of intraocular structure of blind microphthalmia. Methods: Retrospective case series study. The data of ultrasonic imaging and axis length of 162 patients (162 eyes) with blind microphthalmia diagnosed in Tongren Eye Center, Beijing Tongren Hospital from July 2013 to July 2018 were collected. According to the degree of internal structure disorder, all affected eyes were divided into groups of the normal, the abnormal and the indistinguishable. The binocular axial length in these patients were compared. The relationship between the axial length and the age of the patients, and the structural changes of the blind microphthalmia with a basic structure were analyzed. Statistical methods were mainly performed by paired t-test, one-way linear regression analysis and one-way analysis of variance. Results: The disease was unilateral in all the 162 patients. The age ranged from 1 month to 58 years old. And 139 cases (85.80%) were under 12 years old. There were 90 males and 72 females. The mean axial length of the affected eyes (162 eyes) was (13.17±3.77) mm, while the mean axial length of the control eyes (162 eyes) was (21.85±2.01) mm. There was significantly statistical difference in the ocular size between them (t=-27.369; P<0.01). There was no significant correlation between the axial length of the affected eye and age in patients with unilateral blind microphthalmia (r=0.027; P>0.05), while there was a significant correlation between the axial length of the control eye and age (r=0.590; P<0.01). The axial length of the groups of the normal (14 eyes), the abnormal (91 eyes) and the indistinguishable (57 eyes) was (17.80±2.19) mm, (14.81±2.92) mm and (10.05±2.46) mm, respectively, and the difference was statistically significant (F=72.800; P<0.01), and there was also significant difference between the two groups (all P<0.01). Ocular ultrasonic imaging showed that 105 eyes (64.81%) had a basic ocular structure, 83 eyes (51.23%) had retinal detachment, 15 eyes (9.26%) had bulbar ossification, and 10 eyes (6.17%) had optic disc abnormality. Conclusions: Blind microphthalmia mostly has a basic ocular structure and is often associated with retinal detachment. The axial length of the affected eye is correlated with the degree of intraocular structural disorder. (Chin J Ophthalmol, 2021, 57: 825-829).
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Microftalmía , Niño , Ojo , Femenino , Humanos , Lactante , Masculino , Microftalmía/diagnóstico por imagen , Estudios Retrospectivos , Ultrasonido , UltrasonografíaAsunto(s)
Anomalías Múltiples/diagnóstico por imagen , Encéfalo/diagnóstico por imagen , Holoprosencefalia/diagnóstico por imagen , Anodoncia/diagnóstico por imagen , Femenino , Humanos , Incisivo/anomalías , Incisivo/diagnóstico por imagen , Imagen por Resonancia Magnética , Microftalmía/diagnóstico por imagen , Embarazo , Ultrasonografía PrenatalRESUMEN
Congenital microphthalmia is a rare phenotype characterized by eye growth retardation. Due to the lack of eyeball stimulation, children suffering from congenital microphthalmia always have bony orbital maldevelopment, which leads to facial asymmetry. In the present study, a structured light 3D scanning system was used as a novel method to measure the three-dimensional periorbital asymmetry in children with congenital microphthalmia. Children with unilateral congenital microphthalmia of 0-6 years old were enrolled in the present study. All participants underwent an ultrasound scan to measure the axial length, and accepted the structured light 3D scanning system for their periorbital appearance. The degree of periorbital asymmetry was evaluated using 17 facial landmarks within a three-dimensional cartesian coordinate system (the X-axis represented the horizontal direction, the Y-axis represented the vertical direction, and the Z-axis represented the sagittal direction). Paired student t-test and ANOVA were used in the present study. A three-dimensional periorbital topography was also established to further illustrate the periorbital asymmetry. A total of 67 children were recruited, which included 31 boys and 34 girls. The axial length on the affected side (12.28 ± 3.35 mm) was generally smaller than that on the unaffected side (20.54 ± 1.65 mm, P < 0.001). When grouped by age, the periorbital asymmetry mainly manifested in the Y-axis and Z-axis directions. The unaffected side had a higher orbitale superior (5.09 ± 0.35 vs. 3.02 ± 0.30, P < 0.001) and a lower orbitale inferior (-19.52 ± 0.51 vs. -16.90 ± 0.53, P < 0.001) in 0-1 year old group. Same performances were also found in the 1-3 and 3-6 age groups. When grouped according to the proportion of axial length on the bilateral sides, seven of the 12 Y-values and all 12 Z-values had statistical differences. The structured Light 3D scanning system may serve as a beneficial complementary tool for computed tomography, in order to better understand the periorbital deformities caused by congenital microphthalmia.
