Analysis of RS1 gene variant in a Chinese pedigree affected with X-linked congenital retinal splitters / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with X-linked retinoschisis.@*METHODS@#Clinical data of the pedigree was collected. Following DNA extraction, PCR and Sanger sequencing were carried out to detect potential variant in the RS1 gene. The result was verified by using PCR and restriction fragment length polymorphism assay.@*RESULTS@#All male patients were found to harbor a c.458T>G (p.Val153Gly) variant of the RS1 gene, for which Their mothers were heterozygous carriers. The same variant was not detected among unaffected members of the pedigree as well as 100 healthy controls. Bioinformatic analysis suggested the variant to be pathogenic.@*CONCLUSION@#The c.458T>G (p.Val153Gly) variant of the RS1 gene probably underlay the X-linked retinoschisis in this pedigree.

Retinosquisis ligada al cromosoma X: presentación de un caso clínico y análisis del diagnóstico genético / X-linked Retinoschisis: a case report and genetic diagnosis analysis / Retinosquise ligada ao X: a presentação de um caso clínico e análise do diagnóstico genético

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.

Late ophthalmology findings in a X-linked juvenile retinoschisis patient / Achados oftalmológicos tardios em um paciente portador de retinosquise juvenil ligada ao cromossomo X

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.

Long-term Outcomes of Vitrectomy Used to Treat Myopic Traction Maculopathy

PURPOSE: We investigated the long-term outcomes of vitrectomy with internal limiting membrane (ILM) peeling as treatment for myopic traction maculopathy (MTM).METHODS: The medical records of patients who underwent vitrectomy to treat MTM were retrospectively evaluated. We excluded patients who exhibited macular holes (MHs) or retinal detachment at the time of primary surgery. The best-corrected visual acuity (BCVA) and central foveal thickness (CFT) were analyzed preoperatively, at 3, 6, 12, and 24 months after surgery, and at the final visit. Complications including retinal detachment or an MH were noted during follow-up.RESULTS: Twenty-three eyes of 22 patients were enrolled. At the time of primary surgery, the mean patient age was 64.4 ± 11.1 years and the baseline mean logMAR BCVA and CFT, 0.67 ± 0.50 and 431.8 ± 159.5 µm, respectively. The mean follow-up period was 53.7 ± 19.3 months. The mean logMAR BCVAs at 3, 6, 12, and 24 months postoperatively and at the final visit were 0.42 ± 0.39 (p = 0.001), 0.41 ± 0.38 (p = 0.001), 0.39 ± 0.40 (p < 0.001), 0.42 ± 0.43 (p < 0.001), and 0.51 ± 0.47 (p = 0.016), respectively, thus significantly better than the baseline value. The mean CFT at 3, 6, 12, and 24 months postoperatively and at the final visit were 244.6 ± 72.3, 210.5 ± 79.1, 209.6 ± 91.6, 219.8 ± 93.9, and 217.7 ± 81.3 µm, respectively, thus significantly less than baseline (all p < 0.001). MTM resolved in 18 eyes (78.3%) after primary surgery, without any complication, and remained stable to the final visit.CONCLUSIONS: Vitrectomy with ILM peeling afforded favorable long-term efficacy and safety in MTM patients.

Foveosquisis miópica asociada al Síndrome de Straatsma / Myopic foveoschisis associated with Straatsma's syndrome

RESUMEN Este reporte describe la presentación concomitante de foveosquisis miópica y fibras de mielina en una paciente con miopía elevada. La primera puede ser un hallazgo incidental, pero no infrecuente en pacientes con miopía elevada, y causa pérdida visual central severa. La segunda es infrecuente, y en casos muy raros se presenta asociada a miopía ipsilateral y estrabismo. Ambas entidades deben incluirse en el diagnóstico diferencial de un paciente alto miope con disminución de la visión central. La tomografía de coherencia óptica es el medio auxiliar de elección(AU)

ABSTRACT This case report describes the concomitant presentation of myopic foveoschisis and myelinated retinal nerve fibers in a patient with elevated myopia. The myopic foveoschisis may be an incidental but not uncommon finding in highly myopic eyes, leading to severe central vision loss. Myelinated retinal nerve fibers are infrequent and in rarely cases they are associated with ipsilateral myopia and strabismus. Both entities should be including as differential diagnosis of central vision loss in high myopia, and optic coherence tomography is the leading as auxiliary test(AU)

A Novel Pathogenic RS1 Variant (c.362delA) in a Korean Patient With Late-onset X-linked Retinoschisis

No abstract available.

