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1.
Proc Natl Acad Sci U S A ; 116(9): 3662-3667, 2019 02 26.
Artigo em Inglês | MEDLINE | ID: mdl-30808755

RESUMO

Kaufman oculocerebrofacial syndrome (KOS) is a recessive neurodevelopmental disorder characterized by intellectual disability and lack of speech. KOS is caused by inactivating mutations in UBE3B, but the underlying biological mechanisms are completely unknown. We found that loss of Ube3b in mice resulted in growth retardation, decreased grip strength, and loss of vocalization. The brains of Ube3b -/- mice had hypoplasia of the corpus callosum, enlarged ventricles, and decreased thickness of the somatosensory cortex. Ube3b -/- cortical neurons had abnormal dendritic morphology and synapses. We identified 22 UBE3B interactors and found that branched-chain α-ketoacid dehydrogenase kinase (BCKDK) is an in vivo UBE3B substrate. Since BCKDK targets several metabolic pathways, we profiled plasma and cortical metabolomes from Ube3b -/- mice. Nucleotide metabolism and the tricarboxylic acid cycle were among the pathways perturbed. Substrate-induced mitochondrial respiration was reduced in skeletal muscle but not in liver of Ube3b -/- mice. To assess the relevance of these findings to humans, we identified three KOS patients who had compound heterozygous UBE3B mutations. We discovered changes in metabolites from similar pathways in plasma from these patients. Collectively, our results implicate a disease mechanism in KOS, suggest that it is a metabolic encephalomyopathy, and provide an entry to targeted therapies.


Assuntos
Anormalidades do Olho/genética , Deficiência Intelectual/genética , Transtornos do Desenvolvimento da Linguagem/genética , Deformidades Congênitas dos Membros/genética , Microcefalia/genética , Proteínas Quinases/genética , Ubiquitina-Proteína Ligases/genética , Adolescente , Adulto , Animais , Encéfalo/fisiopatologia , Criança , Anormalidades do Olho/fisiopatologia , Facies , Humanos , Deficiência Intelectual/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Deformidades Congênitas dos Membros/fisiopatologia , Masculino , Redes e Vias Metabólicas , Camundongos , Camundongos Knockout , Microcefalia/fisiopatologia , Mutação , Fenótipo , Ubiquitina/genética
2.
Graefes Arch Clin Exp Ophthalmol ; 256(9): 1679-1683, 2018 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29705837

RESUMO

PURPOSE: Optical iridectomy creates a defect in the iris to allow an alternative clear visual axis in cases of central corneal opacities occluding the pupillary axis. The purpose of this study is to evaluate the outcomes of optical sector iridectomy in children with Peters anomaly. METHODS: Retrospective case series. The medical records of all patients diagnosed with Peters anomaly who underwent optical iridectomy during the years 2002-2014 were reviewed. Data collection included surgical and visual acuity outcomes. RESULTS: Twenty-nine eyes (22 patients) were included in the study. Mean age at the time of surgery was 15.6 ± 26.3 months. Eighteen (81.8%) patients had bilateral disease. No intraoperative complications occurred. A red reflex was obtained in 28 (96.6%) eyes after surgery. Mean visual acuity improved from 2.5 ± 0.3 to 1.8 ± 0.6 in logMAR (p < 0.001). Vision improved in 21 (72.4%) eyes, remained stable in 5 (17.2%) eyes, and deteriorated in 3 (10.3%) eyes. Postoperatively visual acuity improved significantly in the patients with the bilateral disease (p < 0.05), but not in the unilateral group (p = 0.056). Mean follow-up time was 41.6 ± 43.8 months. During the follow-up period, five (17.2%) eyes were diagnosed with glaucoma, two (6.9%) eyes underwent PK, one (3.4%) eye underwent an additional sector iridectomy, and one (3.4%) eye underwent keratoprosthesis. CONCLUSIONS: In this largest series published of optical iridectomy for Peters anomaly, it was found to be a safe procedure. Improvement in visual acuity is expected, particularly in bilateral cases. The utility of optical iridectomy in unilateral cases necessitates further studies.


