Inyección de gas intravítreo combinada con fotocoagulación con láser de argón para el tratamento de la maculopatía de la foseta del disco óptico sin vitrectomía / Intravitreal gas injection combined with argon laser photocoagulation for treatment of optic disc pit maculopathy without vitrectomy

RESUMEN Presentamos el caso de un paciente con foseta del disco óptico, quien presentó una disminución de la agudeza visual secundaria a desprendimiento seroso de retina. Se decidió realizar una inyección intravítrea de 0.3ml de gas C3F8 (100%), seguida de fotocoagulación con láser de argón en el borde temporal de la foseta, logrando reaplicación total de la retina, con reabsorción de todo el líquido subretiniano visible en la tomografía de coherencia optica (OCT) luego de 400 días. Además hubo una mejoría significativa en la agudeza visual.

ABSTRACT We present the case of a patient with an optic disk pit, presenting with great loss of visual acuity secondary to serous retinal detachment. The management chosen was an intravitreal injection of 0.3 mL of C3F8 (100%), followed by argon laser photocoagulation on the temporal edge of the pit, ), achieving total retinal reattachment , and reabsorption of all subretinal fluid visible at optical coherence tomography after 400 days, in addition to great improvement in visual acuity.

Inverted internal limiting membrane flap for the management of optic disc pit maculopathy / Técnica do flap invertido da membrana limitante interna para o manejo da maculopatia causada pela fosseta do disco óptico

ABSTRACT Optic disc pit is a rare congenital anomaly that can cause serous macular detachment. It has no universally accepted single treatment. Recently, several investigators have performed new procedures to directly seal the pit. Herein, we report a case showing a promising method for optic pit maculopathy surgical treatment. We created an inverted internal limiting membrane flap and fold it over the pit to promote barrier in order to stop further fluid accumulation. Gradual absorption of subretinal fluid was observed over 12 months of follow-up. Optical coherence tomography can demonstrate internal limiting membrane folded over the pit and progressive subretinal fluid resolution. This technique resulted in a satisfactory anatomic outcome with good functional improvement in the best-corrected visual acuity.

RESUMO A fosseta do disco óptico é uma rara anomalia con gênita que pode causar descolamento de retina seroso na mácula. Não há um tratamento cirúrgico padrão universalmente aceito. Recentemente, cirurgiões têm realizado procedimentos novos que visam selar o buraco diretamente. Esse caso clínico mostra um método promissor para o tratamento cirúrgico da maculopatia causada pela fosseta do disco. Optamos por criar um flap invertido com a membrana limitante interna, dobrando-o sobre a fosseta para promover uma barreira, impedindo o acúmulo de fluido. A absorção gradual do líquido subretiniano foi observada ao longo de 12 meses de acompanhamento. Imagens de tomografia de coerência óptica podem demonstrar a membrana limitante interna dobrada sobre a fosseta e a resolução progressiva do fluido subretiniano. Esta técnica resultou em um resultado anatômico satisfatório com boa melhora funcional na acuidade visual.

Drusa de nervo ótico associada à estafiloma peripapilar congênito / Optic disk drusen associated with congenital peripapillary staphyloma

Resumo Nós descrevemos uma rara associação entre estafiloma peripapilar congênito e drusa de disco óptico em uma mulher de 47 anos de idade e visão normal.

Abstract We described a rare association between peripapillary staphyloma and optic disk drusen in a woman with 47 years old and normal vision.

Desprendimiento seroso macular asociado a fosetas papilares tratado con fotocoagulación / Serous macular detachment associated to optic disc pits treated with photocoagulation

Las fosetas congénitas papilares son poco comunes. Se trata de una entidad caracterizada típicamente por depresiones papilares unilaterales, ovales, de color blanco grisáceo. Reportamos un caso con dicha entidad asociada al desprendimiento seroso tratado con fotocoagulación. Se realizó un estudio descriptivo a una paciente femenina de 14 años quien refirió pérdida de visión del ojo izquierdo de un mes de evolución. Se realizó fotocoagulación láser al borde yuxtapapilar temporal de la foseta, con evoluciones al mes y a los 3, 6, 9, 12 y 24 meses posteriores, mediante tomografía de coherencia óptica, mejor agudeza visual corregida y oftalmoscopia. Se logró progresiva disminución del desprendimiento macular y mejoría de la agudeza visual desde el primer mes de control. A los 9 meses se observó normal arquitectura macular en la tomografía de coherencia óptica y mejoría de la agudeza visual a 20/25 (95 VAR), con iguales resultados en los controles a los 12 y 24 meses. La terapéutica con fotocoagulación puede resultar eficiente, simple, mínimamente invasiva y económica para la maculopatía asociada a la foseta papilar(AU)