Long-term Clinical Outcome of Vitrectomy for the Treatment of Optic Disc Pit Maculopathy

PURPOSE: To evaluate the long-term outcomes of optic disc pit maculopathy after vitrectomy. METHODS: We evaluated retrospectively the medical records of eight patients with macular retinal detachment or retinoschisis who underwent vitrectomy due to optic disc pit maculopathy. The best-corrected visual acuity and optical coherence tomography findings were analyzed after surgery. RESULTS: Eight eyes of eight patients (two male and six female) were enrolled. The mean best-corrected visual acuity was 0.76 log MAR, the mean age was 42.8, and the mean follow-up period was 56 months (range: 8–120 months). At baseline, retinoschisis was observed in all eight eyes. Six eyes had serous retinal detachment of the macula. Vitrectomy for a complete posterior vitreous detachment was performed. Additional internal limiting membrane peeling and tamponade were performed in six and four eyes, respectively. After surgery, serous retinal detachment was gone in all eyes (100%) at a mean of 22.8 months (range: 18 days–60 months). Three of eight eyes (37.5%) showed the disappearance of retinoschisis at a mean of 6.8 months (range: 1.7–21 months), but the remaining patients still had retinoschisis at the final visit. Ocular complications were full-thickness macular hole and iatrogenic retinal detachment in each case. The final corrected visual acuity improved to 0.29 logMAR. CONCLUSIONS: Vitrectomy is an effective treatment for patients with optic disc pit maculopathy. It achieved anatomical and visual improvements over a long period of time. However, retinoschisis due to inner retinal fluid remained in many patients.

Central Serous Chorioretinopathy with Peripapillary Retinoschisis

PURPOSE: To report a case of central serous chorioretinopathy with peripapillary retinoschisis. CASE SUMMARY: A 64-year-old male presented with abnormal color vision of the left eye, which occurred 6 months prior to his visit. At the initial visit, a funduscopic examination revealed retinal elevation with suspected serous retinal detachment around the optic disc in the left eye. Spectral domain optical coherence tomography showed subretinal fluid on the nasal side of the optic disc and retinoschisis on the temporal side of the optic disc in the left eye. Fluorescein angiography revealed multiple leakages in the left eye. Indocyanine green angiography revealed choroidal vascular hyperpermeability in both eyes. Based on these results, the patient was diagnosed with chronic central serous chorioretinopathy and was treated with argon laser photocoagulation at the leakage points. After 8 weeks of laser therapy, optical coherence tomography indicated that there was no retinoschisis or subretinal fluid in the macula, nasal, or temporal sides of the optic disc. CONCLUSIONS: Peripapillary retinoschisis due to central serous chorioretinopathy improves with argon laser photocoagulation at leakage sites.

Visual and Structural Differences in Idiopathic Epiretinal Membrane According to the Presence of Retinoschisis

PURPOSE: To present differences in visual acuity and macular structure before and after surgery in patients with idiopathic epiretinal membrane (ERM) according to the presence of retinoschisis. METHODS: This retrospective observational study included 324 eyes with idiopathic ERM, that underwent pars plana vitrectomy with ERM and internal limiting membrane peeling, and were followed for more than 6 months. Subjects were classified into two groups according to the presence of retinoschisis using preoperative optical coherence tomography (OCT; group 1, ERM with retinoschisis; group 2, ERM without retinoschisis). Preoperative and postoperative macular structure changes and surgical outcomes were compared. RESULTS: Group 1 included 61 eyes, and group 2 included 263 eyes. Group 1 had a significantly higher preoperative and final postoperative best-corrected visual acuity compared with group 2 (p = 0.01, p = 0.02). Preoperative disorganization of retinal inner layers (DRIL) was significantly less in group 1 than group 2 (p = 0.01). Preoperative central macular thickness was not significantly different between the two groups. However, postoperative central macular thickness was significantly lower in group 1 than group 2 (p = 0.02, p = 0.01, p < 0.01). The ratio of the inner or outer layer in the total retinal thickness before surgery was significantly smaller in group 1 than in group 2 (p = 0.02, p = 0.04). CONCLUSIONS: Preoperative visual acuity was better and the occurrence of DRIL was less in idiopathic ERM with retinoschisis than without retinoschisis. Postoperative visual and structural outcome was better in idiopathic ERM with retinoschisis than without retinoschisis. Retinoschisis may have played a role in reducing the tractional force given to the inner and outer retina.

