Visual functions and multimodal imaging of patients with idiopathic focal choroidal excavation.

This study aimed to evaluate visual function and perform multimodal imaging on patients with focal choroidal excavation without any chorioretinal disease (idiopathic focal choroidal excavation [iFCE]). Seventeen eyes of 15 patients with iFCE (8 men, 7 women; mean ± standard deviation age, 56.0 ± 10.8 years) were assessed for visual function including visual acuity, metamorphopsia, aniseikonia, and retinal sensitivity. Multimodal imaging included optical coherence tomography (OCT), fundus autofluorescence (FAF), and OCT angiography. This study found that the maximum width and depth of the excavation were 597 ± 330 (238-1809) µm and 123 ± 45 (66-231) µm, respectively, and that FAF showed normal or hypoautofluorescence corresponding to iFCE. The fundus examination findings were stable during the follow-up period (96 ± 48 months). None of the eyes showed any abnormalities in central retinal sensitivity or aniseikonia. Metamorphopsia was detected using Amsler grid testing and M-CHARTS in two eyes. Therefore, this study is the first to quantitatively and qualitatively study metamorphopsia of patients with iFCE. Our results showed that most patients with iFCE did not have visual impairments, despite the presence of morphological changes in the outer retina and choroid.

Long-term follow-up demonstrates change in conformation shape of the focal choroidal excavation lesions.

PURPOSE: This study aims to present long-term observation of 5 eyes with focal choroidal excavation (FCE), focusing on morphological changes in conformity of the lesion. METHODS: A retrospective case series was conducted, including 5 eyes of 5 patients with FCE. The study utilized multimodal imaging including color fundus photography, optical coherence tomography (OCT), enhanced depth imaging OCT (EDI-OCT), fundus fluorescein angiography (FFA), fundus autofluorescence (FAF), red free imaging, and OCT angiography. RESULTS: The mean age at diagnosis was 51 ± 10.65 years, with a mean follow-up period 37 ± 13.59 months. All cases were unilateral, with 1 presenting FCE as an isolated lesion, and one patient exhibiting 2 FCEs in one eye. The mean choroidal thickness measured by EDI-OCT was 268.2 ± 63.39 µm in the affected eye. One patient displayed choroidal thickening and pachyvessels. Of the 5 eyes, one had conforming and 4 non-conforming FCE. We observed a conversion in conformity in all patients, with 4 cases transitioning from non-conforming FCE to conforming type (3 spontaneously, 1 treatment-induced). In conforming FCE, a hyporeflective space appeared twice between neuroretina and retinal pigment epithelium with spontaneous regression. CONCLUSION: We observed change in shape from the conforming to non-conforming FCE and vice versa in all patients. We consider this small change in the hyporeflective space as non-pathologic and clinically insignificant.

Macular atrophy and focal choroidal excavation in a patient with JAG1- related alagille syndrome.

INTRODUCTION: Alagille syndrome (AGS) is a genetic disease with multisystemic affection, including ocular manifestations. Recently, a high frequency of posterior segment findings, including macular changes, has been reported. This publication aims to report an unusual finding of macular atrophy and a focal choroidal excavation in a patient with JAG1 related AGS. METHODS: Case report. RESULTS: This publication describes an atypical presentation of focal choroidal excavation (FCE) and unilateral macular atrophy in a 7-year-old male with Alagille syndrome (AGS). Genetic analysis revealed a pathogenic variant in the JAG1 gene. Ophthalmological examination and imaging findings demonstrated characteristic ocular manifestations of AGS, including posterior embryotoxon, chorioretinal atrophy, and thinning of the choroid. CONCLUSION: The presence of FCE in AGS is uncommon, and the underlying mechanisms remain unclear. Further exploration of similar cases is necessary to better understand the evolution and visual prognosis in patients with AGS and FCE.

This case report highlights the presence of focal choroidal excavation and unilateral macular atrophy in a patient with Alagille syndrome. The genetic analysis identified a pathogenic variant in the JAG1 gene.