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Microftalmía , Niño , Preescolar , Asimetría Facial/diagnóstico por imagen , Femenino , Cabeza , Humanos , Imagenología Tridimensional , Lactante , Recién Nacido , Masculino , Microftalmía/diagnóstico por imagen , Tomografía Computarizada por Rayos XRESUMEN
Niño de tres meses diagnosticado de microftalmia y quistes orbitarios bilaterales. En la resonancia magnética se objetivó una microftalmia bilateral con quiste moderado en ojo derecho (OD) y quiste severo en ojo izquierdo. La exploración sugería un posible potencial visual del OD. Se decidió solo observación. A los dos años, la exploración mostraba una disminución significativa de los quistes con una agudeza visual de movimiento de manos gracias a la visión residual del OD. La microftalmia con quistes orbitarios es una anomalía congénita rara. Los quistes tienden a crecer con el tiempo. Actualmente no existe un protocolo estandarizado de manejo de esta enfermedad. A diferencia de nuestro caso, la agudeza visual en estos pacientes es normalmente de no percepción de la luz. La observación puede ser una alternativa terapéutica en casos severos ya que existe la posibilidad de una disminución, desplazamiento o regresión espontánea de los quistes
The case is presented of a 3-month-old infant diagnosed with microphthalmos and orbital cysts. Magnetic Resonance Imaging revealed a bilateral microphthalmia with a moderate right cyst and a severe left cyst. Visual potential of the right eye was uncertain. Non-surgical treatment was decided. At the age of 2 years old, physical examination showed a significant decrease of the cysts and visual acuity of hand movements due to the residual vision of his right eye. Microphthalmos with orbital cyst is a rare congenital anomaly. Cysts tend to enlarge with time. At the moment, no standard protocol for the management of this pathology has been described. Unlike in our patient, visual acuity in these patients is usually of no-light perception. The observation could be an alternative in severe cases, since there is a possibility of spontaneous reduction, displacement, or regression of the cysts
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Humanos , Masculino , Lactante , Quistes/complicaciones , Enfermedades Orbitales/complicaciones , Microftalmía/diagnóstico por imagen , Ojo Artificial , Quistes/patología , Microftalmía/patología , Enfermedades Orbitales/patología , Espectroscopía de Resonancia Magnética , Agudeza Visual , Fondo de Ojo , Diagnóstico DiferencialRESUMEN
We report a case of 19-year-old man with gradual diminution of vision in both eyes since childhood. His best-corrected visual acuity was 20/160, N16 in the right eye and 20/200, N16 in the left eye. Slit-lamp biomicroscopic examination revealed normal cornea, anterior segment, intraocular pressure and lens. Fundus of both eyes showed crowded optic disc with pigmentary changes. Ancillary tests were performed to aid in the diagnosis. A-scan ultrasound revealed short axial lengths with normal corneal diameter, anterior chamber depth and lens thickness. Optical coherence tomography of both eyes showed inner retinal layer folds. Electroretinogram of both eyes showed extinguished photopic as well as scoptopic responses. A diagnosis of posterior microphthalmos with pigmentary retinopathy was made. The patient was counselled regarding nature of the disease and the condition was managed with low vision aids.
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Microftalmía/diagnóstico , Retinitis Pigmentosa/diagnóstico , Electrorretinografía , Fondo de Ojo , Humanos , Masculino , Microftalmía/complicaciones , Microftalmía/diagnóstico por imagen , Retina/diagnóstico por imagen , Retinitis Pigmentosa/complicaciones , Retinitis Pigmentosa/diagnóstico por imagen , Microscopía con Lámpara de Hendidura , Tomografía de Coherencia Óptica , Ultrasonografía , Adulto JovenRESUMEN
BACKGROUND: Syndromic microphthalmia-9 (MCOPS9) is a rare autosomal recessive disorder caused by mutations in STRA6, an important regulator of vitamin A and retinoic acid metabolism. This disorder is characterized by bilateral clinical anophthalmia, pulmonary hypoplasia/aplasia, cardiac malformations, and diaphragmatic defects. The clinical characteristics of this disorder have not been fully determined because of the rarity of clinical reports. METHODS: A comprehensive genotyping examination including copy number variation sequencing (CNV-Seq) and whole-exome sequencing (WES) was applied to a fetus of Han Chinese with bilateral anophthalmia, bilateral pulmonary agenesis, interrupted aortic arch type A, and left ventricular non-compaction (LVNC). RESULTS: No aneuploidy or pathogenic CNV were identified by CNV-seq. WES analysis revealed a previously reported homozygous splice site (NM_022369.4:c.113+3_113+4del) in the STRA6 gene. This variant was confirmed by Sanger sequencing. The diagnosis of MCOPS9 was confirmed given the identification of the STRA6 mutation and the association of bilateral anophthalmia, pulmonary agenesis, and cardiac malformations. CONCLUSION: This case adds to the phenotypic spectrum of MCOPS9, supporting the association with LVNC, and the presence of interruption of aortic arch further demonstrates the variability of the cardiac malformations.
