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BACKGROUND: Myopic traction maculopathy (MTM) is a complication of pathological myopia and encompasses various pathological conditions caused by tractional changes in the eye. These changes include retinoschisis, foveal retinal detachment, and lamellar or full-thickness macular holes (FTMHs). This meta-analysis evaluated the safety and efficacy of novel surgical for treating MTM. METHODS: To compare the outcomes of different surgical approaches for MTM, multiple databases, including Web of Science, PubMed, Scopus, ClinicalTrials.gov, the Cochrane Central Register of Controlled Trials, Ovid MEDLINE, Embase, and the Meta-Register of Controlled Trials, were comprehensively searched. The meta-analysis was performed using RevMan 5.1. RESULTS: Nine comparative studies involving 350 eyes were included in this meta-analysis. There were significant differences between fovea-sparing internal limiting membrane peeling (FSIP) and standard internal limiting membrane peeling (ILMP). Preoperative best-corrected visual acuity BCVA (standard mean difference (SMD): -0.10, 95% CI: -0.32 to 0.12) and central foveal thickness CFT (SMD: 0.05, 95% CI: -0.22 to 0.33) were not significantly different (p = 0.39 and p = 0.71, respectively). However, the postoperative BCVA improved significantly (SMD = - 0.47, 95% CI: - 0.80, - 0.14, p = 0.006) in the FSIP group compared to the standard ILMP group. Postoperative CFT did not differ significantly between the two groups (p = 0.62). The FSIP group had a greater anatomical success rate than the other groups, although the difference was not statistically significant (p = 0.26). The incidence of postoperative macular hole formation was significantly lower (OR = 0.19, 95% CI = 0.07-0.54; p = 0.05) in the FSIP group than in the standard ILMP group. The unique characteristics of highly myopic eyes, such as increased axial length and structural changes, may have contributed to the greater incidence of FTMH in the ILMP group. CONCLUSION: Based on the findings of this meta-analysis, FSIP is the initial surgical approach for early-stage MTM and has shown promising outcomes. However, to establish the safest and most efficient surgical technique for treating different MTM stages, further comparative studies, specifically those focusing on ILMP and FSIP, are necessary. TRIAL REGISTRATION: Retrospectively registered.

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PURPOSE: In this study, we report a case of a young adult with X-linked juvenile retinoschisis (XLRS) with a rare pathogenic variant in the RS1 gene (c.522 + 2 T > A). METHODS: Ophthalmological evaluation, optical coherence tomography, full-field and multifocal electroretinograms and extensive genetic screening of genes related to visual loss were carried out in the participant. RESULTS: Clinical ophthalmological exams revealed a mild to moderate impairment of visual acuity. Retinal imaging showed bilateral foveal schisis, as well as normal a-wave, reduction in the b-wave amplitudes in dark- and light- adapted full-field electroretinograms, and abnormal oscillatory potentials. We found also diffuse amplitude reduction in multifocal electroretinogram arrays. A canonical splice variant was identified in the RS1 gene (c.522 + 2 T > A). CONCLUSION: A rare pathogenic variant of the RS1 gene was associated with diffuse retinal involvement (central and peripheral retina), probably in inner retina, and mild to moderate visual acuity impairment. The phenotypical characterization of rare mutations is relevant to provide information about the disease.

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ABSTRACT This case report presents the details of a 33-year-old female patient who was referred to a specialized retina service because of mild vision loss in her right eye). The patient's visual acuity was 20/25 in right eye and 20/50 in the left eye (; amblyopic); the spherical equivalent was -12.75 diopters (right eye) and -14.75 diopters (left eye). Multimodal retinal imaging showed peripapillary schisis in both the inner and outer retinal layers, grade II posterior vitreous detachment, and a tessellated fundus. Using Humphrey perimetry and MP-3 microperimetry, the functional evaluation indicated macular sensitivity within normal limits and decreased sensitivity in the peripapillary region, especially in right eye. The pattern-re versal visual evoked potential was measured. The N75 and P100 latency and amplitude in right eye were within normal values for checks of 1º. However, the amplitude was low for checks of 15′. Highly myopic patients who have posterior staphyloma that involves the optic nerve are susceptible to posterior hyaloid traction, and the resulting peripapillary vitreous traction may compromise vision.