The multimodal imaging features and outcomes of multifocal choroiditis/punctate inner choroidopathy lesion with multiple evanescent white dot syndrome-like features: a retrospective study.

BACKGROUND: Multiple evanescent white dot syndrome (MEWDS)-like features is a rare condition triggered by a macular disease or iatrogenic injury, exhibiting MEWDS changes in the fundus. This study aims to describe the multimodal imaging features and outcomes of multifocal choroiditis/punctate inner choroidopathy (MFC/PIC) lesions with MEWDS-like features. METHODS: Six cases were studied retrospectively. All cases were given regional and oral corticosteroids. RESULTS: All cases showed an isolated juxtafoveal yellowish-white MFC/PIC lesion with disruption of RPE-Bruch's membrane-choriocapillaris complex (RPE-BM-CC), subretinal hyperreflective materials and choroidal thickening on optical coherence tomography. Two weeks after presentation, the grayish-white dots disappeared spontaneously and the corticosteroids were given. After four weeks, the ellipsoid zone (EZ) around the lesion and hyper-autofluorescence resolved. After 13 weeks, five cases showed shrinkage of the juxtafoveal lesion and restoration of foveal EZ. After six months, the juxtafoveal lesion became pigmented. Only one case developed type 2 choroidal neovascularization. CONCLUSIONS: The clinical course of MEWDS-like manifestations is still evanescent in our cases. The yellowish-white juxtafoveal MFC/PIC lesions with disruption of RPE-BM-CC and choroidal thickening showed a well-controlled prognosis after corticosteroid treatment.

Multimodal imaging of focal choroidal excavation and macular choroidal cavitation associated to choroidal neovascularization.

Purpose: To report multimodal imaging features of an unusual case of multiple focal choroidal excavations (FCE) associated to macular intrachoroidal cavitations (ICC) and choroidal neovascularization (CNV) in a non-myopic patient with normal choroidal thickness. Methods: Observational case report. Results: A 69-year-old non-myopic male patient with history of macular CNV of unknown etiology in the right eye (RE), initially treated with Bevacizumab intravitreal injections with significant improvement of visual acuity. He presented with acute vision loss in the same eye related to recurrent CNV exudation. Multimodal imaging of the RE confirmed the diagnosis of active type 2 CNV, associated to multiple FCE. Besides, it highlighted incidental unusual macular ICC in the same eye. Choroidal thickness was within normal limits (217 µm). Conclusion: Focal choroidal excavations and intrachoroidal cavitations can be observed in emmetropic patients in the absence of pachychoroid disease. In presence of CNV of unknown etiology, complete multimodal imaging can be of a great help to better define choroidal anomalies, allowing structural and vascular correlations between different lesions. Key words: Focal choroidal excavation; Choroidal cavitation; Multimodal imaging.

Acquired Focal Choroidal Excavation Secondary to Pachychoroid Choroidal Neovascular Membrane After Central Serous Chorioretinopathy.

Purpose: To report a case of acquired conforming-type focal choroidal excavation (FCE) secondary to a pachychoroid choroidal neovascular membrane (CNVM) triggered by central serous chorioretinopathy (CSCR). Methods: A case and its findings were analyzed. Results: A 54-year-old Asian man who had spontaneous resolution of CSCR in the right eye presented with a pachychoroid CNVM and FCE 1 year after the initial CSCR diagnosis. Intravitreal antivascular endothelial growth factor injections were initiated, and the subretinal fluid and intraretinal hemorrhage resolved. The patient was followed for FCE progression for 3 years. Conclusions: Acquired FCE can occur secondary to CSCR and pachychoroid CNVM. The pathogenesis may be focal choroidal ischemia, choroidal vascular collapse, and fibrosis leading to choroidal excavation. This case highlights the progression of the spectrum of pachychoroid disorders from CSCR, pachychoroid CNVM, and subsequent acquired confirming-type FCE. Further research is needed to assess other diseases leading to acquired FCE and to determine the underlying mechanism.

CURRENT VIEW OF THE SPECTRUM OF PACHYCHOROID DISEASES. A REVIEW.

