Diagnóstico de adenocarcinoma pulmonar primario a partir de metástasis coroidea. Reporte de caso / Diagnosis of primary lung adenocarcinoma from choroidal metastasis. Case report

En la actualidad se cuenta con escasos reportes de casos clínicos de pacientes con metástasis coroidea sintomática como la presentación inicial de cáncer de pulmón. En este reporte describimos el caso de una paciente con adenocarcinoma de pulmón, la cual fue diagnosticada por síntomas iniciales oculares consistentes en pérdida visual progresiva y presencia de escotomas en ambos ojos, por lo que se le realizaron exámenes adicionales que llevaron al diagnóstico de cáncer de pulmón con metástasis coroidea. El pronóstico de estos pacientes es pobre, en la mayoría de los casos se trata de tumores en estadios avanzados de la enfermedad.

Currently there are few clinical case reports of patients with symptomatic choroidal metastasis as the initial presentation of lung cancer. In this report, we describe the case of a female patient with lung adenocarcinoma, who was diagnosed due to initial ocular symptoms consisting of progressive visual loss and the presence of scotomas in both eyes, so additional tests were performed leading to the diagnosis of lung cancer with choroidal metastasis.

Coloboma of the retina, choroid and iris co-existing with cardiac & Skeletal anomalies in a male Nigerian: A case of noonan syndrome.

A 19-year-old male undergraduate presented to the eye clinic with a history of poor vision in the left eye since childhood. The best-corrected visual acuity was 6/6 in the right eye and hand movement in the left eye respectively. Examination of the anterior segment of the right eye was essentially normal, whereas the anterior segment examination of the left eye revealed a small globe, microcornea, and an iris coloboma inferiorly at the 6 o'clock position. Binocular indirect ophthalmoscopy of the right eye revealed a pink disc, normal vessels and macula, lattice degeneration with retinal holes, and a flat retina. The left eye had a pink disc, normal macula and vessels with an inferior arc-shaped excavation with exposure of the sclera, which involved both the disc and macula and was in keeping with a retinochoroidal coloboma. Systemic examination revealed low-set ears with a left atrophic pinna, mild kyphoscoliosis, pectus excavatum, and an atrophic left lower limb with anomalies of the toes and talipes equinovarus. A pan-systolic murmur was present on cardiovascular examination.

The Vascular Pattern In Vicinity Of Chorioretinal Coloboma: An Optical Coherence Tomography Angiography Study.

BACKGROUND: Chorioretinal coloboma is a congenital anomaly which can be present in a clinical spectrum with a possibility of significant influence on visual acuity. Optical coherence tomography (OCT) has been frequently used for the study of chorioretinal coloboma. OCT angiography (OCTA), as a non-invasive method of taking high-resolution images of chorioretinal vessels, can improve our understanding of developmental aspects of this anomaly. MATERIALS AND METHODS: This observational case series evaluated patients with chorioretinal coloboma, who were referred to the eye clinic of a university-based hospital between March 2018 and October 2019. All patients underwent comprehensive ocular examination, OCT, and OCTA using AngioVue technologies from the colobomatous sites. RESULTS: This study included OCTA imaging of five patients (six eyes) with chorioretinal coloboma lesions. Large retinal vessels, which were intact in all eyes, coursed through the coloboma in four cases and around the margin of the involved area in one case. Attenuation of the microvasculature in the vicinity of coloboma with various extents from nearly normal to severe attenuation was evident in OCTA. Five eyes of four patients had disorganized superficial vessel plexus. Also corkscrew vessels were found in one eye. CONCLUSIONS: This is the first study assessing the vascular pattern in the vicinity of chorioretinal coloboma using OCTA. OCTA revealed nearly normal to severely attenuated retinal microvasculature. At the same time, intact large retinal vessels at the level of superficial vessel plexus coursed across or around the coloboma. OCTA imaging adds new insights about vascular characteristics in the vicinity of these lesions.

Confirming and expanding the phenotypes of FZD5 variants: Coloboma, inferior chorioretinal hypoplasia, and high myopia.