RESUMO Este relato de caso apresenta um paciente feminino de 33 anos encaminhado para um serviço especializado de retina devido à leve perda de visão em olho direito. A acuidade visual foi de 20/25 no olho direito e 20/50 no olho esquerdo, o equivalente esférico foi de -12,75 dioptrias e -14,75 dioptrias, respectivamente. Avaliações multimodais revelaram isquese peripapilar nas camadas internas e externas da retina, descolamento vítreo posterior grau II e fundo tesselado. Avaliação funcional com perimetria Humphrey e microperimetria MP-3 revelaram sensibilidade macular normais e diminuição da sensibilidade na região peripapilar, especialmente no olho direito. Potencial visual evocado de padrão reverso apresentou no olho direito latência e amplitude N75 e P100 dentro dos valores normais para verificação de 1º. Entretanto, a amplitude foi baixa para a de 15′. Pacientes alto míopes com esfiloma posterior envolvendo o nervo óptico são suscetíveis à tração da hialoide posterior. Portanto a tração vitreopapilar resultante pode causar comprometimento da visão.

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Intraretinal or subretinal fluid in the peripapillary area can be clinically visualized in conditions such as peripapillary choroidal neovascularization, optic disc pit maculopathy, and optic nerve head tumors and granulomas. Optical coherence tomography (OCT) helps to visualize peripapillary fluid in many other chorioretinal conditions such as peripapillary pachychoroid syndrome, posterior uveitis, central retinal vein occlusion, malignant hypertension, hypotonic maculopathy as well as neuro-ophthalmological conditions such as glaucoma, microcystic macular edema and disc edema due papilledema, non-arteritic anterior ischemic optic neuropathy, neuroretinitis, and diabetic papillopathy. Often, the differential diagnosis of peripapillary fluid is a bit tricky and may lead to misdiagnosis and improper management. We describe a diagnostic algorithm for peripapillary fluid on OCT and outline the salient features and management of these conditions.

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RESUMO O glaucoma e a retinosquise juvenis são doenças raras isoladamente. Ocorrem bilateralmente com início precoce, resultando em grave perda visual. O glaucoma juvenil é descrito principalmente no sexo masculino, com pressão intraocular elevada, e a retinosquise juvenil é caracterizada por formação de cistos retinianos. Este caso relata um paciente do sexo masculino de 16 anos com perda visual progressiva que apresentou a associação de ambas as patologias, tratando-se este de um acometimento incomum e grave. Após diagnóstico e tratamento medicamentoso adequado, evoluiu com melhora do quadro, não necessitando de intervenção cirúrgica.

ABSTRACT Juvenile glaucoma and retinoschisis are rare diseases alone. They occur bilaterally with early onset, resulting in severe visual loss. Juvenile glaucoma is mainly described in males, with high intraocular pressure, and juvenile retinoschisis is characterized by the formation of retinal cysts. This case reports a 16-year-old male patient with progressive visual loss that presents an association of both pathologies, which is an uncommon and severe involvement. After adequate diagnosis and drug treatment, the condition improved and did not require surgical intervention.