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Anoftalmos/genética , Enfermedades Fetales/genética , No Compactación Aislada del Miocardio Ventricular/genética , Enfermedades Pulmonares/genética , Proteínas de la Membrana/genética , Microftalmía/genética , Fenotipo , Adulto , Anoftalmos/diagnóstico por imagen , Anoftalmos/patología , Femenino , Enfermedades Fetales/diagnóstico por imagen , Enfermedades Fetales/patología , Humanos , No Compactación Aislada del Miocardio Ventricular/diagnóstico por imagen , No Compactación Aislada del Miocardio Ventricular/patología , Enfermedades Pulmonares/diagnóstico por imagen , Enfermedades Pulmonares/patología , Microftalmía/diagnóstico por imagen , Microftalmía/patología , Embarazo , SíndromeRESUMEN
El microftalmos posterior es un cuadro poco frecuente que puede encontrarse en pacientes pediátricos con hipermetropía elevada y visión reducida. Presentamos un estudio retrospectivo de 5casos de microftalmía posterior en niños de edades comprendidas entre 4 y 13 años. Se obtuvieron los siguientes parámetros: agudeza visual, refracción bajo cicloplejía, biometría, examen en lámpara de hendidura, presión intraocular y ecografía ocular. La refracción, la longitud axial y la agudeza visual media fueron de +15,35 Dp; 16,20 mm y 0,13, respectivamente. Se examinó el fondo de ojo, se realizó tomografía de coherencia óptica y, en uno de los casos, retinografía y angiografía fluoresceínica. En todos los casos se evidenció ausencia de depresión foveal y diferentes morfotipos del pliegue papilo-macular por tomografía. Al no existir un tratamiento específico, es importante una adecuada detección, manejo y seguimiento de esta enfermedad para mejorar y mantener la visión de los pacientes y reconocer posibles complicaciones
Posterior microphthalmos is a rare condition that can be found in paediatric patients with increased farsightedness and reduced vision. A retrospective study is presented of 5 cases of posterior microphthalmia aged between 4 and 13 years. The following parameters were obtained: visual acuity, cycloplegic refractive error, optical biometry, slit lamp examination, intraocular pressure, and ocular ultrasound. The refraction, axial length and average visual acuity was + 15.35 Dp, 16.20 mm and 0.13, respectively. The fundus was examined, optical coherence tomography was performed, and also retinography and fluorescein angiography in one case. In all cases, the absence of foveal depression and different morphotypes of the papillo-macular fold were observed in the tomography. In the absence of a specific treatment, the appropriate detection, management, and monitoring of this disease is important to improve and maintain the vision of patients and recognise possible complications
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Humanos , Preescolar , Niño , Adolescente , Microftalmía/diagnóstico por imagen , Retina/diagnóstico por imagen , Enfermedades de la Retina/diagnóstico por imagen , Microftalmía/fisiopatología , Órbita/diagnóstico por imagen , Tomografía de Coherencia Óptica , Estudios Retrospectivos , Angiografía con FluoresceínaRESUMEN
Posterior microphthalmos is a rare condition that can be found in paediatric patients with increased farsightedness and reduced vision. A retrospective study is presented of 5cases of posterior microphthalmia aged between 4 and 13 years. The following parameters were obtained: visual acuity, cycloplegic refractive error, optical biometry, slit lamp examination, intraocular pressure, and ocular ultrasound. The refraction, axial length and average visual acuity was+15.35 Dp, 16.20mm and 0.13, respectively. The fundus was examined, optical coherence tomography was performed, and also retinography and fluorescein angiography in one case. In all cases, the absence of foveal depression and different morphotypes of the papillo-macular fold were observed in the tomography. In the absence of a specific treatment, the appropriate detection, management, and monitoring of this disease is important to improve and maintain the vision of patients and recognise possible complications.