Congenital optic disc pits are an infrequent condition typically characterized by unilateral oval grayish-white papillary depressions. A case report is presented of this condition associated to serous detachment treated with photocoagulation. A descriptive study was conducted of a 14-year-old female patient who reported loss of vision in her left eye with a month of evolution. Laser photocoagulation was performed on the temporal juxtapapillary edge of the pit, with evolution checks at 3, 6, 9, 12 and 24 months by optical coherence tomography, best corrected visual acuity and ophthalmoscopy. Progressive macular detachment reduction and visual acuity improvement were observed since the first control. At 9 months optical coherence tomography showed a normal macular architecture and visual acuity improvement to 20/25 (95 VAR) with identical results at 12 and 24 months. Photocoagulation therapy may be efficient, simple, minimally invasive and economical for maculopathy associated to optic disc pits(AU)

Desprendimiento seroso macular asociado a foseta papilar congénita y coloboma de papila: ¿Qué opciones terapéuticas tenemos? / Macular serous detachment associated to congenital papillary pit and papillary coloboma: What treatment options do we have?

La foseta papilar es una rara anomalía congénita que forma parte del espectro de las anormalidades congénitas del disco óptico. Se trata de invaginaciones intrapapilares que suelen localizarse en el margen del disco óptico. La mayoría se localiza a nivel temporal; en torno al 20 por ciento son de localización central seguidas por las fosetas superiores, inferiores o nasales. La bilateralidad se estima en un 10-15 por ciento y su incidencia se ha establecido en torno al 0,19 por ciento. Suelen ser asintomáticas, aunque en aproximadamente el 50 por ciento de los casos se produce afectación macular por el paso de fluido procedente desde la foseta papilar hacia las diferentes capas retinianas, lo que afecta secundariamente la agudeza visual y es, por tanto, el motivo de consulta. Hasta el momento se han descrito múltiples alternativas terapéuticas para el tratamiento de los desprendimientos de retina serosos asociados a foseta de papila, pero ninguna de estas alternativas se ha impuesto sobre el resto. El tratamiento de esta enfermedad consiste en cerrar la comunicación entre la foseta y el espacio subretiniano con diversas opciones terapéuticas como: la fotocoagulación láser, la neumoretinopexia, la indentación escleral posterior, la fenestración del nervio óptico, la vitrectomía o alguna combinación de las anteriores. La actual revisión bibliográfica se propone profundizar en el tema, sobre la base de pacientes en consulta con dicha afección retiniana(AU)

Papillary pit is a rare congenital anomaly that is part of the congenital optic disc anomaly spectrum. It deals with intrapapillary invaginations that may be located at the border of the optic disc. Most of them is located at temporal level, around 20 percent are located centrally followed by upper, lower and nasal pits. Bilateral pits are estimated to be 10-15 percent and their incidence has been set at 0.19 percent. They are asymptomatic although 50 percent of cases suffer macular damage due to the passing of fluid from the papillary pit to the different retinal layers, which affecgs in a secondary way the visual acuity and thus it is the reason to go to the ophthalmologist. Multiple therapeutic alternatives for the treatment of papillary pit-associated serous retinal detachments have been described but none of them has predominated over the others. The treatment of this disease consists of closing the communication between the pit and the subretinal space with several therapeutic options such as laser photocoagulation, pneumoretinopexia, posterior scleral indentation, optic nerve fenestration, vitrectomy or any combination of the above-mentioned methods(AU)

Coexistence of optic pit and coloboma of iris, lens, and choroid: a case report / Coexistência de fosseta óptica e coloboma de íris, cristalino e coroide: um primeiro relato de caso