Assuntos
Segmento Anterior do Olho/anormalidades , Opacidade da Córnea/cirurgia , Anormalidades do Olho/cirurgia , Iridectomia/métodos , Iris/cirurgia , Acuidade Visual , Segmento Anterior do Olho/fisiopatologia , Segmento Anterior do Olho/cirurgia , Pré-Escolar , Opacidade da Córnea/fisiopatologia , Anormalidades do Olho/fisiopatologia , Feminino , Seguimentos , Humanos , Lactente , Recém-Nascido , Masculino , Estudos Retrospectivos , Resultado do Tratamento
3.
Cornea ; 37(3): 382-385, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29408830

RESUMO

PURPOSE: Peters anomaly is the most common cause of congenital corneal opacities. Although conservative management is often ineffective except in mild cases, surgical intervention in the form of penetrating keratoplasty is fraught with unpredictability and often has unacceptable postoperative outcomes. As such, there is a need to explore alternative surgical interventions that may possibly improve the postoperative visual prognosis in these patients. In this report, we present a case of type 1 Peters anomaly treated by selective endothelial removal without corneal tissue transplantation. METHODS: A case report with literature review. RESULTS: A 21-month-old child, who presented with unilateral type 1 Peters anomaly, underwent selective endothelial removal without corneal tissue transplantation for the treatment of her condition. The patient demonstrated excellent anatomical and visual recovery after the procedure over a 1-year period. Her visual acuity had improved from 20/960 preoperatively to 20/30 during the latest review. Postoperative recovery was not complicated by the development of any sight-threatening complications, and she has been successfully weaned off all topical and systemic medications. CONCLUSIONS: Selective endothelial removal can potentially be used to treat cases of type 1 Peters anomaly.


Assuntos
Segmento Anterior do Olho/anormalidades , Opacidade da Córnea/cirurgia , Epitélio Posterior/cirurgia , Anormalidades do Olho/cirurgia , Procedimentos Cirúrgicos Oftalmológicos , Segmento Anterior do Olho/fisiopatologia , Segmento Anterior do Olho/cirurgia , Opacidade da Córnea/diagnóstico , Opacidade da Córnea/fisiopatologia , Epitélio Posterior/patologia , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/fisiopatologia , Feminino , Humanos , Lactente , Retinoscopia , Acuidade Visual/fisiologia
4.
Eye Contact Lens ; 44(1): e4-e6, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26925534

RESUMO

OBJECTIVE: To report a case of unilateral spontaneous descemet membrane rupture associated with megalophthalmos. METHODS: A case report of a 23-year-old woman with blurred vision of the right eye for 6 months due to spontaneous descemet membrane rupture associated with megalophthalmos is described. Slit-lamp examination demonstrated corneal edema and suggestion of a descemet membrane rupture in the right eye. RESULTS: Anterior segment optical coherence tomography verified the presence of a ruptured descemet membrane separated from the nasal posterior cornea along with corneal edema and intraepithelial cystic lesions. With A-scan ultrasonography, axial lengths were 32 and 28 mm in OD and OS, respectively. Indirect gonioscopy demonstrated a wide iridocorneal angle and a ciliary body band, bilaterally. Corneal pachymetry measurements were performed with Pentacam HR Scheimpflug topography which measured the central corneal thickness 360 µ in OD and 300 µ in OS. CONCLUSIONS: Megalophthalmos and spontaneous descemet membrane rupture are rare conditions. To the best literature knowledge, this is the first report of descemet membrane rupture in megalophthalmos.


Assuntos
Doenças da Córnea/etiologia , Lâmina Limitante Posterior/diagnóstico por imagem , Anormalidades do Olho/complicações , Acuidade Visual , Doenças da Córnea/diagnóstico , Doenças da Córnea/fisiopatologia , Paquimetria Corneana , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/fisiopatologia , Feminino , Humanos , Ruptura Espontânea , Tomografia de Coerência Óptica , Ultrassonografia , Adulto Jovem
5.
Eur J Ophthalmol ; 28(2): 253-255, 2018 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-29148029

RESUMO

PURPOSE: Pigmentary maculopathy can occur in the context of various inherited and acquired diseases. Anterior segment dysgenesis arises due to developmental anomalies and may be associated with systemic disease, as in Rieger syndrome. CASE REPORT: A 49-year-old woman presented with longstanding reduction in vision, evidence of anterior segment dysgenesis, and multiple discrete pigmented lesions throughout the macula bilaterally. Electroretinographic findings were consistent with severe macular dysfunction. Gene array analysis did not reveal any chromosomal imbalances or other specific abnormalities. CONCLUSIONS: This is a unique case of bilateral pigmentary maculopathy and anterior segment dysgenesis, with clinical findings that are not characteristic of previously reported disease.