Purpose: Two frameshift and two indel variants in FZD5 have been reported to cause coloboma in two families with incomplete penetrance and in two isolated cases in previous studies, respectively. This study aims to confirm this association and expand related specific phenotypes based on the genotype-phenotype analysis of FZD5 variants. Methods: Variants in FZD5 were collected from our in-house exome sequencing data of 5,845 probands with different eye conditions. Multistep bioinformatics analysis was used to classify the variants. Potential pathogenic variants and phenotypic variations were further evaluated based on family segregation and genotype-phenotype analysis. Results: In total, 63 rare variants were detected in FZD5. Multistep bioinformatics and genotype-phenotype analyses suggested that eight rare heterozygous variants in nine families should be considered potential pathogenic variants: three novel frameshift variants (c.350_356delCGCCGCT/p.Ser117*, c.1403_1406dupACCT/p.Tyr470Profs*130, and c.1428delG/p.Ser477Alafs*130) and five novel missense variants (c.388C>A/p.Arg130Ser, c.794G>T/p.Arg265Leu, c.1162G>A/p.Gly388Ser, c.1232A>G/p.Tyr411Cys, and c.1510A>T/p.Met504Leu). Among the nine families, carriers of these variants showed overlapping phenotypes, including typical uveal coloboma (12 eyes of seven patients from four families), inferior chorioretinal hypoplasia (ICH) or optic disc hypoplasia (ODH; 12 eyes of eight patients from six families), and high myopia (10 eyes of five patients from five families) within individual families or among different families. Conclusions: The data presented in this study confirmed that variants in FZD5, not only frameshift variants but also missense variants, are a common cause of uveal coloboma. In addition, ICH, ODH, and high myopia may be variant phenotypes that are frequently associated with FZD5 variants.

Large choroidal excavation in pachychoroid disease: A case report.

PURPOSE: To report the morphological and clinical features of a case of pachychoroid disease with focal choroidal excavation and large choroidal excavation complicated by choroidal neovascularization. METHODS: The patient underwent a complete ophthalmologic examination including best-corrected visual acuity assessment, anterior segment and dilated fundus examination, fluorescein and indocyanine green angiography, and spectral-domain optical coherence tomography. RESULTS: During the previous follow-up, the 57-year-old man received a diagnosis of central serous chorioretinopathy in the right eye with a late appearance of a choroidal neovascularization. The best-corrected visual acuity was 20/125 and 20/20 in the right and left eye, respectively. Dilated fundus examination, fluorescein angiography, and indocyanine green angiography confirmed a large subretinal fibrosis corresponding to the evolution of the choroidal neovascularization in the right eye. Spectral-domain optical coherence tomography clearly demonstrated in the right eye a large choroidal excavation below the fibrotic neovascular lesion with multiple hyperreflective foci inside the cavity, and in the left eye, a conforming focal choroidal excavation, bowl-shape type, associated with increased choroidal thickness with pachyvessels. CONCLUSION: Large choroidal excavation has been rarely reported. Although the pathogenetic mechanisms leading to the formation of large choroidal excavation are still only hypotheses, a combination of primary degenerative inflammatory factors sustaining the focal choroidal excavation formation and disruptive process of the choroidal neovascularization could be retained responsible for the large choroidal excavation.

Aniridia with lenticular and choroidal coloboma.

This case report presents a rare association of a complete aniridia with lenticular and choroidal coloboma. An 8-year-old female patient was referred to our glaucoma clinic with aniridia, nystagmus and bilateral corneal opacity with right eye being phthisical. Ultrasonography of the phthisical eye revealed the presence of an old closed funnel retinal detachment. Further examination under anaesthesia revealed lens coloboma in the inferonasal quadrant and presence of a choroidal coloboma in the left eye. The intraocular pressure was 28 mmHg with a central corneal thickness of 693 µm. A macula sparing laser barrage around the colobomatous area was done in the left eye and topical ocular hypotensives were started.

Coloboma may be a shared feature in a spectrum of disorders caused by mutations in the WDR37-PACS1-PACS2 axis.

We report a male adult with early infantile-onset epilepsy, facial dysmorphism, and iridal and choroidal coloboma who had a de novo heterozygous mutation in PACS2, that is, c.625G > A p.(Glu209Lys). This specific mutation was previously reported in a patient with PACS2-related disorder (early infantile epileptic encephalopathy 66). De novo heterozygous mutations in WDR37 have been shown to cause a novel human disorder, neurooculocardiogenitourinary syndrome (NOCGUS syndrome) (OMIM #618652), characterized by intellectual disability, facial dysmorphism, and coloboma. According to large-scale interactome data, WDR37 interacts most strongly, by far, with PACS1 and PACS2. Clinically, coloboma has been described as a feature in a WDR37-related disorder and a PACS1-related disorder (Schuurs-Hoeijmakers syndrome), but not in a PACS2-related disorder. Our review of the phenotypes of three human disorders caused by WDR37, PACS1, and PACS2 mutations showed a significant overlap of epilepsy, intellectual disability, cerebellar atrophy, and facial features. The present observation of coloboma as a shared feature among these three disorders suggests that this group of genes may be involved in ocular development. We propose that dysregulation of the WDR37-PACS1-PACS2 axis results in a spectrum that is recognizable by intellectual disability, distinctive facial features, and coloboma.

Focal choroidal excavation: review of literature.

