Manejo clinicoquirúrgico de la anoftalmia y de la microftalmia congénitas / Clinical and surgical management of congenital anophthalmia and microphthalmia

La anoftalmia y la microftalmia congénitas son defectos oculares poco frecuentes, generalmente identificados en el momento del nacimiento, como resultado de alteraciones en la organogénesis del ojo a consecuencia de la acción de factores genéticos y ambientales durante el desarrollo embrionario. Estas anomalías provocan grave discapacidad visual a las personas que la padecen, por lo que generan gran repercusión en el ámbito psicosocial. El diagnóstico y el tratamiento precoz permitirán la estimulación visual a edad temprana, la corrección parcial o total de la anomalía y una mejor calidad de vida de estos pacientes, aun cuando no sea posible evitar la ceguera. La conducta ante estas afecciones es compleja y controversial; constituyen un reto para el cirujano oculoplástico y para el protesista. Por esta razón se decide realizar una revisión bibliográfica para profundizar en el adecuado manejo clinicoquirúrgico de estas anomalías(AU)

Congenital anophthalmia and microphthalmia are infrequent ocular defects at the time of birth as a result of alterations in the organ genesis of the eye caused by the action of genetic and/or environmental factors during the embryonic development. These anomalies bring about serious visual impairment to people who suffer it and have great impact on the psychosocial context. Early diagnosis and treatment allows visual stimulation at younger ages, partial or total correction of the anomaly and a better quality of life for these patients, even when it is not possible to avoid blindness. The behavior before these affections is complex and controversial; it represents a challenge for the oculoplasty surgeon and the prosthesis specialist. The objective of this literature review was to delve into the adequate clinical and surgical management of these anomalies(AU)

Síndrome de Goltz / Goltz's syndrome

El síndrome de Goltz, o hipoplasia dérmica focal, es un desorden multisistémico raro que involucra la piel, el sistema músculo-esquelético, los ojos, el pelo, las uñas y el riñón, entre otros, con considerable variación en los rasgos clínicos. El examen oftalmológico del caso que se presenta corresponde a una niña con microftalmia en el ojo izquierdo, obstrucción del conducto nasolagrimal en el ojo derecho y coloboma de iris y del nervio óptico del ojo microftálmico, además de esotropia sensorial. El diagnóstico fue confirmado por genética como una hipoplasia dérmica focal que, a pesar de ser poco común, debemos conocerlo para poderlo identificar si se presentara en nuestra consulta(AU)

Goltz syndrome or focal dermal hypoplasia is a rare multisystemic disorder involving the skin, the musculoskeletal system, the eyes, the hair, the nails and the kidney among others, with considerable variation in clinical features. The ophthalmological examination of the case presented in this paper shows a girl who has microphthalmia in the left eye, nasolacrimal duct obstruction in the right eye and coloboma of the iris and optic nerve in the microphthalmic eye in addition to sensory esotropia. The diagnosis was confirmed by genetic studies and it was focal dermal hypoplasia, which is a rare disease but we should learn about it to be able to identify it if some patient with the disease goes to our service(AU)

Anoftalmia clínica associada a coloboma e malformações sistêmicas: etiologia e relação oftalmologista-paciente / Clinical anophthalmia and coloboma associated with systemic malformations: etiology and ophthalmologist-patient relationship

RESUMO O presente relato refere-se a uma paciente de 2 anos e 9 meses de idade, portadora de anoftalmia clínica à direita associada a coloboma posterior à esquerda e malformações sistêmicas. A mãe foi vacinada contra rubéola três meses antes da concepção e, ao nascimento, os exames laboratoriais mostraram título de anticorpos IgG de 267 UI/mL para rubéola e 3,5 UI/mL para citomegalovírus, sendo o IgM negativo para ambos. As anormalidades encontradas possuem características de síndrome da rubéola congênita (SRC) e infecção congênita por citomegalovírus. Também podem constituir alteração genética, decorrer de outras etiologias ou apresentarse sem explicação. A avaliação psicológica da paciente foi normal e a mesma encaminhada para reabilitação visual. A mãe manifestou sintomas depressivos e indicado tratamento especializado. Outros estudos serão necessários para esclarecer a etiologia das malformações oculares congênitas e os cuidados holísticos a serem valorizados durante a relação oftalmologista-paciente.

ABSTRACT This report refers to a two years and nine months patient, carrier of clinical anophthalmia in her right eye associated with posterior coloboma in her left eye and systemic malformations. The mother was vaccinated against rubella three months before conception and, at birth, the laboratory tests showed 267 IU/mL for rubella IgG antibodies level and 3,5 IU/mL for cytomegalovirus, being IgM antibodies negative for both. The abnormalities found have characteristics of congenital rubella syndrome (CRS) and congenital cytomegalovirus infection. It can also constitute genetic alteration, derive from other etiologies or present themselves without explanation. The patient’s psychological evaluation was within normal limits, being referred for vision rehabilitation. The mother manifested depressive symptoms, being shown to her specialized treatment. Further studies are needed to clarify the etiology of congenital eye malformations and the holistic cares to be valued during the relationship ophthalmologist-patient.

Congenital Complete Arhinia: Report of a Rare Case.