Assuntos
Segmento Anterior do Olho/anormalidades , Anormalidades do Olho/complicações , Retinite Pigmentosa/complicações , Eletrorretinografia , Potenciais Evocados Visuais/fisiologia , Anormalidades do Olho/diagnóstico por imagem , Anormalidades do Olho/fisiopatologia , Feminino , Humanos , Pessoa de Meia-Idade , Retina/fisiopatologia , Retinite Pigmentosa/diagnóstico por imagem , Retinite Pigmentosa/fisiopatologia , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia
6.
Brain Dev ; 40(4): 259-267, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29217415

RESUMO

OBJECTIVE: Arima syndrome (AS) is a rare disease and its clinical features mimic those of Joubert syndrome or Joubert syndrome-related diseases (JSRD). Recently, we clarified the AS diagnostic criteria and its severe phenotype. However, genetic evidence of AS remains unknown. We explored causative genes of AS and compared the clinical and genetic features of AS with the other JSRD. PATIENTS AND METHODS: We performed genetic analyses of 4 AS patients of 3 families with combination of whole-exome sequencing and Sanger sequencing. Furthermore, we studied cell biology with the cultured fibroblasts of 3 AS patients. RESULTS: All patients had a specific homozygous variant (c.6012-12T>A, p.Arg2004Serfs*7) or compound heterozygous variants (c.1711+1G>A; c.6012-12T>A, p.Gly570Aspfs*19;Arg2004Serfs*7) in centrosomal protein 290 kDa (CEP290) gene. These unique variants lead to abnormal splicing and premature termination. Morphological analysis of cultured fibroblasts from AS patients revealed a marked decrease of the CEP290-positive cell number with significantly longer cilium and naked and protruded ciliary axoneme without ciliary membrane into the cytoplasm. CONCLUSION: AS resulted in cilia dysfunction from centrosome disruption. The unique variant of CEP290 could be strongly linked to AS pathology. Here, we provided AS specific genetic evidence, which steers the structure and functions of centrosome that is responsible for normal ciliogenesis. This is the first report that has demonstrated the molecular basis of Arima syndrome.


Assuntos
Antígenos de Neoplasias/genética , Doenças Cerebelares/genética , Doenças Cerebelares/patologia , Coloboma/genética , Coloboma/patologia , Fibroblastos/patologia , Proteínas de Neoplasias/genética , Doenças Renais Policísticas/genética , Doenças Renais Policísticas/patologia , Anormalidades Múltiplas/patologia , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Antígenos de Neoplasias/metabolismo , Células Cultivadas , Centrossomo/metabolismo , Centrossomo/patologia , Doenças Cerebelares/fisiopatologia , Cerebelo/anormalidades , Cerebelo/patologia , Cerebelo/fisiopatologia , Cílios/metabolismo , Cílios/patologia , Coloboma/fisiopatologia , Anormalidades do Olho/patologia , Anormalidades do Olho/fisiopatologia , Família , Feminino , Fibroblastos/metabolismo , Humanos , Imuno-Histoquímica , Doenças Renais Císticas/patologia , Doenças Renais Císticas/fisiopatologia , Microscopia Eletrônica de Transmissão , Peso Molecular , Mutação , Proteínas de Neoplasias/metabolismo , Doenças Renais Policísticas/fisiopatologia , Retina/anormalidades , Retina/patologia , Retina/fisiopatologia , Sequenciamento Completo do Exoma , Adulto Jovem
7.
Bone ; 106: 187-193, 2018 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-29051055