INTRODUCTION: The term "pachychoroid" (greek pachy- [παχύ] - thick) was first used by Warrow et al. in 2013. It is defined as an abnormal and permanent increase in choroidal thickness ≥ 300 µm, which is caused by dilatation of the choroidal vessels of the Haller's layer, thinning of the Sattler's layer and the choriocapillaris layer. METHODOLOGY: Literary research focused on the current view of pachychoroid spectrum diseases, including clarification of the pathophysiological theories of the formation of "pachychoroid". RESULTS: It is assumed that "pachychoroid" disease has an autosomal dominant type of heredity. Depending on the further activity of various exogenous and/or endogenous factors, pachychoroid diseases may appear. According to the current knowledge, the spectrum of pachychoroid disease covers six clinical entities: pachychoroid pigment epitheliopathy, central serous chorioretinopathy, pachychoroid neovasculopathy, polypoid choroidal vasculopathy, focal choroidal excavation and peripapillary pachychoroid syndrome. In this study, we describe the clinical symptoms and objective findings of focal choroidal excavation and peripapillary pachychoroid syndrome. The current pathophysiological theory of pachychoroid diseases is based on impaired venous outflow from the choroid ("venous overload choroidopathy") and thickening of the sclera in the eyes of affected patients. CONCLUSION: Pachychoroid diseases should be included in the differential diagnosis of characteristic features observed during multimodal imaging analysis of choroidal changes.

Splitting of retinal pigment epithelium and Bruch's membrane due to a focal choroidal excavation.

We report an unusual finding of a split between the Bruch's membrane (BM) and retinal pigment epithelium (RPE) due to a focal choroidal excavation (FCE) in a healthy young girl with sudden onset visual disturbance. She was followed up regularly for over a year with serial optical coherence tomography (OCT) scans which revealed a parafoveal conforming type of FCE. Initial retinal edema subsided in a month. No associated pathology, such as a choroidal neovascular membrane, was seen. A split was seen between the RPE and the BM on one side of the FCE, which remained unchanged. We postulate this novel finding of the split between the RPE and BM to be due to the inelasticity of the BM, causing it to separate from the RPE due to the sudden outward force exerted during the formation of an FCE.

CURRENT VIEW OF THE SPECTRUM OF PACHYCHOROID DISEASES. A REVIEW.

INTRODUCTION: The term "pachychoroid" (greek pachy- [παχύ] - thick) was first used by Warrow et al. in 2013. It is defined as an abnormal and permanent increase in choroidal thickness ≥ 300 µm, which is caused by dilatation of the choroidal vessels of the Haller's layer, thinning of the Sattler's layer and the choriocapillaris layer. METHODOLOGY: Literary research focused on the current view of pachychoroid spectrum diseases, including clarification of the pathophysiological theories of the formation of "pachychoroid". RESULTS: It is assumed that "pachychoroid" disease has an autosomal dominant type of heredity. Depending on the further activity of various exogenous and/or endogenous factors, pachychoroid diseases may appear. According to the current knowledge, the spectrum of pachychoroid disease covers six clinical entities: pachychoroid pigment epitheliopathy, central serous chorioretinopathy, pachychoroid neovasculopathy, polypoid choroidal vasculopathy, focal choroidal excavation and peripapillary pachychoroid syndrome. In this study, we describe the clinical symptoms and objective findings of focal choroidal excavation and peripapillary pachychoroid syndrome. The current pathophysiological theory of pachychoroid diseases is based on impaired venous outflow from the choroid ("venous overload choroidopathy") and thickening of the sclera in the eyes of affected patients. CONCLUSION: Pachychoroid diseases should be included in the differential diagnosis of characteristic features observed during multimodal imaging analysis of choroidal changes.

Hyperreflective material in patients with non-neovascular pachychoroid disease.