Focal choroidal excavation (FCE) is defined as an area of concavity in choroid detected on optical coherence tomography. These are mostly present in macular region without evidence of accompanying scleral ectasia or posterior staphyloma. Though initially considered to be congenital, increasing number of cases have been identified in association with other choroidal pathologies such as central serous choroidopathy, choroidal neovascularisation, polypoidal choroidal vasculopathy, choroiditis, choroidal tumours. In this review article, we aim to elaborate on the morphology, pathogenesis and differential diagnosis of FCE and specifically discuss the spectrum of diseases with known association along with the impact of their treatment on FCE.

Structure of the Retinal Margin and Presumed Mechanism of Retinal Detachment in Choroidal Coloboma.

PURPOSE: To describe the vitreoretinal structure at the margin of the choroidal coloboma in infants and older patients using swept-source (SS) OCT. DESIGN: Retrospective case series. PARTICIPANTS: Nineteen eyes of 16 patients with choroidal coloboma (7 males, 9 females; average age, 12.3 ± 7.1 years). METHODS: The patients were classified into 2 groups: infants 1 year of age or younger (3 eyes) and older patients (16 eyes). Each finding on SS OCT was documented according to previously defined histopathologic findings. MAIN OUTCOME MEASURES: Description of the SS OCT features of choroidal colobomas. RESULTS: Swept-source OCT showed that the extracolobomatous retina centrally traversed the margin to continue as the marginal intercalary membrane (MICM), whereas the outer layers of the MICM were reversed at the point (point of reversal [POR]). The expected duplication was seen in all infant eyes, but in none of the older eyes whose outer layers of the MICM were ambiguous. However, at the boundary between the layered MICM and monolayered central intercalary membrane (CICM), the POR was detectable in all patients. Further SS OCT analysis showed that the MICM schisis and CICM schisis occurred simultaneously with vitreous traction. Retinal detachments (RDs) seen in 4 eyes were connected to the only MICM schisis, and a MICM break was identified in 1 eye. Swept-source OCT showed that retinal pigment epithelial hyperplasia adhered tightly to the retina and that the glial triangle was adhered tightly to the sclera, indicating barriers to the development of RD after MICM schisis. CONCLUSIONS: Swept-source OCT first visualized the POR in infant eyes and showed that the POR was identifiable despite the atrophic changes in the outer layer of the MICM in the older eyes. Based on the POR location, we confirmed that the intercalary membranes reported in previous OCT studies were clearly differentiated between the MICM and CICM. We also showed that the presence of MICM and CICM schisis resulted from vitreous traction at the coloboma margin and that MICM breaks induced RD only if the barrier that prevented the development of RD was broken.

CHOROIDAL INFLAMMATION AND CHORIOCAPILLARIS ISCHEMIA IN FOCAL CHOROIDAL EXCAVATION IN COMPARISON TO PACHYCHOROID NEOVASCULOPATHY.

PURPOSE: To investigate the choriocapillaris and choroidal characteristics of focal choroidal excavation (FCE) to establish pathomechanisms of the disease. METHODS: Thirty eyes with FCE, 26 eyes with pachychoroid neovasculopathy (PNV), and 25 participants without any conditions (control group) were analyzed retrospectively. The thickness of both choriocapillaris equivalent and whole choroid was measured at three different points: under the lesion (excavation or neovascularization), in the normal retina, and in the fovea of fellow eye. Indocyanine green angiographic images were collected to confirm choriocapillaris ischemia and the presence of choroidal inflammation. RESULTS: In both FCE and PNV, choriocapillaris-equivalent attenuation was observed under the lesion compared with other region of the retina (28.1 ± 11.3 µm vs. 69.4 ± 20.0 µm in FCE; 23.5 ± 9.7 µm vs. 62.3 ± 14.7 µm in PNV; both P < 0.001). We also observed focal thinning of the whole choroid under the lesion (149.7 ± 88.7 µm vs. 296.6 ± 83.2 µm; P < 0.001) in FCE but not in PNV. Pachyvessels distribution on optical coherence tomography and numerous dark areas on indocyanine green angiography implied that choroidal inflammation was related to the FCE occurrence. CONCLUSION: Choriocapillaris ischemia was related to both FCE and PNV. The choroidal thinning under the excavation and adjacent pachyvessels observed in FCE suggested that focal inflammation and scarring may contribute to choriocapillaris ischemia and eventual retinal pigment epithelium retraction with dysfunction in the pathomechanism.

Choroidal vascular changes in age-related macular degeneration: A protocol for systematic review and meta-analysis.