RESUMO

INTRODUCTION: Pierson syndrome is caused by a mutation of LAMB2, encoding for laminin ß2. Clinical phenotype is variable but usually associates congenital nephrotic syndrome (CNS) and ocular abnormalities. Neuromuscular impairment has also been described. METHODS: We report on a 15-year old girl, suffering from Pierson Syndrome, who developed severe bone deformations during puberty. This patient initially displayed CNS and microcoria, leading to the clinical diagnosis of Pierson syndrome. Genetic analysis revealed a truncating mutation and a splice site mutation of LAMB2. The patient received a renal transplantation (R-Tx) at the age of 3. After R-Tx, renal evolution was simple, the patient receiving low-dose corticosteroids, tacrolimus and mycophenolate mofetil. At the age of 12, bone deformations progressively appeared. At the time of bone impairment, renal function was subnormal (glomerular filtration rate using iohexol clearance 50mL/min per 1.73m2), and parameters of calcium/phosphate metabolism were normal (calcium 2.45mmol/L, phosphorus 1.30mmol/L, PTH 81ng/L, ALP 334U/L, 25OH-D 73nmol/L). Radiographs showed major deformations such as scoliosis, genu varum and diffuse epiphyseal abnormalities. A high resolution scanner (HR-pQCT) was performed, demonstrating a bone of "normal low" quantity and quality; major radial and cubital deformations were observed. Stainings of laminin ß2 were performed on bone and renal samples from the patient and healthy controls: as expected, laminin ß2 was expressed in the control kidney but not in the patient's renal tissue, and a similar pattern was observed in bone. CONCLUSION: This is the first case of skeletal impairment ever described in Pierson syndrome. Integrin α3ß1, receptor for laminin ß2, are found in podocytes and osteoblasts, and the observation of both the presence of laminin ß2 staining in healthy bone and its absence in the patient's bone raises the question of a potential role of laminin ß2 in bone physiology.


Assuntos
Anormalidades Múltiplas/metabolismo , Anormalidades Múltiplas/fisiopatologia , Anormalidades do Olho/metabolismo , Anormalidades do Olho/fisiopatologia , Laminina/metabolismo , Síndrome Nefrótica/metabolismo , Síndrome Nefrótica/fisiopatologia , Distúrbios Pupilares/metabolismo , Distúrbios Pupilares/fisiopatologia , Anormalidades Múltiplas/genética , Adolescente , Anormalidades do Olho/genética , Feminino , Humanos , Laminina/genética , Mutação , Síndrome Nefrótica/genética , Doenças Neuromusculares/genética , Doenças Neuromusculares/metabolismo , Doenças Neuromusculares/fisiopatologia , Distúrbios Pupilares/genética
8.
Strabismus ; 25(4): 191-194, 2017 12.
Artigo em Inglês | MEDLINE | ID: mdl-29135308

RESUMO

Anomalous orbital structures are suspected in restrictive strabismus with features of severe globe retractions, overshoots, or synergistic movements. We report a case of suspected Duane syndrome that was found to have an anomalous band beneath the lateral rectus muscle. Such abnormal structures are rare, but it is important to identify and manage them to optimize outcomes.


Assuntos
Síndrome da Retração Ocular/diagnóstico , Anormalidades do Olho/diagnóstico , Músculos Oculomotores/anormalidades , Criança , Síndrome da Retração Ocular/fisiopatologia , Exotropia/diagnóstico , Exotropia/fisiopatologia , Anormalidades do Olho/fisiopatologia , Movimentos Oculares/fisiologia , Feminino , Humanos
10.
Am J Med Genet A ; 173(11): 3114-3117, 2017 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-28940926

RESUMO

CHAND syndrome is an autosomal recessive disorder characterized by curly hair, ankyloblepharon, and nail dysplasia. Only few patients were reported to date. A homozygous RIPK4 mutation was recently identified by homozygosity mapping and whole exome sequencing in three patients from an expanded consanguineous kindred with a clinical diagnosis of CHAND syndrome. RIPK4 was previously known to be implicated in Bartsocas-Papas syndrome, the autosomal recessive form of popliteal pterygium syndrome. We report here two cases of RIPK4 homozygous mutations in a fetus with severe Bartsocas-Papas syndrome and a patient with CHAND syndrome. The patient with CHAND syndrome harbored the same mutation as the one identified in the family previously reported. We thus confirm the implication of RIPK4 gene in CHAND syndrome in addition to Bartsocas-Papas syndrome and discuss genotype/phenotype correlations.