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BACKGROUND: X-linked retinoschisis (XLRS) is a rare retinal dystrophy due to pathogenic variants in the RS1 gene. The hallmark of the disease is a foveal spoke-wheel appearance. The purpose of this report is to expand the phenotypic spectrum of XLRS reporting a patient with atypical phenotype of XLRS associated with Coats-like phenotype. MATERIALS AND METHODS: This is a case report of a patient diagnosed with XLRS who underwent ophthalmologic multimodal imaging and next-generation sequencing panel. RESULTS: The proband is a 14-year-old male patient who presented at Instituto Suel Abujamra with a history of Coats Disease in the right eye treated with retinal laser in both eyes two years ago. His best-corrected visual acuity was count finger at 1 foot in the right eye and 20/40 in the left eye. Fundus exam showed an extensive area of exudation and retinal detachment in the right eye and cystic change at the fovea in a spoke-wheel pattern in the left eye. The next-generation sequencing panel targeting inherited retinal diseases with 236 genes found a pathogenic hemizygous variant c.304C>T (p.Arg102Trp) in RS1 that has already been reported. CONCLUSIONS: The association of peripheral vascular incompetence and XLRS has already been described. Retinal exudation in the setting of XLRS is probably the result of vascular disruption and compromise. The loss of retinoschisin function that leads to foveal retinoschisis may also lead to vascular anomalies.

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La Retinosquisis ligada al X, que se presenta fundamentalmente en varones, es una enfermedad genética caracterizada por agudeza visual reducida debido a degeneración macular. Su prevalencia es de 1/5000 varones en todo el mundo. Se manifiesta desde la primera década de la vida con pérdida de la visión que progresa hasta la adolescencia y se mantiene estable hasta la 4ta década de la vida, momento en que presenta un declive importante. El fondo de ojo suele mostrar esquisis. Las mujeres portadoras rara vez presentan síntomas. El gen involucrado es RS1, codifica para Retinosquina, proteína que participa en la integridad estructural y funcional de la retina. El mismo presenta diferentes mutaciones que generan pérdida de función de la proteína. La sospecha diagnóstica se basa en la clínica y los antecedentes familiares, y se apoya en la paraclínica confirmándose en la mayoría de los casos mediante secuenciación del gen. El tratamiento consiste en control periódico oftalmológico y cirugía de las complicaciones. Presentamos el caso de un niño de 2 años con episodios reiterados de desprendimiento de retina, con antecedentes familiares de Retinosquisis por línea materna en individuos de sexo masculino. Estos fueron estudiados demostrándose que son portadores de la variante probablemente patogénica c.466A>C (Arg156Gly) en el gen RS1 la cual había sido reportada previamente en una familia de origen chino. Se demostró que nuestro paciente presenta la mutación familiar en hemicigosis, por lo que esta es la segunda familia en que se confirma la segregación de esta variante con Retinosquisis.

X-linked Retinoschisis is a genetic disease characterized by reduced visual acuity mainly in men due to juvenile macular degeneration. Its prevalence is 1/5000 men worldwide. It manifests from the first decade of life with loss of vision that progresses to adolescence and then remains stable until the 4th decade of life, when it may present a significant decline. The fundus exam usually shows schism. Carrier women rarely have symptoms. The gene involved is RS1 (Xp22.13), which encodes for Retinoschisin, a protein that participates in the structural and functional integrity of the retina. In affected cases, mutations that generate loss of protein function were demonstrated. The diagnosis is based on the clinical and family history, and is supported by ophthalmology evaluation; in most cases it can be confirmed by sequencing of the gene. The treatment consists of periodic ophthalmological control and surgery of the complications. We describe the case of a 2 year old boy with repeated episodes of retinal detachment and who has a family history of Retinoschisis by maternal line in male individuals. These were studied, and it was shown that they are carriers of the probably pathogenic variant c.466A> C (Arg156Gly) in the RS1 gene, which had been reported previously in a family of Chinese origin. It was shown that our patient presents the family mutation in hemizygous state, so this is the second family in which the segregation of this variant with Retinoschisis is confirmed.