ABSTRACT A 42-year-old woman was admitted to our clinic with a complaint of glare in both eyes. Biomicroscopic examination of both the eyes revealed iris and lens colobomas in the inferior quadrant. Fundus examination of the right eye revealed an oval and gray inferotemporal optic pit and two choroid colobomas in the inferior quadrant. In the left eye, two choroid colobomas were detected that were inferior to the optic nerve head. Furthermore, a 21-year-old man presented to our clinic for a routine ophthalmologic examination. Bilateral biomicroscopic examination was normal. Fundus examination of the left eye revealed an oval and gray inferotemporal optic pit and a choroid coloboma that was inferior to the optic nerve head. Here we describe optic pits co-occurring with iris, lens, and choroidal colobomas. On the basis of these cases, a defect in the closure of the embryonic fissure is the most plausible etiology of the optic pit.

RESUMO Uma mulher de 42 anos de idade foi internada em nossa clínica com queixa de ofuscamento em ambos os olhos. O exame biomicroscópico revelou coloboma de íris e cristalino no quadrante inferior em ambos os olhos. O exame de fundo do olho direito revelou um fosseta óptica oval e acinzentada na região inferotemporal e dois colobomas coroide no quadrante inferior. No olho esquerdo, dois colobomas de coroide foram detectados inferiormente à da cabeça do nervo óptico. Outro homem de 21 anos apresentou-se em nossa clínica para um exame oftalmológico de rotina. O exame biomicroscópico foi normal, bilateralmente. O exame de fundo do olho esquerdo revelou uma fosseta oval e acinzentada de nervo óptico óptico inferotemporal e um coloboma coroide inferior à cabeça do nervo óptico. Nestes relatos nós descrevemos fossetas ópticas ocorrendo simultaneamente com colobomas de íris, cristalino, e coroide. Com base nestes casos, o defeito no fechamento da fissura embrionária é uma provável etiologia da fosseta óptica.

Corneal structure in tilted disc syndrome / Estrutura da córnea na síndrome de disco inclinado

ABSTRACT Purpose: To evaluate the central corneal thickness (CCT), corneal volume (CV), and anterior and posterior corneal surfaces using the Scheimpflug imaging system in patients diagnosed with tilted disc syndrome (TDS). Methods: The study group (Group 1) and the control group (Group 2) comprised 35 eyes of 35 age-, sex-, and refraction-matched cases. All cases underwent a full ophthalmic examination that included cycloplegic refraction, axial ocular length measurement, and Scheimpflug imaging. Results: The mean age was 34.68 ± 15.48 years in Group 1 and 34.11 ± 12.01 years in Group 2 (p=0.864). The gender distribution was 18 males and 17 females in Group 1 and 16 males and 19 females in Group 2 (p=0.618). All subjects were Caucasian. The spherical equivalent was 3.62 ± 1.75 D in Group 1 and 3.69 ± 1.51 D in Group 2 (p=0.850). There was no significant difference in age, sex, race, or spherical equivalent between groups. There was no significant difference in mean keratometric value and CV3 (the CV in the central 3 mm) between groups (p=0.232 and 0.172, respectively). There were statistically significant differences in CCT, CV5, and CV7 (CV in the central 5 and 7 mm3, respectively) and total CV between groups (p=0.008, 0.003, 0.023, and 0.019, respectively). The values of all parameters were lower in the study group than in the control group. There was also a statistically significant difference in the anterior elevation parameters of the cornea between groups (p<0.05). The mean values of Group 1 were higher than those of Group 2. There were statistically significant differences in the two parameters referring to the posterior elevation of the cornea between the two groups (p<0.05). Conclusion: The results of this study showed that eyes with TDS have thinner CCT, lower CV, and different anterior corneal curvature than normal eyes.