Assuntos
Fenda Labial/genética , Fissura Palatina/genética , Anormalidades do Olho/genética , Doenças Palpebrais/genética , Doenças do Cabelo/genética , Joelho/anormalidades , Transtornos do Desenvolvimento da Linguagem/genética , Unhas Malformadas/genética , Proteínas Serina-Treonina Quinases/genética , Sindactilia/genética , Pré-Escolar , Fenda Labial/diagnóstico , Fenda Labial/fisiopatologia , Fissura Palatina/diagnóstico , Fissura Palatina/fisiopatologia , Consanguinidade , Exoma/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/fisiopatologia , Doenças Palpebrais/diagnóstico , Doenças Palpebrais/fisiopatologia , Feminino , Feto , Doenças do Cabelo/diagnóstico , Doenças do Cabelo/fisiopatologia , Homozigoto , Humanos , Recém-Nascido , Joelho/fisiopatologia , Transtornos do Desenvolvimento da Linguagem/diagnóstico , Transtornos do Desenvolvimento da Linguagem/fisiopatologia , Masculino , Mutação , Unhas Malformadas/diagnóstico , Unhas Malformadas/fisiopatologia , Sindactilia/diagnóstico , Sindactilia/fisiopatologia
11.
Doc Ophthalmol ; 135(2): 97-106, 2017 10.
Artigo em Inglês | MEDLINE | ID: mdl-28795295

RESUMO

PURPOSE: As part of a long-term, prospective study of prenatal and clinical risk factors for optic nerve hypoplasia (ONH) at Children's Hospital Los Angeles, pattern ERGs (PERGs) were evaluated for prognostic value using an automated objective and robust analytical method. METHODS: Participants were 33 children with ophthalmoscopically diagnosed ONH [disc diameter-to-disc macula ratio (DD/DM) less than 0.35 in one or both eyes on fundus photographs]. Using cycloplegia and chloral hydrate sedation in one session before 26 months of age, we recorded PERGs to checkerboard reversal using five check sizes. Participants were followed with clinical and psychometric testing until 5 years of age. PERGs were analysed using automated robust statistics based on magnitude-squared coherence and bootstrapping optimized to objectively quantify PERG recovery in the challenging recordings encountered in young patients. PERG measures in the fixating or better-seeing eyes were compared with visual outcome data. RESULTS: PERG recording was complete to at least three check sizes in all eyes and to all five sizes in 79%. Probability of recording a PERG that is significantly different from noise varied with check size from 73% for the largest checks to 30% for the smallest checks (p = 0.002); smaller waveforms were associated with earlier implicit times. The presence of significant PERGs in infancy is associated with better visual outcomes; the strongest association with visual outcome was for the threshold check size with a significant N95 component (ρ = 0.398, p = 0.02). CONCLUSIONS: Automated statistically robust signal-processing techniques reliably and objectively detect PERGs in young children with ONH and show that congenital deficits of retinal ganglion cells are associated with diminished or non-detectable PERGs. The later negativity, N95, was the best indicator of visual prognosis and was most useful to identify those with good visual outcomes (≤0.4 LogMAR). Although PERGs reflect function of the inner layers of the central retina, they lack the specificity required to determine prognosis reliably in individual cases.


Assuntos
Anormalidades do Olho/fisiopatologia , Nervo Óptico/anormalidades , Retina/fisiologia , Células Ganglionares da Retina/fisiologia , Criança , Pré-Escolar , Eletrorretinografia/métodos , Feminino , Humanos , Lactente , Masculino , Oftalmoscopia , Nervo Óptico/fisiopatologia , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade , Processamento de Sinais Assistido por Computador , Acuidade Visual/fisiologia
12.
Medicine (Baltimore) ; 96(33): e7791, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28816964

RESUMO

RATIONALE: Axenfeld-Rieger syndrome (ARS) is a rare autosomal dominant disorder with ocular anterior segment dysgenesis and systemic anomalies. PATIENT CONCERNS: A 28-year-old Chinese Han female was referred to Beijing Tongren Eye Center for progressive decrease of the visual acuity on her right eye in the past month. DIAGNOSES: The patient was diagnosed as ARS with retinal detachment based on series of ophthalmic examinations performed. INTERVENTIONS: A pars plana vitrectomy was performed to manage the retinal detachment. OUTCOMES: Her best-corrected visual acuity was slightly improved after surgery. LESSONS: ARS is a developmental defect of ocular anterior segment with various clinical manifestations which might cause misdiagnosis.


