Coexistence of Straatsma syndrome without macular extension and abnormal ellipsoid zone / Coexistência da síndrome de Straatsma sem extensão macular e zona elipsoide anormal

ABSTRACT Myelinated retinal nerve fibers are rare congenital anomalies that appear as gray-white patches. They may be present in a syndrome characterized by ipsilateral myelinated retinal nerve fibers, myopia and amblyopia. The author reported an ellipsoid zone defect on spectral domain optical coherence tomography in a case of Straatsma syndrome without macular extension.

RESUMO Fibras nervosas retinais mielinizadas são anomalias congênitas raras que aparecem como manchas branco-acinzentadas. Eles podem se apresentar em uma síndrome caracterizada por fibras nervosas retinais mielinizadas ipsilaterais, miopia e ambliopia. O autor relatou um defeito na zona elipsoide na tomografia de coerência óptica de domínio espectral em um caso de síndrome de Straatsma sem extensão macular.

PHACE syndrome: clinical manifestations, diagnostic criteria, and management

Abstract: Infantile hemangioma can be linked to other organ malformations. In 1996, PHACE syndrome was first defined as the association of large and segmental infantile hemangioma, usually on the face, head, or cervical region, with malformations of the posterior fossa of the brain, arterial anomalies of the central nervous system, coarctation of the aorta, cardiac defects, and ocular abnormalities. Over 300 cases of PHACE syndrome have been reported, and it is cconsidered one of the most common neurocutaneous vascular disorders in childhood. Knowledge of the features and locations of lesions that imply a greater risk of systemic involvement is crucial for the diagnosis and proper management of PHACE syndrome patients. This review highlights the diagnostic criteria for PHACE syndrome, the imaging workup for extracutaneous involvement, the treatment of infantile hemangioma, and the importance of a multidisciplinary approach in the management of these patients.

Acoustic radiation force impulse elastography of the eyes of brachycephalic dogs / Elastografia acoustic radiation force impulse dos olhos de cães braquicefálicos

Eyes from brachycephalic dogs were studied by acoustic radiation force impulse (ARFI) elastography to establish quantitative and qualitative reference values related to the shape and rigidity of some ocular structures. Eighty-four eyes from 42 adult brachycephalic dogs were included in this study. Animals were subjected to physical, laboratory, and ophthalmic examinations. Following confirmation of good health, the dogs were subjected to ultrasonography and ARFI elastography, emphasizing the optic nerve, ciliary body, and lens. On qualitative elastography, homogeneous characteristics were observed on the ciliary body and optic nerve. Aqueous and vitreous humors were visualized as mosaic-like images. Quantitative elastography showed the mean optic nerve shear wave velocity (SWV) was 1.01±0.27m/s, temporal ciliary body was 0.91±0.24m/s, and nasal ciliary body was 0.91±0.3m/s. The SWV of the lens values were out of range, this value was not detectable by this software. Elastography has proved to be a non-invasive procedure and feasible in dogs. The establishmentof the parameters of degree of rigidity of ocular structures will serve as a baseline for animals with eye disorders. Results may be extrapolated to primary research on the applicability of ARFI in the evaluation of ocular bulb in humans.(AU)

Estruturas oculares de cães braquicéfalos foram estudadas por elastografia acoustic radiation force impulse (ARFI) para estabelecer valores quantitativos e qualitativos de referência relacionados com a forma e a rigidez de algumas estruturas oculares. Foram avaliados 84 olhos de 42 cães braquicéfalos neste estudo. Os animais foram submetidos aos exames físico, laboratorial e aos exames oftalmológicos. Após a confirmação da sanidade dos pacientes, os cães foram submetidos à ultrassonografia e à elastografia ARFI, enfatizando-se o nervo óptico, o corpo ciliar e a lente. Para elastografia qualitativa, foram observadas características homogêneas no corpo ciliar e no nervo óptico. Os humores aquoso e vítreo foram visibilizados como imagens tipo mosaico. A elastografia quantitativa demonstrou velocidades de cisalhamento para nervo óptico de 1,01±0,27m/s, para corpo ciliar temporal de 0,91±0,24m/s e para corpo ciliar nasal de 0,91±0,3m/s. Valores dessas velocidades para lentes apresentaram-se fora do intervalo: X.XXm/s. A elastografia provou ser um procedimento não invasivo e viável para cães. Estabelecidos os parâmetros do grau de rigidez das estruturas oculares, futuramente tais dados servirão como padrão para avaliação de animais com os distúrbios oculares. Os resultados podem ser extrapolados para a pesquisa primária sobre a aplicabilidade da ARFI na avaliação do bulbo ocular em seres humanos.(AU)

Linguagem, comportamento e neurodesenvolvimento na Síndrome de Joubert: relato de caso / Language, behavior and neurodevelopment in Joubert syndrome: a case report