BACKGROUND: As an increasing age-related eye disease, age-related macular degeneration (AMD) is becoming a common cause of irreversible visual loss in elder population. The mechanism of AMD remains uncertain and covers a complex risk factors. Choroidal vascularity index (CVI) is a sensitive parameter obtained by enhanced depth imaging of optical coherence tomography which allows the choroid in more detail and accurate assessment in the pathogenesis of AMD. The objective of this current study is to evaluate choroidal structural alternations measured by CVI in AMD. METHODS: We will review 4 English databases (PubMed, Embase, Cochrane Library, and Web of Science) from their inception until present to select eligible articles. English-language and case-control studies will be accepted. The data extraction content and quantitative analysis will be performed systematically by 2 independent authors. The primary outcome is the alternation of CVI in AMD. The secondary outcomes consist of choroidal thickness (CT), luminal area (LA), stromal area (SA), and total choroidal area (TCA). Subgroup analysis, sensitivity analysis, and publication bias will be performed to check the robustness of the pooled outcome data. RESULTS: Changes of quantitative parameters such as CVI will be obtained in patients with AMD. CONCLUSION: This study will elucidate alternations of choroidal vascular and stromal component in AMD and provide robust evidence on the pathophysiology of AMD. REGISTRATION NUMBER: INPLASY.

A Syrian patient with Steel syndrome due to compound heterozygous COL27A1 mutations with colobomata of the eye.

The joint occurrence of short stature, congenital dislocation of the hip, carpal coalition, dislocation of the radial head, cavus deformity, scoliosis, and vertebral anomalies was first described in 1993 by Steel et al. (OMIM #615155) in 23 children from Puerto Rico. The condition is caused by a deficient matrix protein, collagen type XXVII alpha 1 chain, due to bi-allelic loss of function mutations in the gene COL27A1. Outside of Puerto Rico, only four families have been described, in three of which the patients also had hearing loss. However, structural eye defects have not yet been reported in conjunction with this rare autosomal recessive syndrome. Here, we describe a 9-year-old girl born to nonconsanguineous Syrian parents with the characteristic features of Steel syndrome, including short stature, massive malalignment of large joints, kyphoscoliosis, hearing loss, and typical facial dysmorphism. However, she was also born with bilateral colobomata of the irides and choroido-retinae with unilateral affection of the macula. Whole exome sequencing identified two pathogenic compound heterozygous variants in COL27A1: c.93del, p.(Phe32Leufs*71) and c.3075del, p.(Lys1026Argfs*33). There was no discernible alternative cause for the colobomata. Our findings might indicate an association of this exceptionally rare disorder caused by COL27A1 mutations with developmental defects of the eye from the anophthalmia/microphthalmia/coloboma spectrum.

Exame ultrassonográfico no diagnóstico de coloboma retinocoroidiano bilateral / Ultrasonographic examination in the diagnosis of bilateral retinochoroid coloboma

Resumo Relatamos aqui o caso de E.R.S.S., feminino, 43 anos, diagnosticada com coloboma de retina e coroide bilateral, afim de enfatizar a importância dos exames pré-operatórios, até mesmo de uma boa tomada de projeção luminosa, a qual está sendo muitas vezes relegada a um patamar desprezível dentro da prática oftalmológica. Salientamos também que o exame ultrassonográfico prévio à indicação cirúrgica é de suma importância, no entanto, esse deve ser realizado por profissional experiente e sua correta interpretação deve ser exaustivamente procurada para que erros interpretativos não se transformem em conduta clínico cirúrgica inadequada e consequentes danos, muitas vezes, irreparáveis. Considerando-se todos os aspectos e complicações do coloboma já citados nesse relato, a conduta diante de um diagnóstico dessa malformação deve ser: pesquisar associação com outras doenças oculares e/ou sistêmicas (CHARGE: coloboma, cardiopatia congênita, atresia de coana com múltiplas anomalias), realizar tratamento e acompanhamento em caso de complicações (Ex. descolamento de retina, ambliopia e estrabismo) e prevenção é feita através de aconselhamento genético.

Abstract We report here the case of E.R.S.S. female, 43 years old, diagnosed with bilateral coloboma of choroid and retina, in order to emphasize the importance of preoperative exams, even a good shot of light projection, which is often being relegated to a negligible level in ophthalmological practice.We emphasize also that the ultrasound examination prior to the surgical indication is of paramount importance, however,this should be performed by experienced professional and the correct interpretation must be thoroughly searched for interpretative errors not become inadequate surgical clinical conduct and consequential irreparable damage. Considering all aspects and complications already mentioned in this report, coloboma to conduct before a diagnosis of this malformation should be: search for association with other eye diseases and/or systemic (CHARGE: coloboma, congenital heart defect, atresia of posterior nasal apertures with multiple anomalies), performing and monitoring treatment in case of complications (E.g. retinal detachment, amblyopia and strabismus) and prevention is made through genetic counseling.