RESUMO Objetivo: Avaliar a espessura central da córnea (CCT), o volume de córnea (CV), e a superfície corneana anterior e posterior utilizando sistema de imagem Scheimpflug em pacientes com diagnóstico de síndrome do disco inclinado (TDS). Métodos: O grupo de estudo (grupo 1) e o grupo controle (grupo 2) consistiu de 35 olhos de 35 pacientes pareados por idade, sexo e refração em cada grupo. Todos os casos foram submetidos a um exame oftalmológico completo incluindo refração sob cicloplegia, medida do comprimento axial ocular e avaliação por Scheimpflug. Resultados: A idade média foi de 34,68 ± 15,48 anos no grupo 1 e 34.11 ± 12,01 anos no grupo 2 (p=0,864). A distribuição por sexo foi de 18 homens e 17 mulheres do grupo 1 e 16 homens e 19 mulheres no grupo 2 (p=0,618). Todos os indivíduos eram caucasianos. O equivalente esférico foi 3,62 ± 1,75 D no Grupo 1 e 3,69 ± 1,51 D no Grupo 2 (p=0,850). Não houve diferença significativa entre os dois grupos para idade, sexo, raça e equivalente esférico. Não houve diferença significativa entre os dois grupos para o valor médio ceratométrico e CV3 (o volume da córnea na central 3 mm) (p=0,232, p=0,172, respectivamente). Houve diferença estatisticamente significativa entre os dois grupos para CCT, CV5, CV7 (volume de córnea na região central 5 e 7 mm, respectivamente) e CV total (p=0,008, p=0,003, p=0,023 e p=0,019, respectivamente). Os valores do grupo de estudo foram menores do que o grupo controle para todos os parâmetros. Houve também diferença estatisticamente significativa entre os dois grupos nos parâmetros elevação anterior da córnea (p<0,05). Os valores médios do grupo 1 foram maiores do que o grupo 2. Não houve diferença entre os dois grupos para os dois parâmetros referentes à elevação posterior da córnea (p<0,05). Conclusões: Nosso estudo mostrou que os olhos com TDS apresentam CCT mais fina, menor volume da córnea e alterações na curvatura corneana anterior quando comparados aos olhos normais.

Congenital anomalies of the optic nerve

Congenital optic nerve head anomalies are a group of structural malformations of the optic nerve head and surrounding tissues, which may cause congenital visual impairment and blindness. Each entity in this group of optic nerve anomalies has individually become more prevalent as our ability to differentiate between them has improved due to better characterization of cases. Access to better medical technology [e.g., neuroimaging and genetic analysis advances in recent years] has helped to expand our knowledge of these abnormalities. However, visual impairment may not be the only problem in these patients, some of these entities will be related to ophthalmologic, neurologic and systemic features that will help the physician to identify and predict possible outcomes in these patients, which sometimes may be life-threatening. Herein we present helpful hints, associations and management [when plausible] for them

Evaluation of peripapillary choroidal and retinal nerve fiber layer thickness in eyes with tilted optic disc / Avaliação espessura da camada de fibras nervosas peripapilares da retina e coroide em olhos com disco óptico inclinado

Purpose: This study was performed to evaluate the retinal nerve fiber layer (RNFL) and peripapillary choroidal thickness in eyes with tilted optic disc in order to identify characteristic RNFL and peripapillary choroid patterns verified by optical coherence tomography (OCT). Methods: Twenty-nine eyes of 29 patients with tilted optic discs were studied with spectral-domain (SD)-OCT and compared with age and sex-matched control subjects in a prospective design. The imaging of RNFL was performed using circular scans of a diameter of 3.4 mm around the optic disc using OCT. For measurements of peripapillary choroidal thickness, the standar d protocol for RNFL assessment was performed. Results: SD-OCT indicated significantly lower superotemporal (p<0.001), superonasal (p=0.001), and global (p=0.005) RNFL thicknesses in the tilted disc group than those of the control group. Peripapillary choroid was significantly thicker at the site of the elevated rim of eyes with tilted disc (p<0.001). Conclusion: This study demonstrated a clinical characterization of the main tilted disc morphologies that may be helpful in differentiating a tilted disc from other altered disc morphologies. Further studies are recommended to study the comparison between glaucoma and tilted disc groups. .