Assuntos
Segmento Anterior do Olho/anormalidades , Anormalidades do Olho/fisiopatologia , Adulto , Segmento Anterior do Olho/fisiopatologia , Anormalidades Craniofaciais/fisiopatologia , Oftalmopatias/fisiopatologia , Oftalmopatias Hereditárias , Feminino , Humanos , Odontopatias/fisiopatologia
13.
Eye (Lond) ; 31(9): 1266-1273, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28731058

RESUMO

PurposeTo evaluate surgical intervention with pars plana vitrectomy (PPV) for correction of optic disc pit maculopathy (ODP-M).Patients and methodsRetrospective chart review from 13 centres of 51 eyes of 50 patients with ODP-M who underwent PPV between 2002-2014. Anatomic and final best-corrected visual acuity (BCVA) outcomes were evaluated for all cases with different adjuvant techniques.ResultsThere were 23 males and 27 females with median age 25.5 (6-68) years. Preoperative median foveal thickness was 694.5 (331-1384) µm and improved to 252.5 (153-1405) µm. Median BCVA improved from 20/200 (20/20000 to 20/40) to 20/40 (20/2000 to 20/20) with 20/40 or better in 31 eyes. Complete retinal reattachment was achieved in 44 eyes (86.3%) at 7.1 (5.9) months. The good surgical outcomes were achieved in different adjuvant groups. Median follow-up was 24 (6 to 120) months.ConclusionsThese results confirm the long-term effectiveness of PPV for ODP-M. Prospective studies are needed to determine the effectiveness of any adjuvant technique in improving the success of PPV for ODP-M.


Assuntos
Anormalidades do Olho/cirurgia , Disco Óptico/anormalidades , Doenças Retinianas/cirurgia , Vitrectomia/métodos , Adolescente , Adulto , Idoso , Criança , Tamponamento Interno , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/fisiopatologia , Feminino , Fluorcarbonetos/administração & dosagem , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Doenças Retinianas/diagnóstico , Doenças Retinianas/fisiopatologia , Estudos Retrospectivos , Hexafluoreto de Enxofre/administração & dosagem , Tomografia de Coerência Óptica , Acuidade Visual/fisiologia
14.
Eye (Lond) ; 31(12): 1685-1688, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28731059

RESUMO

PurposeTo determine the clinical usefulness of optical coherence tomography (OCT) for detecting thinning of the retinal nerve fiber layer (RNFL) in eyes with nasal hypoplasia of the optic discs (NHOD).Patients and methodsThe medical records of five patients (eight eyes) with NHOD were reviewed. The ratio of the disc-macula distance to the disc diameter (DM/DD) and the disc ovality ratio of the minimal to maximal DD were assessed using fundus photographs. The RNFL thicknesses of the temporal, superior, nasal, and inferior quadrants were evaluated using OCT quadrant maps.ResultsAll eight eyes had temporal visual field defects that respected the vertical meridians that needed to be differentiated from those related to chiasmal compression. The mean DM/DD ratio was 3.1 and the mean disc ovality ratio was 0.81. The mean RNFL thicknesses of the temporal, superior, nasal, and inferior quadrants were 90.3, 103.1, 34.8, and 112.8 microns, respectively.ConclusionSmall optic discs and tilted discs might be associated with NHOD. Measurement of the RNFL thickness around the optic disc using OCT scans clearly visualized the characteristic RNFL thinning of the nasal quadrants corresponding to the temporal sector visual field defects in eyes with NHOD. OCT confirmed the presence of NHOD and might differentiate eyes with NHOD from those with chiasmal compression.