BACKGROUND: This study aimed to report eleven cases of non-neovascular pachychoroid disease with hyperreflective material (HRM) that occurred in Japanese patients. METHODS: A retrospective review of data from eleven patients who had non-neovascular retinal pigment epithelium (RPE) protrusion with HRM in the neurosensory retina between March 2017 and June 2022 was conducted. Clinical examination, color fundus photography, fluorescein angiography, spectral-domain optical coherence tomography (SD-OCT), and OCT angiography data were analyzed. Main outcome measures were patient characteristics, changes in SD-OCT findings, and symptom outcomes. RESULTS: All cases had RPE protrusion and HRM with dilated choroidal veins, which were characteristic of pachychoroid disease. However, none of the cases had macular neovascularization (MNV). In 9 eyes (81.8%), HRM improved spontaneously without intervention and resulted in alterations in RPE, referred to as pachychoroid pigment epitheliopathy (PPE) or focal choroidal excavation (FCE). In these cases, symptoms such as metamorphopsia and distortion improved without treatment. In the remaining two cases (18.2%), HRM still persisted during the follow-up period. CONCLUSION: There are some cases of non-neovascular pachychoroid disorder with HRM, which might be a new entity of pachychoroid spectrum disease or an early stage of PPE or FCE. These cases should not be misdiagnosed as MNV, and careful observation is necessary.

Pachychoroid Spectrum Disorders: An Updated Review.

Pachychoroid disease spectrum is a recent term that has been associated with an increasing number of phenotypes. This review discusses updated findings for each of the typical pachychoroid entities (central serous chorioretinopathy, pachychoroid pigment epitheliopathy, pachychoroid neovasculopathy, polypoidal choroidal vasculopathy, peripapillary pachychoroid syndrome, and focal choroidal excavation), as well as two relatively new additions (peripapillary pachychoroid neovasculopathy and peripheral exudative hemorrhagic chorioretinopathy). Here, we discuss the potential pathogenic mechanisms for these diseases and relevant imaging updates. Finally, we argue for a consistent classification scheme for these entities.

Focal Choroidal Excavation: Epidemiology, Clinical Characteristics and Multimodal Imaging Findings.

BACKGROUND: Focal choroidal excavation (FCE) is one of the pachychoroid spectrum diseases. It may be an isolated lesion or associated with other ophthalmological disorders. The aim of the study was to present the epidemiology, clinical features and multimodal imaging findings in FCE. METHODS: This is a case series of 14 consecutive patients with a diagnosis of FCE, confirmed by multimodal imaging, from a review of the 5076 optical coherence tomography (OCT) scans in 2538 patients. Choroidal thickness (CT) was measured under the fovea and in the area of maximum choroidal thickening in the affected eye and under the fovea in the fellow eye. RESULTS: The mean age of the subjects was 40 ± 13.58 years. FCE occurred unilaterally and was an isolated lesion in all cases. The fellow eye did not show any macular pathology in all patients. Twelve eyes presented conforming FCEs and two non-conforming FCEs. In 79% of cases, FCE was subfoveal. The mean maximum CT was 390 µm in the affected eye with the presence of pachyvessels. A total of 13 patients were asymptomatic, while one patient reported a visual disturbance due to neovascularization secondary to FCE. Of all the multimodal imaging techniques, optical coherence tomography (OCT) provided the most important data in the diagnosis of FCE. CONCLUSIONS: Our study confirmed that FCE is a rare ocular condition, but it may be more common in Caucasian population than previously known. Multimodal imaging methods, mainly OCT, are crucial in FCE diagnostics. Further studies are needed to expand the available knowledge about its etiology and clinical course.

Focal choroidal excavation associated with nonmelanocytic iris tumor.

PURPOSE: To describe a unique unilateral association between an iris stromal tumor and a macular focal choroidal excavation. CASE DESCRIPTION: A 40-year old patient presented with a small iris tumor associated with a unilateral macular lesion disclosed during a routine ophthalmologic examination. The patient was asymptomatic and visual function was not affected. After clinical and instrumental evaluation, a diagnosis of nonmelanocytic undefined stromal tumor of the iris associated with macular focal choroidal excavation was made. The size and shape of the two lesions remained stable during a 7-year follow-up and the patient did not develop other signs. CONCLUSION: The concurrent presence of a stromal iris tumor associated with focal choroidal excavation has never been reported. Further reports of this association are required in order to understand its exact pathogenesis.