Objetivo: Avaliar camada de fibras nervosas da retina (RNFL) e a espessura da coroide peripapilar em olhos com disco óptico inclinado a fim de identificar as características da RNFL e os padrões de coroide peripapilar verificados pela tomografia de coerência óptica (OCT). Métodos: Vinte e nove olhos de 29 pacientes com discos ópticos inclinadas foram estudados prospectivamente com OCT de domínio espectral (SD) e comparados com controles pareados por sexo e idade. As imagens da RNFL foi obtidas por meio de varreduras circulares com um diâmetro de 3,4 mm em torno do disco óptico usando OCT. Para as medições de espessura da coroide peripapilar, o protocolo padrão para avaliação da RNFL foi realizado. Resultados: O OCT SD indicou diminuição das espessuras significativas da RNFL superotemporal (p<0,001), superonasal (p=0,001), e global (p=0,005) no grupo disco inclinado em relação aos do grupo controle. A coroide peripapilar foi significativamente mais espessa no local da borda elevada dos olhos com disco inclinado (p<0,001). Conclusões: Este estudo demonstrou que a caracterização clínica das principais morfologias disco inclinado pode ser útil na diferenciação entre um disco inclinado de outras alterações morfológicas de disco. Seria importante a comparação entre grupos com glaucoma e com discos inclinados, estudos futuros. .

Vitrectomia e troca fluido-gasosa para o tratamento do descolamento seroso da mácula por fosseta de disco óptico: avaliação de longo prazo / Vitrectomy and gas-fluid exchange for the treatment of serous macular detachment due to optic disc pit: long-term evaluation

OBJETIVO: Avaliar 5 olhos com descolamento seroso da mácula devido à fosseta de disco óptico que foram submetidos à vitrectomia via pars plana e seguidos por pelo menos 7 anos. MÉTODOS: Os pacientes foram submetidos à vitrectomia via pars plana, remoção da membrana hialoide posterior, injeção de soro autólogo e troca fluido-gasosa, sem aplicação de fotocoagulação a laser, e foram testados quanto à acuidade visual, tela de Amsler, retinografia e, recentemente, retinografia com autofluorescência e OCT de alta resolução. RESULTADOS: Todos os 5 olhos operados tiveram significativa melhora da visão após o procedimento cirúrgico, mantendo boa visão durante todo período de acompanhamento. A acuidade visual pré-operatoria média foi de 20/400 enquanto a acuidade visual final foi de 20/27 com um tempo médio de seguimento de 13,6 anos. Não foram observadas recorrências do descolamento seroso da mácula e os exames de OCT mostraram a retina perfeitamente aplicada até a margem da fosseta de disco óptico. CONCLUSÃO: Descolamentos serosos da mácula causados por fosseta de disco óptico são adequadamente tratados com vitrectomia via pars plana e troca fluido-gasosa, sem a necessidade de fotocoagulação da retina, mantendo excelente acuidade visual por vários anos após o procedimento, sem o aparecimento de recorrências.

PURPOSE: To evaluate 5 patients with serous macular detachment due to optic disc pit that were submitted to pars plana vitrectomy and were followed for at least 7 years. METHODS: Patients were submitted to pars plana vitrectomy, posterior hyaloid removal, autologous serum injection and gas-fluid exchange, without laser photocoagulation, and were evaluated pre and post-operatively with visual acuity and Amsler grid testing, retinography, and recently, with autofluorescence imaging and high resolution OCT. RESULTS: All 5 eyes improved visual acuity significantly following the surgical procedure maintaining good vision throughout the follow-up period. Mean pre-operative visual acuity was 20/400 and final visual acuity was 20/27 with a mean follow-up time of 13.6 years. No recurrences of serous detachments were observed. OCT examinations demonstrated an attached retina up to the margin of the pit. CONCLUSION: Serous macular detachments due to optic disc pits were adequately treated with pars plana vitrectomy and gas fluid exchange, without the need for laser photocoagulation, maintaining excellent visual results for a long period of time.

Associação de microburaco macular e fosseta de papila / Association of macular microhole and optic disc pit

A fosseta de papila do nervo óptico e o microburaco macular são duas patologias raras, cuja probabilidade de coexistência se torna extremamente baixa, embora não haja relação fisiopatológica entre ambas, descreveremos um caso de associação das mesmas, acometendo comumente um olho, a fim de analisar as manifestações clínicas, os exames de OCT, angiografia, retinografia, biomocroscopia, o tratamento e a correlação entre ambas patologias.