RESUMO A síndrome de Joubert (SJ) é uma condição genética heterogênea, rara, do grupo das ciliopatias. Mais de 20 genes foram identificados relacionados com este fenótipo. As principais manifestações incluem hipotonia, ataxia, atraso psicomotor, apraxia oculomotora e anormalidades respiratórias neonatais. O objetivo deste artigo foi apresentar achados de linguagem e neurodesenvolvimento de um indivíduo com diagnóstico da SJ. Foi realizada a anamnese, avaliação genética clínica, observação do comportamento comunicativo, avaliação da linguagem, o Teste de Screening de Desenvolvimento Denver-II (TSDD-II) e a Early Language Milestone Scale (ELMS). Os principais achados da Ressonância Magnética do encéfalo mostraram grave hipoplasia do vérmis cerebelar, “sinal do dente molar”, tronco cerebral hipoplásico, atrofia dos hemisférios cerebelares. A avaliação da linguagem mostrou ausência de oralidade, prejuízo na recepção da linguagem, confirmando o diagnóstico de transtorno de linguagem, com grau de comprometimento grave. O TSDD-II e a ELMS comprovaram a observação e avaliação clínica e indicaram atraso grave nos domínios motor, autocuidados e de linguagem receptiva e expressiva. Diante da presença de hipotonia, ataxia, atraso psicomotor e anormalidades respiratórias neonatais é imprescindível a realização de exame por imagem e avaliação genética para o diagnóstico desta condição, tão complexa, com necessidades terapêuticas peculiares. Este conjunto de achados, associado à história familial e características fenotípicas peculiares reforçam o diagnóstico genético clínico da SJ. Esta síndrome genética é pouco reconhecida e merece ser apresentada para o reconhecimento da comunidade científica, visando o diagnóstico correto e planejamento terapêutico que minimize os efeitos deletérios desta condição.

ABSTRACT The Joubert syndrome (JS) is a rare, heterogeneous genetic condition among the ciliopathies. More than 20 genes have been identified associated with this phenotype. The main manifestations include hypotonia, ataxia, psychomotor retardation, ocular-motor apraxia and neonatal respiratory abnormalities. The objective of this paper was to present language and neurodevelopmental findings of an individual diagnosed with JS. The following procedures were performed: anamnesis, clinical genetic evaluation observation of communicative behavior, evaluation of language, the Denver Developmental Screening Test II (DDST-II) and the Early Language Milestone Scale (ELMS). The main findings of the MRI brain showed severe hypoplasia of the cerebellar vermis, “molar tooth sign”, hypoplastic brain stem and atrophy of the cerebellar hemispheres. The observation and evaluation of the language showed no oral, impaired reception of language, confirming the diagnosis of language disorder with severe degree of impairment. The DDST-II and the ELMS confirmed the observation and clinical assessment and indicated serious delay in motor domains, self-care and receptive and expressive language. Given the presence of hypotonia, ataxia, delayed psychomotor and neonatal respiratory abnormalities it is essential to carry out examination imaging and genetic evaluation for the diagnosis of this condition, so complex, with unique therapeutic needs. This set of findings, along with the familial history and unique phenotypic characteristics reinforce the clinical genetic diagnosis JS. This genetic syndrome is rarely recognized and deserves to be presented to the recognition of the scientific community, targeting the correct diagnosis and treatment planning that minimizes the deleterious effects of this condition.

Prevalence of plateau iris configuration in primary angle closure glaucoma using ultrasound biomicroscopy in the Indian population.

Purpose: To report the prevalence of plateau iris in patients with primary angle closure glaucoma (PACG), in North India. Materials and Methods: The patients with PACG, attending the glaucoma services at a tertiary care center in North India were included in the study. All patients had undergone Nd-YAG laser peripheral iridotomy at least four weeks prior to inclusion in the study. Four weeks prior to inclusion in the study, none of the patients had used pilocarpine. Ultrasound Biomicroscopy (UBM) images were qualitatively evaluated and plateau iris configuration was defined in an eye if the following criteria were fulfilled in two or more quadrants: anteriorly directed ciliary process supporting the peripheral iris, steep rise of iris root from its point of insertion followed by a downward angulation from the corneoscleral wall, absent ciliary sulcus, and iridotrabecular contact in the same quadrant. Results: One hundred and one eyes were included in the study. There were 63 (62.4%) females and 38 (37.6%) males. The mean age of the patients was 57.8 ± 9.5 years (range: 42 to 78 years). The mean axial length in the study population was 22.2 ± 1.1 mm. The mean spherical equivalent refraction was 0.06 ± 1.12 D. The mean intraocular pressure was 18.5 ± 4.7 mmHg (range: 12 – 24 mmHg). Twenty-nine (28.7%) subjects were diagnosed with plateau iris on the basis of above-defined criteria. Of the 29 eyes, 18 (62.1%) subjects had plateau iris in two quadrants, nine (31.03%) in three quadrants, and two (6.8%) had this configuration in all the four quadrants. Conclusions: Approximately 30% of the eyes with PACG had plateau iris on UBM. Plateau iris was very often the cause for residual angle closure following laser peripheral iridotomy in Indian eyes with PACG.

Application of ultrasound biomicro-scopy in the planning of cataract surgery in anterior megalophthalmos.

Anterior megalophthalmos, a rare hereditary disorder, is macrocornea (horizontal corneal diameter more than 13 mm) in association with enlarged lens-iris diaphragm and ciliary ring. One of the major challenging issues in the cataract surgery of these patients is preventing intraocular lens (IOL) malposition, because of probable large capsular bag. Several approaches have been selected by previous surgeons, such as, custom-made anterior chamber IOLs. In this study, we show a normal capsular bag diameter despite ciliary ring enlargement, with application of ultrasound biomicroscopy (UMB). We suggest that in cases of anterior megalophthalmos without phacodonesis, UBM could measure the actual size of the capsular bag and obviate the need for further procedures.

Diagnosis of ocular congenital anomialies by ultrasonography

To demonstrate the different ocular anomalies diagnosed by B-Scan ultrasonography in pediatric Ophthalmology clinic. 300 children, with either opaque media or difficult examination without anaethesia were examined using B-scan ultrasonography looking for suspected congenital anomalies. Different congenital anomalies were detected on examination and their percentages were recorded. Different ophthalmological anomalies when detected early can help to identify the prognosis of these cases to interfere as early as possible or prevent unnecessary interference