A retinosquise ligada ao X, que ocorre principalmente em homens, é uma doença genética caracterizada pela redução da acuidade visual devido à degeneração macular. Sua prevalência é de 1/5000 homens em todo o mundo. Manifesta-se desde a primeira década de vida com perda da visão que progride até a adolescência e permanece estável até a 4ª década de vida, época em que apresenta declínio significativo. O fundo geralmente mostra esquise. Portadoras do sexo feminino raramente apresentam sintomas. O gene envolvido é o RS1, que codifica a Retinosquina, proteína que participa da integridade estrutural e funcional da retina. Apresenta diferentes mutações que geram perda de função da proteína. A suspeita diagnóstica baseia-se na história clínica e familiar, e na paraclínica, sendo confirmada na maioria dos casos pelo sequenciamento gênico. O tratamento consiste em acompanhamento oftalmológico periódico e cirurgia para complicações. Apresentamos o caso de um menino de 2 anos com episódios repetidos de descolamento de retina, com história familiar de retinosquise materna no sexo masculino. Estes foram estudados mostrando que são portadores da variante provavelmente patogênica c.466A> C (Arg156Gly) no gene RS1, que havia sido relatado anteriormente em uma família de origem chinesa. Foi demonstrado que nosso paciente apresenta a mutação familiar em hemizigose, sendo esta a segunda família em que se confirma a segregação desta variante com Retinosquise.

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PURPOSE: To present a case of stellate nonhereditary idiopathic foveomacular retinoschisis (SNIFR) resolution associated with vitreomacular adherence (VMA) release and propose a potential contributing association between SNIFR and vitreomacular interactions. OBSERVATIONS: A 67-year-old female patient was diagnosed and followed for SNIFR in OD with spectral-domain optical coherence tomography (SD-OCT) scans at presentation and subsequent visits at 3, 6, 16 and 22 months. VMA and foveomacular retinoschisis remained unchanged on SD-OCT during the first 6 months of the follow-up. At 16-month follow-up visit, SD-OCT revealed VMA release and an important improvement of the macular schisis. At 22 months of follow-up, SNIFR cavities completely resolved in the presence of posterior hyaloid separation from the macular area without any adjunct treatment. The authors could not identify any other possible cause to justify the resolution of SNIFR other than VMA release in this case. Patient did not undergo any treatment for OD other than phacoemulsification 3 months after initial visit. CONCLUSION: The present case illustrates with SD-OCT scans a possible association between SNIFR resolution and VMA release, highlighting a potential tractional component of the posterior vitreous on the internal limiting membrane and consequent glial cells stretching with schisis formation.

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ABSTRACT X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of life and complications like retinal detachment and vitreous hemorrhage. Herein, we present late ophthalmology findings in a XLRS patient.

RESUMO A retinosquise juvenil ligada ao cromossomo X (XLRS) é uma degeneração vitreorretiniana causada por mutações no gene RS1, geralmente caracterizada por maculopatia bilateral e retinosquise periférica, levando à perda visual progressiva durante as primeiras 2 décadas de vida e complicações como descolamento de retina e hemorragia vítrea. Apresentamos aqui achados oftalmológicos tardios em um paciente com XLRS.

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BACKGROUND: To report and describe an unusual case of a patient with optic disc pit in one eye and optic disc coloboma with a focal pit associated with macular retinoschisis in the other eye. CASE PRESENTATION: A 21-year-old woman presented with optic disc pit in the right eye and optic disc coloboma with a focal pit like excavation in the left eye. Macular spectral domain optical coherence tomography (SD-OCT) of the left eye revealed macular retinoschisis, without serous detachment. CONCLUSIONS: Proper monitoring of patients with disc anomalies associated with maculopathy is mandatory. The use of OCT imaging during follow-up can help to identify involvement of the fovea or enlargement of the retinoschisis area.