Optic disc pit and macular microhole are two rare pathologies with an extremely low likelihood of coexistence, this paper will report an association of both pathologies in the same eye with the purpose of analyzing clinical manifestations, tests, angiography, OCT, retinography, biomocroscopy, treatment outcome and the connection between the optic disc pit and macular microhole.

Optic nerve hypoplasia

Optic nerve hypoplasia [ONH] is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. With a vast number of cases now being reported, the rarity of ONH is obviously now refuted. The major aspects of ophthalmic evaluation of an infant with possible ONH are visual assessment, fundus examination, and visual electrophysiology. Characteristically, the disc is small, there is a peripapillary double-ring sign, vascular tortuosity, and thinning of the nerve fiber layer. A patient with ONH should be assessed for presence of neurologic, radiologic, and endocrine associations. There may be maternal associations like premature births, fetal alcohol syndrome, maternal diabetes. Systemic associations in the child include endocrine abnormalities, developmental delay, cerebral palsy, and seizures. Besides the hypoplastic optic nerve and chiasm, neuroimaging shows abnormalities in ventricles or white- or gray-matter development, septo-optic dysplasia, hydrocephalus, and corpus callosum abnormalities. There is a greater incidence of clinical neurologic abnormalities in patients with bilateral ONH [65%] than patients with unilateral ONH. We present a review on the available literature on the same to urge caution in our clinical practice when dealing with patients with ONH. Fundus photography, ocular coherence tomography, visual field testing, color vision evaluation, neuroimaging, endocrinology consultation with or without genetic testing are helpful in the diagnosis and management of ONH. [Method of search: MEDLINE, PUBMED].

Uveitis as first manifestation of probably Crohn's disease / Uveíte como primeira manifestação de provável doença de Crohn

Extraintestinal manifestations of Crohn's disease are common. Although ocular complications of Crohn's disease are infrequent, most ocular manifestations include iritis, uveitis, episcleritis, scleritis and conjuntivitis. We report a patient who developed uveitis two years before diagnose of Crohn's disease.

Manifestações extraintestinais da doença de Crohn são comuns. As manifestações oculares são infrequentes e caracterizam-se em sua maioria por irite, uveíte, episclerite, esclerite e conjuntivite. Relatamos o caso de uma paciente que desenvolveu uveíte dois anos antes de firmado o diagnóstico de doenca de Crohn.

Optic Disc Pit with Peripapillary Retinoschisis Presenting as a Localized Retinal Nerve Fiber Layer Defect

A 59-year-old woman was referred to our clinic for a glaucoma evaluation. The visual acuity and intraocular pressure were normal in both eyes. However, red-free fundus photography in the left eye showed a superotemporal wedge-shaped retinal nerve fiber layer defect, and visual field testing showed a corresponding partial arcuate scotoma. In an optical coherence tomography examination, the macula was flat, but an arcuate-shaped peripapillary retinoschisis was found. Further, the retinoschisis seemed to be connected with a superotemporal optic pit shown in a disc photograph. After 3 months of a topical prostaglandin analogue medication, the intraocular pressure in the retinoschisis eye was lowered from 14 to 10 mmHg and the peripapillary retinoschisis was almost resolved. We report a rare case of an optic disc pit with peripapillary retinoschisis presenting as a localized retinal nerve fiber layer defect.

Dupla fosseta unilateral de disco óptico: relato de caso / Unilateral double optic disc pit: case report

O presente caso refere-se a um paciente do sexo masculino, 72 anos de idade com quadro de baixa acuidade visual no olho esquerdo de longa data, e em uso de maleato de timolol 0,5 por cento em ambos os olhos devido a uma suspeita de glaucoma. Observou-se à oftalmoscopia uma dupla fosseta de disco óptico no olho esquerdo. O colírio hipotensor foi suspenso e a pressão intraocular continuou normal em ambos os olhos. O paciente foi então submetido a uma tomografia de coerência óptica, que se mostrou compatível com o quadro apresentado.

The patient was a 72-year-old male with a 1 year history of low visual acuity in the left eye. He was in use of 0.5 percent timolol maleate in both eyes due to glaucoma suspicion. Ophthalmoscopic examination of the left eye revealed a double optic disc pit. The hypotensive agent was discontinued and the intraocular pressure remained in the normal range in both eyes. The patient was submitted to an optical coherence tomography, which was correlated with the presented case.