Case Report: Complete tomographic resolution of focal choroidal excavation complicated with choroidal neovascularization after anti-VEGF treatment.

Purpose We report a case of focal choroidal excavation (FCE) that resolved after intravitreal injection of anti-vascular endothelial growth factor (VEGF) for choroidal neovascularization (CNV) and we describe its tomographic features. Case report A 43-year-old female presented with blurred vision and metamorphopsia in her left eye (LE) evolving for 10 years. The best corrected visual acuity (BCVA) was 20/20 in the right eye and 20/32 in the LE. Fundus examination revealed the presence of a yellowish foveal lesion which corresponded to a conforming FCE associated to a pachychoroid on swept-source optical coherence tomography (OCT). The OCT-Angiography showed a foveal flow void in the choriocapillaris layer corresponding to the FCE area. Three years later, the patient complained of visual impairment, more metamorphopsia with a BCVA of 20/80 on her LE. The OCT showed intraretinal fluid with a foveal retinal pigment epithelium (RPE) detachment. The OCT-angiography confirmed the presence of CNV. Two months after one intravitreal bevacizumab injection, the OCT documented the complete resolution of macular edema, the regression of the CNV tissue and the restoration of a normal aspect of the fovea without any FCE. Her BCVA improved to 20/32 with resolution of the metamorphopsia. The OCT aspect remained stable during 3 years of follow-up. Conclusion CNV can develop in FCE and anti-VEGF therapy is a good option treatment. After treatment, FCE pattern can change et may completely resolve.

Evolution of focal choroidal excavation in ABCA4-related retinopathy.

Purpose: To report long-term evolution of unilateral focal choroidal excavation in a patient with ABCA4-related retinopathy. Observations: A 51-year-old female with ABCA4-related retinopathy developed a small juxtafoveal defect in Bruch's membrane in a region of macular atrophy in her left eye. In follow-up, the defect widened and subsequently developed into a focal choroidal excavation. Over the next 8 years, serial optical coherence tomography imaging illustrated the conversion of the focal choroidal excavation from conforming subtype into non-conforming subtype with eventual macular hole formation. Conclusions and importance: The long-term follow-up of a patient with serial imaging highlights the potential dynamic nature of focal choroidal excavation in ABCA4-related retinopathy. Progressive retinal degeneration may influence focal choroidal excavation morphology and may promote macular hole formation.

A case of extrafoveal focal choroidal excavation.

Purpose: To describe an extrafoveal presentation of focal choroidal excavation and corresponding imaging findings. Methods: Retrospective case report. Patients: Single patient with diagnosis of extrafoveal focal choroidal excavation. Results: A 28-year-old man was referred for evaluation of a suspicious lesion in his right posterior fundus. Functional examination demonstrated best-corrected visual acuity of 20/40 in the right eye and 20/20 in the left eye. Ophthalmoscopy exam and fundus photography revealed a yellowish lesion superior to the fovea of the right eye. The lesion was hyperfluorescent on fundus autofluorescence imaging and late phase fluorescein angiography demonstrated staining of the lesion without leakage. Optical coherence tomography (OCT) of the lesion was consistent with focal choroidal excavation. Five months after presentation, the patient's vision, exam, and imaging remained stable. Discussion: Focal choroidal excavation is a recently recognized clinical entity that is often incidentally found, and presents asymptomatic or with mildly decreased visual acuity in the affected eye. It has characteristic findings on optical coherence tomography (OCT) that can be used to distinguish it from other retinal lesions that may appear similar on ophthalmoscopy. We present the case of an uncommon extrafoveal presentation of FCE at a relatively young age, which may represent either a congenital abnormality or the sequelae of an unidentified chronic process. While most FCE remain stable, patients are often followed for lesion progression and the possibility of choroidal vascular pathology which might necessitate intervention.

Peculiar presentation of bilateral choroidal osteoma in a child.