Retinosquise peripapilar e descolamento seroso de retina neuro-sensorial após esclerectomia profunda não penetrante / Peripapillary retinoschisis and serous detachment of neurosensory retina after a non-penetrating deep sclerectomy

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.

A novel mutation in XLRS1 gene in X-linked juvenile retinoschisis

X-linked juvenile retinoschisis (XLRS) is characterized by the progressive loss of visual acuity and vitreous hemorrhage. XLRS is caused by a mutation of retinoschisin 1 (RS1) gene at Xp22.13. In the current report, a 2-year-old Korean patient with XLRS was described. The germline deletion of exon 1 was identified in the RS1 gene. Considering X-linked inheritance pattern, validation of a carrier state of a patient's mother is important for the genetic counseling of other family members and for the future reproductive plan. To confirm the carrier state of his mother, the multiplex ligation-dependent probe amplification analysis was done using peripheral leukocytes and found the heterozygous deletion of exon 1 in his mother.

En face and OCT angiography findings in macular retinoschisis

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.

Optical coherence tomography and congenital retinoschisis: three case reports / Tomografia de coerência óptica e retinosquise congênita: relato de três casos

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.

Retinosquise juvenil ligada ao X / X-linked juvenile retinoschisis

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.

Case report: pneumatic retinopexy for the treatment of progressive retinal detachment in senile retinoschisis / Relato de caso: retinopexia pneumática no tratamento do descolamento de retina associado à retinosquise senil

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.

Peripapillary Retinoschisis in Non-Glaucomatous Eyes

PURPOSE: To investigate the characteristics of non-glaucomatous eyes with peripapillary retinoschisis. METHODS: Six non-glaucomatous eyes with peripapillary retinoschisis were enrolled. Age, sex, refractive error, intraocular pressure, location and changes of peripapillary retinoschisis, and the presence of accompanied abnormalities were assessed. To determine possible abnormalities of the optic nerve head and macula, fundus photographs and cross-sectional images of the optic nerve head and macula obtained by optical coherence tomography were inspected. RESULTS: Three males and 3 females were enrolled. Age of the subjects ranged from 11 to 59 years (median, 45 years). Refractive error ranged from -6.25 to +1.00 diopter (median, -0.50 diopter). Peripapillary retinoschisis was located in the superior quadrant in four eyes, in the nasal quadrant in one eye, and in the inferior quadrant in one eye, respectively. No additional abnormalities were found in fundus photographs or in the cross-sectional images of the optic nerve head and macula that were obtained by optical coherence tomography. Longitudinal follow-up was available for two eyes and spontaneous resolution of peripapillary retinoschisis was observed in these eyes 6 and 9 months later, respectively. CONCLUSIONS: Peripapillary retinoschisis was observed in non-glaucomatous eyes. This finding was observed in subjects of various ranges of age and refractive error, and in both sexes, without any other accompanying abnormalities.

Retinoschisis and intravitreal ranibizumab treatment for myopic choroidal neovascularization / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Intravitreal ranibizumab injection is effecitve on treating myopic CNVs, but it could be a risk factor for developing more severe retinoschisis in eyes with preexisted retinoschisis and epiretinal membrane. This study aimed to explore the incidence and features of retinoschisis after intravitreal ranibizumab injection for myopic choroidal neovascularization.</p><p><b>METHODS</b>Eighty-three eyes of 81 patients with choroidal neovascularization secondary to pathologic myopia were treated with intravitreal ranibizumab injection. The best corrected visual acuity and optical coherence tomography (OCT) images were recorded at baseline and every month thereafter. Central retina thickness and maximal retina thickness were measured. The subjects were divided into three groups. Eleven eyes that had retinoschisis and epiretinal membrane were in group 1, six eyes that had simple epiretinal membrane were in group 2, and 66 eyes that had neither retinoschisis nor epiretinal membrane were in group 3. Six contralateral eyes in group 1 which had retinoschisis and epiretinal membrane but were not treated with intravitreal ranibizumab injection were set as the control group.</p><p><b>RESULTS</b>Seven of the 11 eyes in group 1 developed more severe retinoschisis, the mean maximal retinal thickness increased from (380.28 ± 90.13) to (467.00 ± 70.20) µm (P < 0.05). The retinoschisis of all 6 eyes of the control group did not aggravate. Compared with the control group, the aggravation ratio of retinoschisis increased significantly (P < 0.05). No new onset of retinoschisis took place in group 2 and group 3.</p><p><b>CONCLUSION</b>Intravitreal ranibizumab injection may be a risk factor for aggravation of retinoschisis in eyes with preexisted retinoschisis and epiretinal membrane.</p>