Unilateral situs inversus of optic disc associated with reduced binocularity and stereoacuity resembling monofixation syndrome.

Situs inversus of the optic disc is a rare, usually bilateral, congenital embryological abnormality associated with high myopia, optic disc coloboma or tilted optic disc. It is characterized by emergence of the retinal vessels in an anomalous direction with dysversion of the optic disc. In this report we present a 13-year-old boy diagnosed with isolated, unilateral situs inversus of the optic disc associated with reduced binocularity and stereoacuity resembling a monofixation syndrome. The clinicians should be aware of this association and assess the binocularity in patients with unilateral optic disc or macular anomalies. Conversely, patients with reduced binocularity and stereoacuity should be carefully evaluated for macular or optic nerve anomalies, if not associated with strabismus, anisometropia and eccentric fixation. Typical fundus picture, optical coherence tomography and multifocal electro retinogram of the patient would be instructive to a clinician.

Aicardi syndrome: The importance of an ophthalmologist in its diagnosis.

Aicardi syndrome is a rare genetic disorder. The salient features of this syndrome include agenesis of corpus callosum, chorioretinal lacunae and infantile spasms. Of these three, chorioretinal lacunae is the most constant feature present. This case highlights the importance of fundus findings by an ophthalmologist in making the diagnosis of this rare syndrome.

Surgical treatment of macular detachment secondary to congenital pit of the optic disc: case report / Tratamento cirúrgico do descolamento macular secundário à fosseta congênita do disco óptico: relato de caso

The authors describe a patient with macular detachment in the right eye, secondary to congenital pit of the optic disc, submitted to vitrectomy, drainage of the subretinal fluid, perfluorocarbon, endolaser and perfluoropropane gas (C3F8). A sample of the vitreous humor was taken for comparative analysis with the subretinal fluid. Results of retinography, optical coherence tomography, and illustrations of the surgical procedure are presented. Optical coherence tomography revealed the detachment resolved 6 months after surgery. Visual acuity improved from 20/400 to 20/30. This surgical technique can lead to successful reattachment of the macula and improvement of central vision. Additionally, a qualitative and comparative analysis showed a similar biochemical composition of the subretinal fluid and the vitreous. Despite technical limitations, this analysis can confirm the pathophysiology of the disease, suggesting that the subretinal fluid may originate from the vitreous cavity in macular detachment secondary to congenital pit of the optic disc.

Os autores descrevem um paciente portador de descolamento macular secundário à fosseta congênita do nervo óptico no olho direito, submetido à vitrectomia, drenagem do fluido sub-retiniano, perfluorcarbono, endolaser e gás perfluoropropano (C3F8). Foi retirada amostra do humor vítreo para análise comparativa com o fluido sub-retiniano. São apresentadas retinografia, tomografia de coerência óptica e ilustrações do procedimento cirúrgico. Após 6 meses da cirurgia, houve resolução do descolamento evidenciada por meio da tomografia de coerência óptica. A acuidade visual melhorou de 20/400 para 20/30. A técnica cirúrgica utilizada pode ter melhorado os resultados obtidos. Adicionalmente, a análise bioquímica qualitativa e comparativa do fluido sub-retiniano e do vítreo mostrou composição semelhante. Apesar das limitações técnicas, esta análise pode corroborar na fisiopatogênese da doença, sugerindo que o fluido sub-retiniano pode ser originado da cavidade vítrea na fosseta congênita de papila.