Report of a presentation of bilateral choroidal osteoma without neovascularization in a child following a school screening. Diagnosis was based on funduscopy, optical coherence tomography and B-scan ultrasonography. The child was followed regularly with cycloplegic refraction, funduscopy, macular SD-OCT and EDI-SD-OCT. Fluorescein angiography and OCT-angiography will be performed if necessary. PURPOSE: To report a peculiar presentation of bilateral choroidal osteoma in a very young child. METHODS: Case report. RESULTS: During a school screening, a 4-year-old girl was detected with anisometropia as the first sign of a bilateral choroidal osteoma. The diagnosis was based on funduscopy, optical coherence tomography and B-scan ultrasonography. CONCLUSION: Choroidal osteomas are rare benign tumors that can lead to severe visual loss due to progression or complications. They are found mostly in young adults, but in our case, the refractive screening allowed an early diagnosis despite the lack of visual symptoms.

Sequence of focal choroidal excavation types in a patient with bilateral central serous chorioretinopathy / Sequência dos tipos de escavação focal de coroide em um paciente com coriorretinopatia serosa central bilateral

ABSTRACT A 39-year-old policeman complained of decreased bilateral central vision over the last two years. On examination, visual acuity was 20/40 and 20/400 in the right (OD) and left eye (OS), respectively, and fundoscopy revealed a bilateral hypopigmented macular lesion. Fluorescein and indocyanine green angiography demonstrated leakage and hyperintense spots, respectively, within the macular areas. At baseline, optical coherence tomography showed subretinal fluid in the OD and a conforming focal choroidal excavation in the OS. Focal choroidal excavation converted from conforming to nonconforming type at 4-month follow-up and then reversed to conforming type at 12-month follow-up, and was associated with incomplete retinal pigment epithelium and outer retina atrophy over the area of excavation. Pachyvessels were also evidenced in the choroid, without neovascularization. We report for the first time a case of focal choroidal excavation that progressed from conforming to nonconforming type and then reverted to its primary configuration (conforming type) in a patient with concurrent bilateral central serous chorioretinopathy.

RESUMO Um policial de 39 anos se queixava de diminuição bilateral da visão central nos últimos 2 anos. A acuidade visual era 20/40 e 20/400 no olho direito (OD) e esquerdo (OE) e a fundoscopia revelou lesão macular hipopigmentada bilateral. A angiografia fluoresceínica e com indocianina verde revelaram, respectivamente, vazamento do corante e áreas hiperintensas nas regiões maculares. A tomografia de coerência óptica evi denciou fluido sub-retiniano no OD e escavação focal de coroide do tipo conformacional no OE. Após 4 meses, a escavação focal de coroide mudou de conformacional para não conformacional e, aos 12 meses, reverteu para conformacional associado a atrofia incompleta do epitélio pigmentar da retina e da retina externa na região da escavação. Também foi evidenciado paquicoroide, sem neovascularização. Relatamos pela primeira vez uma escavação focal de coroide que evoluiu de conformacional para não conformacional e, em seguida, retornou à configuração primária (conformacional) em um paciente com coriorretinopatia serosa central bilateral.

Focal choroidal excavation disappearing after successful treatment of type 2 choroidal neovascularization with intravitreal aflibercept.

PURPOSE: To report a case with focal choroidal excavation (FCE) accompanied by type 2 choroidal neovascularization (CNV), in which the CNV was successfully treated with intravitreal aflibercept, after which the FCE was no longer detectable. OBSERVATIONS: A conforming type of FCE was detected in the left eye of a 34-year-old Japanese man who visited our hospital for a second opinion regarding treatment for his right eye. Three months later, type 2 CNV developed in the region corresponding to the FCE in the left eye. After treatment with intravitreal aflibercept, the CNV disappeared, and FCE was no longer detected. No recurrence has been observed in the 12 months following the treatment. CONCLUSIONS AND IMPORTANCE: Although the etiology of FCE has not been fully elucidated, we discussed the mechanisms underlying its occurrence, its association with CNV, and the disappearance of both conditions after treatment.