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Microftalmía/diagnóstico por imagen , Tomografía de Coherencia Óptica , Adolescente , Niño , Preescolar , Humanos , Lactante , Microftalmía/diagnóstico , Estudios RetrospectivosRESUMEN
OBJECTIVE: Herpes simplex virus (HSV) infection during pregnancy can cause severe neonatal infections. It is also a rare cause of congenital infections. We aimed to describe fetal and neonatal abnormalities of congenital HSV infection in order to define the features that are accessible to prenatal diagnosis during ultrasound screening and/or during a work-up for congenital malformations. METHODS: We analysed all cases of congenital HSV infection (CHI) described before and/or after birth and identified in Pubed and classified the findings as accessible or not to prenatal diagnosis. RESULTS: Thirty-six cases of congenital herpes infection were reported, of which 15 were described prenatally and 21 postnatally. The most frequently reported malformations accessible to prenatal diagnosis were cerebral anomalies. The most common abnormalities described after birth were skin lesions and keratitis, which are not considered amenable to prenatal ultrasound detection. CHI can due to either HSV1 or HSV2 infection, whether primary or non-primary infection, with or without the presence of maternal symptoms. CONCLUSION: Prenatal ultrasound abnormalities due to CHI are rare, varied and non-specific. There is no clear role for fetal ultrasound in the routine management of women with primary or non-primary HSV infection in pregnancy. However, in fetuses with ultrasound abnormalities suggestive of congenital infection, HSV should still be considered as a differential diagnosis after the more common in utero infections, such as cytomegalovirus, are excluded.
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Encéfalo/anomalías , Herpes Simple/diagnóstico por imagen , Queratitis Herpética/diagnóstico , Malformaciones del Sistema Nervioso/diagnóstico por imagen , Complicaciones Infecciosas del Embarazo , Encéfalo/diagnóstico por imagen , Femenino , Herpes Simple/complicaciones , Herpes Simple/congénito , Herpes Simple/diagnóstico , Herpesvirus Humano 1 , Herpesvirus Humano 2 , Humanos , Recién Nacido , Queratitis Herpética/etiología , Microftalmía/diagnóstico por imagen , Microftalmía/etiología , Malformaciones del Sistema Nervioso/etiología , Embarazo , Ultrasonografía PrenatalRESUMEN
PURPOSE: To describe swept source-OCT (SS-OCT) and swept source-OCT angiography (SS-OCTA) findings in eyes with posterior microphthalmos (PM). METHODS: Twelve eyes (six patients) with PM were evaluated using SS-OCT and SS-OCTA. Structural changes, subfoveal choroidal thickness (SFCT), and perifoveal capillary changes with qualitative and quantitative assessments were analyzed. Twenty eyes served as control group. RESULTS: SS-OCT findings included elevated retinal papillo-macular fold (75%), retinal pigment epithelium folds (83%), macular cystoid spaces (42%), subretinal fluid (17%), and increased visibility of posterior vitreous cortex and hyaloid (42%). Mean SFCT in PM and in control eyes were 430.33 ± 157.48 µm and 290.05 ± 52.87 µm, respectively (p = 0.004). Perifoveal capillary changes on SS-OCTA included foveal avascular zone (FAZ) remodeling (100%), vessel tortuosity (67%), disorganization of the deep capillary network (67%), intraretinal cystoid spaces (42%), and areas of signal voids in the choriocapillaris (33%). FAZ area was significantly smaller in eyes with PM than in the control group in both the superficial (p < 0.001) and deep capillary plexuses (p = 0.001). Capillary vessel density (CVD) was significantly lower in the PM than in the control group in the deep capillary plexus (p = 0.004). Log MAR BCVA correlated negatively with axial length (r = - 0.929, p < 0.001), FAZ area in both the superficial (r = - 0.637, p < 0.001) and deep capillary plexus (r = - 0.561, p = 0002), and CVD in the deep capillary plexus (r = - 0.450, p = 0.016). CONCLUSIONS: Combined SS-OCT and SS-OCTA allow the detection of various retinal and choroidal structural and microvascular changes in eyes with PM. These findings can provide new insights onto this blinding ocular condition.