Absence of mutations in Pax6 gene in three cases of Morning Glory syndrome associated with isolated growth hormone deficiency / A ausência de mutações no gene PAX6 em três casos de síndrome de Morning Glory associada à deficiência isolada de hormônio do crescimento

Morning glory syndrome (MGS) is a congenital optic disc dysplasia often associated with craniofacial anomalies, especially basal encephalocele and hypopituitarism. Clinical signs are varied and often occult. The PAX6 gene is involved in ocular morphogenesis and is expressed in numerous ocular tissues during development especially in the developing central nervous system. The aim of the present study is to evaluate PAX6 in MGS associated with isolated growth hormone deficiency. Three pre-pubertal males (A, B and C) with MGS and short stature due to growth hormone deficiency, treated with recombinant human growth hormone with limited response, were reported. Two of them had basal encephalocele. Coding and non-coding sequences corresponding of PAX6 different transcripts were analyzed by direct sequencing. Nucleotide variations causing putative aminoacid change were not observed. Patient A presented the new IVS2+9G>A transition, whereas patients A and C were heterozygous for known single nucleotide polymorphisms (SNP) within the intron 4. In addition, two SNP heterozygoses were observed for patient C in both intron 9 and 13. Sequencing also revealed several nucleotide variations in patient B. Two heterozygoses for known polymorphisms were identified along with a novel C>A nucleotide change in intron 4. This patient also presented a low number on the TG repeat in intron 9 and a new IVS11+33A>T transversion. Gene regulation and transcription of PAX6 are complex processes; there are two major protein isoforms, PAX6(-5a) and PAX6(+5a), and nine transcripts described. Furthermore, extra transcription regulatory elements have been postulated within PAX6 introns. Considering that neither population distributions on PAX6 polymorphism nor their linkeages with diseases have been reported, a functional effect due to alterations described here cannot be discarded.

A síndrome de Morning Glory (SMG) é uma displasia óptica congênita associada a anomalias craniofaciais, principalmente encefalocele basal e hipopituitarismo. Os sinais clínicos são variados e muitas vezes ocultos. O gene PAX6 está envolvido na morfogênese ocular e se expressa em vários tecidos oculares durante o desenvolvimento do sistema nervoso central. O objetivo deste estudo foi avaliar o gene PAX6 na SMG associada com deficiência isolada de hormônio de crescimento. Foram relatados três pacientes pré-púberes (A, B e C) com SMG e baixa estatura por deficiência de hormônio de crescimento tratados com hormônio de crescimento recombinante humano. As seqüências codificadoras e não-codificadoras correspondentes ao PAX6 em diferentes transcritos foram analisadas por seqüenciamento direto. Variações nucleotídeas com trocas pontuais de aminoácidos não foram encontradas. O paciente A apresentou uma transição nova IVS2+9G>A, enquanto os pacientes A e C foram heterozigotos para um polimorfismo (SNP) no íntron 4. Ainda, dois SNPs em heterozigose nos íntrons 9 e 13 foram observados no paciente C. O seqüenciamento também mostrou várias variações nucleotídeas no paciente B. Dois SNPs conhecidos com a alteração nucleotídea nova C>A no íntron 4 foram observados em heterozigose. Este paciente também apresentou um baixo número de repetições TG no íntron 9 e uma nova transversão IVS11+33A>T. A regulação e a transcrição do gene PAX6 são um processo complexo; existem 2 isoformas principais da proteína, PAX6(-5a) e PAX6(+5a) e 9 transcritos descritos. Considerando que nem a distribuição de SNPs no PAX6 e nem as suas ligações com as doenças foram relatadas, um defeito funcional devido às alterações descritas não pode ser descartado.

Basal encephalocele associated with morning glory syndrome: case report

The basal encephaloceles refer to rare entities and they correspond to herniation of brain tissue through defects of skull along the cribiform plate or the sphenoid bone. A rare morning glory syndrome, with characteristic retinal defect has been reported in association with basal encephaloceles. Hypophysis hormonal deficiencies may occur. We accounted for a pituitary dwarfism with delayed diagnosed transsphenoidal encephalocele associated with morning glory syndrome, showing the alterations found in retinography, computed tomography and magnetic resonance imaging.

As encefaloceles basais são entidades raras e correspondem a herniações do tecido cerebral através de um defeito do crânio, ao longo da lâmina crivosa etmoidal ou do osso esfenoidal. A rara síndrome morning glory, com alterações de fundo de olho características pode apresentar-se associada à encefalocele basal. Deficiências hormonais hipofisárias podem ocorrer. Relatamos caso de nanismo hipofisário com encefalocele transesfenoidal de diagnóstico tardio associada à síndrome de morning glory, mostrando as alterações na retinografia, tomografia computadorizada e ressonância magnética.