Assuntos
Anormalidades do Olho/diagnóstico , Fibras Nervosas/patologia , Disco Óptico/anormalidades , Doenças do Nervo Óptico/diagnóstico , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica/métodos , Campos Visuais , Adulto , Anormalidades do Olho/fisiopatologia , Feminino , Humanos , Macula Lutea/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Doenças do Nervo Óptico/congênito , Doenças do Nervo Óptico/fisiopatologia
15.
J Glaucoma ; 26(9): e217-e221, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28671921

RESUMO

We report a case of papilloschisis, where the schisis is noted within the optic nerve tissue with no associated disc pit. This has not been reported in the literature to the best of our knowledge.


Assuntos
Anormalidades do Olho/diagnóstico , Disco Óptico/anormalidades , Nervo Óptico/patologia , Tomografia de Coerência Óptica/métodos , Adulto , Anormalidades do Olho/fisiopatologia , Humanos , Pressão Intraocular , Masculino
16.
Am J Med Genet A ; 173(9): 2439-2441, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28631893

RESUMO

Varadi syndrome is a subtype of orofaciodigital syndrome (OFDS) that combines the typical features of OFDS and the posterior fossa features of Joubert syndrome. The only gene known to be mutated in Varadi syndrome is C5ORF42. In this report, we describe the phenotype of a patient with Varadi syndrome who is homozygous for a previously reported mutation in TCTN1 (NM_001082538.2:c.342-2A>G, p.Gly115Lysfs*8) and suggest that allelic disorders linked to TCTN1 include Varadi syndrome, in addition to Joubert syndrome and Meckel-Gruber syndrome.


Assuntos
Anormalidades Múltiplas/genética , Cerebelo/anormalidades , Anormalidades do Olho/genética , Doenças Renais Císticas/genética , Proteínas de Membrana/genética , Síndromes Orofaciodigitais/genética , Retina/anormalidades , Anormalidades Múltiplas/fisiopatologia , Alelos , Sequência de Bases/genética , Cerebelo/fisiopatologia , Pré-Escolar , Transtornos da Motilidade Ciliar/genética , Transtornos da Motilidade Ciliar/fisiopatologia , Encefalocele/genética , Encefalocele/fisiopatologia , Anormalidades do Olho/fisiopatologia , Humanos , Doenças Renais Císticas/fisiopatologia , Masculino , Síndromes Orofaciodigitais/fisiopatologia , Fenótipo , Doenças Renais Policísticas/genética , Doenças Renais Policísticas/fisiopatologia , Retina/fisiopatologia , Retinite Pigmentosa
17.
Am J Med Genet A ; 173(9): 2489-2493, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28657660

RESUMO

6p25 deletion is a rare but well-known entity. The main clinical features include an abnormal facial appearance, developmental delay, and ocular anomalies. Cardiac anomalies are frequently seen but remain poorly delineated. We describe a 4-year-old girl with 6p25.3 deletion, which includes the FOXC1 gene, typical dysmorphic features associated with developmental delay and oculo-motor anomalies. Aortic valve dysplasia was diagnosed early in life. The cardiac lesion progressed very rapidly between the age of 3 and 4 years requiring aortic valve replacement. Genomic analysis of blood and excised valve tissue showed down-regulation of FOXC1 but also FOXC2 expression in the diseased aortic valve. This allows us to speculate on the potential role of FOXC1 in aortic valve anomalies.


Assuntos
Anormalidades Múltiplas/genética , Fatores de Transcrição Forkhead/genética , Cardiopatias Congênitas/genética , Doenças das Valvas Cardíacas/genética , Anormalidades Múltiplas/fisiopatologia , Valva Aórtica/fisiopatologia , Pré-Escolar , Deleção Cromossômica , Cromossomos Humanos Par 6/genética , Anormalidades do Olho/genética , Anormalidades do Olho/fisiopatologia , Feminino , Regulação da Expressão Gênica , Haploinsuficiência/genética , Cardiopatias Congênitas/fisiopatologia , Doenças das Valvas Cardíacas/fisiopatologia , Humanos , Fenótipo
18.
J AAPOS ; 21(4): 300-304.e1, 2017 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-28652051