A Case of Serous Macular Detachment Preceding Macular Retinoschisis in an Optic Pit

PURPOSE: To report a case of serous macular detachment preceding macular retinoschisis in an optic pit patient successfully treated by vitrectomy with internal limiting membrane peeling. CASE SUMMARY: A 76 year old female visited our clinic for visual disturbance in her right eye. Fundus photograph revealed optic pit and OCT showed macular retinoschisis in her right eye. She was followed up in our clinic. The patient revisited our clinic because of sudden decrease of visual acuity in her right eye 3 days before. At that time, the patient's best-corrected visual acuity was 0.05. Macular retinoschisis, subretinal fluid and serous retinal detachment were observed in her right eye on OCT. She was diagnosed with serous retinal detachment associated with optic pit and pars plana vitrectomy was performed. During vitrectomy, we found adhesion and defect of posterior hyaloid membrane which covered the optic pit. Therefore, subretinal fluid was drained via membrane defect and posterior vitreous detachment and fluid-gas exchange were induced. Sixteen days after surgery, we found a macular hole in her right eye on OCT. Pars plana vitrectomy was performed with internal limiting membrane peeling. One month after surgery, macular detachment was not observed. Six months after surgery, the patient's best corrected visual acuity was 0.63 and the macula was reattached completely. CONCLUSIONS: Optic pit maculopathy can be progressed rapidly in aged patients and macular hole would be ocurred as a complication. Additional study will be needed to figure out the role of internal limiting membrane and tractional force of posterior vitreous in these patients.

A Case of Intravitreal Bevacizumab Injection for the Treatment of Choroidal Neovascularization in Morning Glory Syndrome

PURPOSE: We report a case of intravitreal bevacizumab injection for the treatment of choroidal neovascularization in morning glory syndrome. CASE SUMMARY: A 51-year-old male visited our hospital for a 1.5-year visual disturbance in his right eye. The patient's best-corrected visual acuity was 0.1 in the right eye. After fundus examination, we found characteristic findings of morning glory syndrome with submacular hemorrhage and serous retinal detachment in the right eye. Optical coherence tomography, fluorescein angiography and indocyanine green angiography were performed for evaluation. Retinoschisis, subretinal fluid, and choroidal neovascularization were detected, and thus bevacizumab was injected in the right eye. After intravitreal bevacizumab injection, retinoschisis was improved, and subretinal fluid was decreased. However, retinal pigment epithelial detachment was newly detected, and serous retinal detachment persisted. After 2 months, a second bevacizumab injection was performed. After these intravitreal bevacizumab injections at 1 and 2 months, visual acuity was 0.4 and 0.6, respectively. Visual acuity improved to 1.0 after 3 months. Visual acuity was maintained for at least 6 months with no relapse of choroidal neovascularization. CONCLUSIONS: The choroidal neovascularization in morning glory syndrome was effectively treated with intravitreal bevacizumab injections.

Three Cases of Focal Choroidal Excavation in the Macula Detected by Spectral-Domain Optical Coherence Tomography

PURPOSE: To report the clinical finding of 3 patients with focal choroidal excavation in the macula detected by spectral-domain optical coherence tomography (SD-OCT). CASE SUMMARY: Five eyes of 3 patients with focal choroidal excavation detected by SD-OCT were enrolled in the present study. All patients had myopia (average refractive power -5.60 diopter). Two of the 3 patients had focal choroidal excavation in both eyes. All 5 eyes revealed foveal pigmentary changes on fundus examination. The excavation area in the autofluorescence image was hypofluorescent. Fluorescein angiographic finding was normal to various degrees of hyperfluoresence. Indocyanine green angiography revealed hypofluoresence at the excavation area. The excavation involoved from the retinal pigment epithelium layer to the external limiting membrane or outer nuclear layer and average choroidal thickness at excavation were statistically thinner than the uninvolved area based on SD-OCT (p = 0.002). Retinoschisis, serous pigment epithelial detachment and choroidal neovascularziation (CNV) were detected individually in 3 eyes. The other 2 eyes had no specific abnormalities. CONCLUSIONS: During the follow-up period, the choroidal excavation remained relatively stable in 4 of 5 eyes, but CNV developed in 1 eye. Therefore, intravitreal bevacizumab injection was performed. Longer follow-up periods are necessary to determine the etiology, clinical course and visual prognosis of eyes with focal choroidal excavation.