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Microftalmía/patología , Adulto , Femenino , Angiografía con Fluoresceína/métodos , Fóvea Central/patología , Humanos , Mácula Lútea/irrigación sanguínea , Masculino , Microftalmía/diagnóstico por imagen , Persona de Mediana Edad , Segmento Posterior del Ojo/patología , Epitelio Pigmentado de la Retina/patología , Vasos Retinianos/patología , Tomografía de Coherencia Óptica/métodos , Agudeza VisualRESUMEN
Purpose: To identify the effects of a single copy deletion of Yap1 (Yap1 +/-) in the mouse eye, the ocular phenotypic consequences of Yap1 +/- were determined in detail. Methods: Complete ophthalmic examinations, as well as corneal esthesiometry, the phenol red thread test, intraocular pressure, and Fourier-domain optical coherence tomography were performed on Yap1 +/- and age-matched wild-type (WT) mice between eyelid opening (2 weeks after birth) and adulthood (2 months and 1 year after birth). Following euthanasia, enucleated eyes were characterized histologically. Results: Microphthalmia with small palpebral fissures, corneal fibrosis, and reduced corneal sensation were common findings in the Yap1 +/- mice. Generalized corneal fibrosis precluded clinical examination of the posterior structures. Histologically, thinning and keratinization of the corneal epithelium were observed in the Yap1 +/- mice in comparison with the WT mice. Distorted collagen fiber arrangement and hypercellularity of keratocytes were observed in the stroma. Descemet's membrane was extremely thin and lacked an endothelial layer in the Yap1 +/- mice. The iris was adherent to the posterior cornea along most of its surface creating a distorted contour. Most of the Yap1 +/- eyes were microphakic with swollen fibers and bladder cells. The retinas of the Yap1 +/- mice were normal at 2 weeks and 2 months of age, but the presence of retinal abnormalities, including retinoschisis and detachment, was markedly increased in the Yap1 +/- mice at 1 year of age. Conclusions: The results show that the heterozygous deletion of the Yap1 gene in mice leads to complex ocular abnormalities, including microphthalmia, corneal fibrosis, anterior segment dysgenesis, and cataract.
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Proteínas Adaptadoras Transductoras de Señales/genética , Catarata/genética , Anomalías del Ojo/genética , Microftalmía/genética , Fenotipo , Fosfoproteínas/genética , Proteínas Adaptadoras Transductoras de Señales/deficiencia , Animales , Catarata/diagnóstico por imagen , Catarata/metabolismo , Catarata/patología , Proteínas de Ciclo Celular , Sustancia Propia/diagnóstico por imagen , Sustancia Propia/metabolismo , Sustancia Propia/patología , Lámina Limitante Posterior/diagnóstico por imagen , Lámina Limitante Posterior/metabolismo , Lámina Limitante Posterior/patología , Epitelio Corneal/diagnóstico por imagen , Epitelio Corneal/metabolismo , Epitelio Corneal/patología , Anomalías del Ojo/diagnóstico por imagen , Anomalías del Ojo/metabolismo , Anomalías del Ojo/patología , Femenino , Fibrosis , Expresión Génica , Heterocigoto , Presión Intraocular/fisiología , Iris/diagnóstico por imagen , Iris/metabolismo , Iris/patología , Masculino , Ratones , Ratones Noqueados , Microftalmía/diagnóstico por imagen , Microftalmía/metabolismo , Microftalmía/patología , Fosfoproteínas/deficiencia , Retina/diagnóstico por imagen , Retina/metabolismo , Retina/patología , Tomografía de Coherencia Óptica , Tonometría Ocular , Proteínas Señalizadoras YAPRESUMEN
Amniotic band syndrome can lead to a wide spectrum of congenital abnormalities including orofacial and visceral defects. It is associated with malformations in truncal, craniofacial regions and the limbs, whereas it sometimes may imitate some genetic disorders. Here, we present an atypical case mimicking amniotic band syndrome with a facio-upper arm band that was having multiple fetal structural abnormalities including scoliosis, bilateral cleft lip and palate, upper limb abnormality, unilateral anophthalmia with contralateral microphthalmia, left hypertrophic kidney and severe ventriculomegaly.