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Resumo Relato de caso de um paciente de 46 anos com glaucoma juvenil de controle clínico insatisfatório, portador de retinosquise peripapilar que, após ser submetido à esclerectomia profunda não penetrante, evoluiu com descolamento seroso da retina neuro-sensorial. A associação entre retinosquise peripapilar e o descolamento seroso pós cirurgia filtrante é de ocorrência rara, tendo sido descrito apenas um caso na literatura. A partir deste relato temos por objetivo, além de enfatizar a raridade da associação, mostrar a importância de investigar retinosquise peripapilar em pacientes glaucomatosos, em especial se associada a camada de fibras nervosas, e a importância da explanação adequada aos pacientes de um possível descolamento seroso de retina no pós-operatório de cirurgia filtrante.

Abstract Case report of a 46-year-old patient with unsatisfactory clinical controlled juvenile glaucoma and peripapillary retinoschisis who, after being submitted to non-penetrating deep sclerectomy, evolved with serous detachment of the neurosensory retina. The association between peripapillary retinoschisis and serous detachment after filtering surgery is rare and only one case has been described in the literature. The purpose of this report is, besides to emphasize the rarity of the association, to show the importance of investigating peripapillary retinoschisis in glaucomatous patients, especially if associated with retinal nerve fiber layer, and the importance of adequate explanation to patients of possible serous detachment of retina in the postoperative of filtering surgery.

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Abstract The diagnosis of macular retinoschisis is often complex and demands complementary exams to be confirmed. This is the report of a case of a 27 years old man diagnosed with macular retinoschisis, in which En face OCT and OCT angiography were used to identify and demonstrate the typical patterns of the disease, as well as distinguish them from the findings of cystoid macular edema.

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Abstract Congenital retinoschisis is an X-linked recessive inherited disease. It causes the splitting of the retina's neurosensory layers from the remaining of the sensory retina, presenting itself as a "stellate" or "bicycle-wheel" maculopathy, vitreous hemorrhage and retinal detachment. We report three cases of congenital retinoschisis, two of them brothers. optical coherence tomography was used when evaluating the cases. It was impossible to differentiate retinoschisis from retinal detachment in one of the cases through optical coherence tomography due to lack of patient collaboration. We then performed laser photocoagulation to mark and follow-up the affected area.

Resumo A retinosquise congênita é uma doença autossômica recessiva ligada ao X. Resulta em separação da camada de fibras nervosas do restante da retina sensorial, e manifesta-se como maculopatia estriada, hemorragias vítreas e descolamento de retina. Relatamos três casos de retinosquise congênita, sendo dois deles irmãos. Utilizou-se a tomografia de coerência óptica na avaliação dos casos. Em um, não foi possível efetuar o diagnóstico diferencial com descolamento de retina através da tomografia de coerência óptica, devido a não cooperação no exame, optando-se pela realização de fotocoagulação com laser para demarcação e seguimento da área.

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Relatar o caso de um paciente masculino de 28 anos que foi encaminhado ao Centro de Estudos e Pesquisas Oculistas Associados (RJ) para avaliação de retina e apresentou os achados típicos de retinosquise juvenil ligada ao cromossomo X: maculopatia cistóide com formação de cistos na fóvea e retinosquise periférica. Foi realizado o manejo conservador, com atenção para as complicações.

Report the case of a male 28 years-old patient, who was referred to Centro de Estudos e Pesquisas Oculistas Associados – RJ, to retina assessment and presented the tipical findings of the X-Linked Juvenile Retinoschisis: A cystoid maculopathy with formation of foveal cysts and schisis of the peripheral retina. It was carried out the conservative management, with attention to the complications.

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Retinoschisis is an abnormal separation of the retinal layers and is asymptomatic in most cases. Enlargement of the area of retinoschisis and retinal tear and detachment are possible complications of the disease, and the treatment of retinoschisis is controversial. In this case report, we present a case of retinal detachment associated with senile retinoschisis in which pneumatic retinopexy was chosen as the treatment of choice and was performed successfully in one of the eyes. After a literature review on retinoschisis and pneumatic retinopexy for the treatment of associated retinal detachment, we found only one case that was successfully treated without drainage of subretinal fluid, using air as the filler. However, no previous reports have been found in the literature on the effectiveness of pneumatic retinopexy using C3F8 as the sole treatment for progressive retinal detachment in senile retinoschisis.