RESUMO

PURPOSE: To describe and analyze ocular features in infants with microcephaly due to presumed congenital Zika syndrome. METHODS: Ophthalmologic evaluation, including indirect ophthalmoscopy and eye fundus imaging, visual acuity testing with Teller Acuity Cards, and strabismus assessment were performed in infants with microcephaly at a nongovernmental organization clinic for visually disabled children. RESULTS: A total of 70 infants with microcephaly were referred to the clinic. Of these, 25 (mean age, 3 months; 14 males) had ophthalmologic changes: 18 (26%) had intraocular abnormalities, including macular chorioretinal atrophy, mottled retinal pigment epithelium and optic nerve pallor; 7 patients (10%) had strabismus or nystagmus without intraocular abnormalities. Visual acuity was below normal range in all 11 infants tested. CONCLUSIONS: Ophthalmologic abnormalities occurred in 36% of the patients. Macular circumscribed chorioretinal atrophy, focal mottled retinal pigment epithelium, optic nerve pallor, early-onset strabismus, nystagmus and low visual acuity were common ophthalmological features in infants with microcephaly due to presumed congenital Zika syndrome.


Assuntos
Anormalidades do Olho/virologia , Microcefalia/virologia , Transtornos da Visão/virologia , Infecção por Zika virus/congênito , Anormalidades do Olho/fisiopatologia , Feminino , Humanos , Lactente , Masculino , Microcefalia/fisiopatologia , Nistagmo Congênito/fisiopatologia , Nistagmo Congênito/virologia , Oftalmoscopia , Estrabismo/congênito , Estrabismo/fisiopatologia , Estrabismo/virologia , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia , Pessoas com Deficiência Visual , Infecção por Zika virus/fisiopatologia
19.
Vestn Oftalmol ; 133(2): 104-113, 2017.
Artigo em Russo | MEDLINE | ID: mdl-28524149

RESUMO

The review covers general clinical features of particular congenital anomalies of the human eye associated with its abnormal embryonic development. Principal literature sources on evaluation of congenital changes in the vitreous body and identification of its 'underdevelopment' in certain types of congenital cataracts have been studied. The said changes were analyzed with account to general pathology of the human body as well as local morphological manifestations. Covered is the time period from the end of the XIX century to the present. According to the authors, their analysis helps justify the use of digital three-dimensional ultrasound examination for intravital evaluation of congenital changes in the lens and vitreous.


Assuntos
Anormalidades do Olho , Cristalino/anormalidades , Corpo Vítreo/anormalidades , Técnicas de Diagnóstico Oftalmológico , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/fisiopatologia , Humanos , Cristalino/patologia , Corpo Vítreo/patologia
20.
Am J Med Genet A ; 173(6): 1668-1672, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28407396

RESUMO

Stromme syndrome is a rare genetic disorder characterized by microcephaly, anterior ocular chamber anomalies, and "apple peel" type jejunal atresia. Here, we report a Stromme syndrome family with two affected siblings with a homozygous truncating frameshift mutation in CENPF. A 3-month-old girl was hospitalized due to prenatally diagnosed microcephaly, microphthalmia, and dysmorphological features. The history of a previous child with the same findings in addition to "apple peel" intestinal atresia had been noted. Regarding the clinical features of both affected siblings, a diagnosis of Stromme syndrome was established. Exome-sequencing of these two cases showed the homozygous mutation (c.5912_5913insA)/(p.T1974Nfs*9) in CENPF. While confirmation of this gene being responsible for Stromme syndrome was pending our results, Filges et al. reported that CENPF was indeed underlying the reason for Stromme syndrome. This is the second case report identifying CENPF mutation as the cause of Stromme syndrome.


Assuntos
Anormalidades Múltiplas/genética , Proteínas Cromossômicas não Histona/genética , Anormalidades do Olho/genética , Atresia Intestinal/genética , Microcefalia/genética , Proteínas dos Microfilamentos/genética , Anormalidades Múltiplas/fisiopatologia , Sequência de Bases , Anormalidades do Olho/fisiopatologia , Feminino , Homozigoto , Humanos , Lactente , Atresia Intestinal/fisiopatologia , Microcefalia/fisiopatologia , Mutação , Linhagem , Irmãos
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