Congenital absence of the nose (arhinia) is extremely rare. Arhinia leads to severe airway impairment and poor feeding in the neonate. Th e degree of nasal absence varies from case to case. Here, we present a case of congenital complete arhinia associated with other craniofacial anomalies. Arhinia leads to severe respiratory distress and feeding problems in newborn warranting emergency management, but our case diff ers as the child was adapted to mouth breathing and naso-gastric tube feeding, giving us the opportunity to delay the defi nitive management for a few weeks yet avoiding the risk of operating in a small child to create nasal airway or tracheostomy on an emergency basis.

Nanophthalmos and situs inversus totalis.

Nanophthalmos is characterized by short axial length, high hypermetropia, thick sclera and a normal-sized crystalline lens. Situs inversus totalis is the mirror image of the normal morphology of the thoracic and abdominal viscera. To the best of our knowledge this is the first report of a nanophthalmic patient with situs inversus totalis. Therefore, we would like to invite the attention of our colleagues to our case and underline the importance of the systemic examination of the nanophthalmic patients to detect systemic malformations and visceral transpositions.

Rare association of eventration of left hemidiaphragm with ipsilateral thyroid agenesis.

Eventration is a well-known congenital malformation of the diaphragm, usually asymptomatic and diagnosed incidentally on chest radiography. It is sometimes associated with a number of other congenital syndromes and anomalies. We report a rare case of eventration of left hemidiaphragm associated with gastric volvulus, ipsilateral thyroid agenesis and microphthalmia.

Congenital orbital teratoma presenting as microphthalmos with cyst.

We report a rare case of non-communicating large orbital cyst with microphthalmos which was surgically separated from the globe and excised. Histopathology reported it to be a teratoma. Congenital cystic teratoma should be a part of the differential diagnosis in an infant presenting with a clinical picture of microphthalmos with orbital cyst, in view of the different management required.

Lenz microphthalmic syndrome in an Indian patient.

A case of Lenz microphthalmia syndrome in a seven-month-old male child having features of unilateral anophthalmia, microcephaly, external ear and finger abnormalities, hydrocele and hypospadias is being reported. The unilateral involvement and anophthalmia is rare in Lenz syndrome. The manifestation of hydrocele in association with this syndrome has not been seen in earlier cases. This is the first documented case from India.

Nanoftalmos: relato de caso / Nanophthalmos: case report

Relatar um caso de nanoftalmia, suas alterações características e cálculo biométrico, do Setor de Ultra-sonografia da Universidade Federal de São Paulo, Escola Paulista de Medicina (UNIFESP-EPM). Foi avaliada uma paciente com nanoftalmia. Apresentava diâmetro axial bastante reduzido em ambos os olhos (medida transpalpebral aproximada de 14 mm), câmara rasa e ângulo estreito visto na gonioscopia e documentada na biomicroscopia ultra-sônica (UBM), apresentava espessamento ocular, drusas de papila e glaucoma de ângulo fechado em ambos os olhos. A nanoftalmia ou a microftalmia primária são doenças raras, nem sempre bilaterais e devem ser acompanhadas devido às suas complicações, sendo que olhos bastante diminuídos em seu diâmetro axial apresentam cálculo biométrico difícil.

Síndrome de Aicardi: relato de caso / Aicardi syndrome: case report

Relatamos um caso de síndrome de Aicardi completa em criança do sexo feminino de 2 meses de idade com defeitos lacunares da coróide, espasmos em flexäo, agenesia de corpo caloso e alteraçöes eletrencefalográficas do tipo hipsarritmia assimétrica e alterna atendida no Serviço de Neuropediatria e Neurofisiologia clínica do Hospital de Base de Säo José do Rio Preto, SP.

Síndrome de Walker-Warburg / Walker-Warburg syndrome

Introducción. El síndrome de Walker-Warburg es una entidad autosómica recesiva que fue inicialmente descrita por Walker en 1942, quien destacó como hallazgos característicos de este síndrome la lisencefalia tipo II, malformaciones cerebrales y oculares. En 1989, Dobyns y col. reportaron que en este síndrome puede existir compromiso muscular variable. Caso clínico. Se describe el caso de una recién nacida de término, con antecedentes heredofamiliares de ser hija de padres no consanguíneos y 2 hermanos muertos en el período neonatal inmediato con hidrocefalia, encefalocele y catarata bilateral. Las manifestaciones clínicas de la paciente fueron: macrocefalia, masa occipital, catarata bilateral, microftalmía derecha e hipotonía generalizada. La resonancia magnética de cabeza mostró lisencefalia, hidrocefalia, cefalocele occipital, agenesia de vermix cerebeloso y microftalmía derecha. Se detectaron además niveles altos de creatininacinasa sérica. Conclusiones. Se hace algunas consideraciones con respecto al abordaje diagnóstico y se resalta la importancia de dar asesoramiento genético a la familia

Microftalmo com cisto: apresentaçäo de dois casos / Microphthalmos with cyst: report of 2 cases

Os autores apresentam dois casos de microftalmo com cisto, malformaçäo congênita de ocorrência rara devido ao fechamento incompleto da fenda embrionária. Säo abordados os aspectos clínicos, laboratoriais, estudos ecográficos e histopatológicos, bem como sua origem embrionária