Retinosquise significa uma separação anormal das camadas da retina e, na maioria dos casos, é assintomática. Aumento da área de retinosquise, roturas e descolamento de retina são possíveis complicações da doença, sendo seus tratamentos controversos. Nesse relato, apresentamos um caso de descolamento de retina associado à retinosquise senil em que foi optado pela retinopexia pneumática como primeiro tratamento, com sucesso em um dos olhos tratados. Revisada literatura sobre retinosquises e retinopexia pneumática para tratamento de descolamento de retina associado, foi encontrado apenas um caso tratado com sucesso, sem drenagem de líquido sub-retiniano, utilizando-se ar como agente tamponante. Não existem relatos na literatura de retinopexia pneumática efetiva utilizando C3F8 como tratamento único para descolamento de retina progressivo na retinosquise senil.

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We report a case of a 66-year-old man with a history of high myopia and who was referred for acute decreased visual acuity of the right eye. Fundus examination and optical coherence tomography (OCT) showed a mild epiretinal membrane (ERM) and splitting of retinal layers. Pars plana vitrectomy was performed with intravitreous triamcinolone injection, posterior hyaloid and ERM peeling, and 12% perfluoropropane (C3F8) gas tamponade. After remaining asymptomatic for 17 months, the patient reported a new episode of sudden decreased visual acuity in his right eye, and OCT showed recurrent myopic foveoschisis (MF). He underwent vitrectomy and internal limiting membrane (ILM) peeling. Six months later, the patient’s best corrected visual acuity had improved to 20/25. Optical coherence tomography showed a remarkably improved macular anatomy, with residual traction along the inferotemporal arcade, which was attributed to the vessel stiffness itself. We conclude that removing the internal limiting membrane is a challenging maneuver in myopic foveoschisis, even with staining approaches. Although myopic foveoschisis may be resolved without peeling the internal limiting membrane, its removal should be considered if the condition recurs.

Relatamos caso de um homem de 66 anos, com antecedente de alta miopia, que referiu baixa de acuidade visual aguda no olho direito. O mapeamento de retina e o exame de tomografia de coerência óptica (OCT) mostraram discreta membrana epirretiniana (ERM) e isquise retiniana. Foi realizada vitrectomia via pars plana com injeção intravítrea de triancinolona, retirada da hialóide posterior, peeling da membrana epirretiniana e tamponamento com gás perfluorpropano (C3F8) a 12%. O paciente permaneceu assintomático por 17 meses, quando queixou-se de novo episódio de baixa de acuidade visual súbita no olho direito e o tomografia de coerência óptica mostrou recorrência da isquise miópica. Ele foi submetido a nova vitrectomia com peeling da membrana limitante interna (ILM). Após 6 meses, a acuidade visual corrigida era de 20/25. A tomografia de coerência óptica mostrou melhora importante da anatomia macular, com área de tração residual observada na arcada inferotemporal, que foi atribuída à rigidez do próprio vaso. A retirada da membrana limitante interna é uma manobra desafiadora em olhos alto míopes, mesmo estando corada. A resolução da isquise miópica pode ser atingida sem o peeling da membrana limitante interna, mas sua remoção deve ser considerada em casos de recorrência.

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Retinosquise traduz a separação anômala das camadas retinianas, podendo ser congênita, adquirida ou secundária a situações como a miopia, trauma e vasculopatias. Reúne-se as principais características clínicas, recentes opções diagnósticas e as formas de manejo dos quadros ligados ao cromossoma X e aos adquiridos.

Retinoschisis means abnormal separation of the retinal layers, which could be congenital, acquired or secondary to myopia, trauma or other vascular disorders. We review the clinical features of the x-linked and acquired diseases, and its recent diagnostic tools and the differents options for repair.