Asunto(s)
Anomalías Múltiples/diagnóstico por imagen , Síndrome de Bandas Amnióticas/diagnóstico por imagen , Hidrocefalia/diagnóstico por imagen , Microftalmía/diagnóstico por imagen , Adulto , Cordocentesis , Femenino , Humanos , Recién Nacido , Embarazo , Ultrasonografía PrenatalRESUMEN
PURPOSE: To compare the area of the superficial foveal avascular zone (SFAZ) and deep foveal avascular zone (DFAZ) between patients with nanophthalmos and age matched controls. METHODS: This prospective and comparative study included 19 eyes from 11 patients with nanophthalmos (study group) and 19 eyes from 19 healthy subjects (control group). SFAZ and DFAZ were measured with optical coherence tomography angiography (OCT-A). All participants underwent a standardised ocular examination including best corrected visual acuity (BCVA), central macular thickness (CMT), subfoveal choroidal thickness (SFCT) anterior chamber depth (ACD), axial length (AL), and refractive error (RE) measurements. RESULTS: Mean SFAZ and DFAZ area in the nanophthalmic eyes and in the control eyes were 0.09 ± 0.12 mm2, 0.10 ± 0.10 mm2 and 0.37 ± 0.10 mm2, 0.37 ± 0.10 mm2 respectively (p < 0.001 and p < 0.001). Mean BCVA, RE, AL, ACD CMT, SFCT, were 0.40 ± 0.34 logMAR Unit, 10.0 ± 2.2 18.1 ± 1.5 mm, 2.15 ± 0.28 mm, 367.1 ± 87.4 µm, 489.2 ± 85.2 µm respectively, in nanophthalmic eyes and there was a statistically significant difference between groups (p < 0.001 for each). There were negative correlations for both SFAZ and DFAZ with RE (r = -0.733 and r = -0.758, p < 0.001), CMT (r = -0.823 and r = -0.82, p < 0.001), SFCT (r = -0.647 and r = -0.717 p < 0.001) for the entire study population. SFAZ and DFAZ area were significantly correlated with AL (r = 0.732 and r = 0.745, p < 0.001) and ACD (r = 0.614 and r = 0.654, p < 0.001). In study group, 5 eyes did not have neither SFAZ nor DFAZ, 3 eyes had only DFAZ and 1 eye had only SFAZ in the OCT-A images. CONCLUSIONS: SFAZ and DFAZ area were significantly smaller in nanophthalmic eyes than control eyes.
Asunto(s)
Angiografía por Tomografía Computarizada , Fóvea Central/patología , Microftalmía/patología , Tomografía de Coherencia Óptica , Adolescente , Niño , Femenino , Fóvea Central/irrigación sanguínea , Fóvea Central/diagnóstico por imagen , Humanos , Masculino , Microftalmía/diagnóstico por imagen , Microftalmía/epidemiología , Estudios Prospectivos , Turquía/epidemiología , Agudeza Visual , Adulto JovenRESUMEN
Purpose: The purpose of the study is to evaluate demographic data and outcomes of the management of congenital anophthalmia/microphthalmia. Methods: This retrospective, descriptive, cross-sectional study evaluated patients with congenital anophthalmia/microphthalmia managed from 2004 to 2014 at a tertiary hospital in Saudi Arabia. Data were collected on patient age, gender, cause, orbital status, laterality, systemic comorbidities, ocular evaluation, and management (type of surgery, type of orbital implant, and complications). The main outcome measure was the ability to hold the prosthesis. Results: The study sample was composed of 513 eyes/sockets of 365 patients. Two-hundred and seventeen (59.4%) patients were unilateral cases. Forty-one (8%) sockets were due to congenital anophthalmia and 471 (92%) were due to microphthalmia. There were 73.2% isolated cases and 28.5% with systemic involvement. Systemic involvement was more common in bilateral cases. The most commonly associated conditions were central nervous disorders. One-hundred and nineteen (46.7%) cases had parental consanguinity. Two hundred and eighteen eyes/sockets (163 patients) underwent surgery including conjunctival flap (38; 17.4%), evisceration (38; 17.4%), enucleation (16; 7.3%), or procedures to improve the anophthalmic socket volume (45; 20.6%). Volume enhancing procedures included polymethylmethacrylate orbital implants (26; 57.8%), expanders (11; 24.4%), integrated hydroxyapatite or polyethylene implants (2; 4.4%), and dermis-fat graft (6; 13.3%). In most cases, clinical or surgical management resulted in a successful outcome. Conclusion: Anophthalmia/Microphthalmia was detected in 36.5 patients/year. The majority had isolated microphthalmia. Good outcomes were achieved with clinical or surgical management in the majority of cases.