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A retinosquise juvenil ligada ao cromossomo X é uma degeneração vítreorretiniana hereditária e recessiva. Sua manifestação ocular é a maculopatia cística bilateral e a delaminação das camadas de fibras nervosas da retina. Nenhuma intervenção terapêutica se mostrou eficiente para estabilizar a acuidade visual nestes pacientes. O artigo relata o caso clínico de um paciente portador de retinosquise juvenil ligada ao cromossomo X, que foi tratado com o uso tópico da dorzolamida, um colírio inibidor da anidrase carbônica.

X-linked juvenile retinoschisis is a hereditary and recessive vitreous-retinal disease. The main ophthamic manifestation is the bilateral macular cystic-like stellate maculopathy and splitting of the retina between the nerve fiber and ganglion cell layers. There were no treatments with efficacy in order to estabilize the visual acuity in the affected patients. This article presents a clinical case of a patient with a bilateral X- linked juvenil retinoschisis who was treated by the use of topical dorzolamide, a carbonic anhydrase inhibitor.

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Apresentação de caso clínico de paciente de 30 anos com quadro de baixa acuidade visual progressiva há 8 anos, sem diagnóstico conclusivo. Após exame oftalmológico completo, realizado na unidade de urgência oftalmológica da Clínica de Olhos da Santa Casa de Belo Horizonte, foi observado alteração macular em ambos os olhos com aspecto cistóide "em roda de carroça". A ausência de extravasamentos de contraste à angiofluoresceinografia e a presença de cistos e aumento da espessura foveal demonstrados pela tomografia de coerência óptica sugeriram tratar-se de retinosquise juvenil que pôde ser confirmada com o eletrorretinograma.

We report a 30-year-old patient presenting a non-conclusive diagnosis of low progressive visual acuity for 8 years. A cystoid maculopathy (stellate striation) was observed in both eyes after a complete ophthalmologic examination performed in the emergency ward at the Clínica de Olhos da Sanata Casa de Belo Horizonte. The absence of contrast leakage in the foveal region identified by fluorescein angiography and the presence of cysts and increase of foveal thickness in optical coherence tomography suggested juvenile retinoschisis which could be confirmed through electroretinogram.

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X-linked juvenile retinoschisis (XLRS) is a recessively inherited vitreoretinal degeneration characterized by macular pathology and splitting of the neuroretinal layers that is associated with alterations in the XLRS1 gene. There have been no therapeutic interventions known to be effective for patients with X-linked juvenile retinoschisis, but some studies are trying to determine the importance of dorzolamide for the treatment of foveal lesions in this disease. The authors, using optical coherence tomography, describe findings in a patient with X-linked juvenile retinoschisis, before and after a topical use of dorzolamide. Besides the improvement in his visual acuity, further studies are required to elucidate the real prevalence of nonresponse to dorzolamide and the frequency with which there may be a recurrence of foveal cystic changes during continued treatment.

A retinosquise juvenil ligada ao X (XLRS) é uma degeneração vítreo-retiniana hereditária e recessiva caracterizada por lesão macular e delaminação das camadas de fibras nervosas da retina, que está associada com alterações no gene XLRS1. Nenhuma intervenção terapêutica tem se mostrado efetiva em pacientes com retinosquise juvenil ligada ao X, mas alguns estudos estão tentando determinar a importância da dorzola mida no tratamento das lesões foveais desta doença. Os autores, usando a tomografia de coerência óptica, descrevem os achados em um paciente com retinosquise juvenil ligada ao X, antes e após o uso de dorzolamida tópica. Apesar da melhora na acuidade visual do paciente estudado, outros estudos são necessários para uma melhor elucidação da real prevalência dos pacientes não responsivos ao tratamento com dorzolamida, bem com a recorrência das lesões císticas a longo prazo.

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