Adult-onset foveomacular vitelliform dystrophy (AOFVD) is a rare disease characterized by accumulation of yellowish deposits in the macula. Rarely, it may be complicated by choroidal neovascularization (CNV). Cases with CNV may be confused with occult CNV in age-related macular degeneration. In our case, we will present the visual and anatomical results of a patient with AOVF-related CNV, in which we administered 3 doses of intravitreal ranibizumab (IVR). A 59-year-old female patient, who attended our clinic with the complaint of decreased vision in both eyes, was diagnosed with AOVF-related CNV in both eyes and was treated with 3 doses of IVR for 3 months. Despite the improvement in visual and anatomical functions 1 month after the first dose, vision decreased, and anatomical functions regressed to the pre-injection state in continued injections. IVR therapy is not an appropriate treatment option in the treatment of AOVF-associated CNV.
- MeSH
- Vitelliform Macular Dystrophy * diagnostic imaging diagnosis drug therapy MeSH
- Antibodies, Monoclonal, Humanized administration & dosage pharmacology therapeutic use MeSH
- Angiogenesis Inhibitors administration & dosage pharmacology therapeutic use MeSH
- Intravitreal Injections MeSH
- Middle Aged MeSH
- Humans MeSH
- Choroidal Neovascularization diagnostic imaging drug therapy MeSH
- Ranibizumab administration & dosage therapeutic use MeSH
- Check Tag
- Middle Aged MeSH
- Humans MeSH
- Female MeSH
- Publication type
- Case Reports MeSH
Centrální serózní chorioretinopatie (CSC) je onemocnění charakterizované serózním odchlípením neuroretiny zejména v zadním pólu oka. Často je doprovázené serózním odloučením retinálního pigmentového epitelu (RPE) a sdružené s prosakováním tekutiny do subretinálního prostoru skrze defektní RPE. CSC nejčastěji postihuje muže v produktivním věku. Přesná patofyziologie onemocnění není zcela známa. Na základě angiografického vyšetření s indocyaninovou zelení (ICG), která odhalila zvýšenou permeabilitu choroidálních cév, a optické koherenční tomografie (OCT) ukazující zvýšenou tloušťku choroidey se předpokládá choroidální vaskulopatie jako primární příčina vzniku CSC. Ve většině případů má CSC dobrou prognózu se spontánní resorpcí subretinální tekutiny (SRT) a úpravou zrakových funkcí. U malého procenta pacientů však onemocnění přechází do chronického či rekurentního průběhu a může vést k nevratným funkčním i anatomickým změnám sítnice s konečným klinickým obrazem difuzní retinální pigmentové epitelopatie (DRPE). Optimální léčebný přístup k pacientům s CSC zůstává kontroverzní. V posledních dekádách se v léčbě chronických forem CSC (cCSC) používalo nespočet léčebných přístupů; tyto zahrnovaly například laserovou fotokoagulaci, medikamentózní léčbu, standardní fotodynamickou terapii (PDT) či anti-VEGF. V posledních letech se v léčbě cCSC preferuje méně destruktivní metoda, kterou je PDT v redukovaných dávkovacích schématech, ať už s redukovanou dávkou verteporfinu nebo použité energie laserového paprsku. Je prokázána srovnatelná účinnost a bezpečnost při použití redukovaných schémat PDT u pacientů s cCSC, u kterých došlo ke zlepšení nejlépe korigované zrakové ostrosti i redukci SRT.
Central serous chorioretinopathy (CSC) is a disease characterized by serous detachment of the neuroretina, especially in the posterior pole of the eye. It is often accompanied by serous detachment of the retinal pigment epithelium (RPE) and associated with the leakage of fluid into the subretinal space through the defective RPE. CSC most often affects men of working age. The exact pathophysiology of the disease is not completely known. Based on indocyanine green angiography (ICG), which revealed increased permeability of choroidal vessels, and optical coherence tomography (OCT) showing increased choroidal thickness, choroidal vasculopathy is assumed to be the primary cause of CSC. In most cases, CSC has a good prognosis with spontaneous resorption of the subretinal fluid (SRF) and improvement of visual functions. However, in a small percentage of patients the disease progresses to a chronic or recurrent course, and can lead to irreversible functional and anatomical changes of the retina with a final clinical picture of diffuse retinal pigment epitheliopathy (DRPE). The optimal treatment approach for patients with CSC remains controversial. In recent decades, myriad therapeutic approaches have been used in the treatment of chronic forms of CSC (cCSC); these included for example laser photocoagulation, pharmaceutical treatment, standard photodynamic therapy (PDT) or anti-VEGF. In recent years a less destructive method, specifically PDT in reduced dose regimens, either with a reduced dose of verteporfin or the laser beam energy used, has been preferred in the treatment of cCSC. Comparable efficacy and safety has been demonstrated using reduced-dose or reduced-fluence PDT regimens in patients with cCSC, with an improvement in best-corrected visual acuity and reduction of SRF.
- MeSH
- Central Serous Chorioretinopathy * diagnostic imaging diagnosis classification physiopathology therapy MeSH
- Fluorescein Angiography methods MeSH
- Photochemotherapy methods MeSH
- Humans MeSH
- Multimodal Imaging classification methods MeSH
- Choroidal Neovascularization physiopathology MeSH
- Vision Disorders diagnostic imaging diagnosis etiology MeSH
- Prognosis MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
We aim to report the ocular phenotype and molecular genetic findings in two Czech families with Sorsby fundus dystrophy and to review all the reported TIMP3 pathogenic variants. Two probands with Sorsby fundus dystrophy and three first-degree relatives underwent ocular examination and retinal imaging, including optical coherence tomography angiography. The DNA of the first proband was screened using a targeted ocular gene panel, while, in the second proband, direct sequencing of the TIMP3 coding region was performed. Sanger sequencing was also used for segregation analysis within the families. All the previously reported TIMP3 variants were reviewed using the American College of Medical Genetics and the Association for Molecular Pathology interpretation framework. A novel heterozygous variant, c.455A>G p.(Tyr152Cys), in TIMP3 was identified in both families and potentially de novo in one. Optical coherence tomography angiography documented in one patient the development of a choroidal neovascular membrane at 54 years. Including this study, 23 heterozygous variants in TIMP3 have been reported as disease-causing. Application of gene-specific criteria denoted eleven variants as pathogenic, eleven as likely pathogenic, and one as a variant of unknown significance. Our study expands the spectrum of TIMP3 pathogenic variants and highlights the importance of optical coherence tomography angiography for early detection of choroidal neovascular membranes.
- MeSH
- Humans MeSH
- Macular Degeneration * MeSH
- Mutation MeSH
- Choroidal Neovascularization * MeSH
- Eye MeSH
- Tissue Inhibitor of Metalloproteinase-3 genetics MeSH
- Check Tag
- Humans MeSH
- Publication type
- Journal Article MeSH
- Geographicals
- Czech Republic MeSH
Cieľ: Kazuistika záchytu choroidálnej neovaskularizácie (CNV) u pacienta v ranom detstve liečeného pre obojstranný retinoblastóm. Materiál a metodika: Pacient v 1,5 roku života liečený na endofytický retinoblastóm 4. štádia (podľa Reese-Ellsworthovej klasifikácie) obojstranne, s pozitívnou mutáciou v Rb1 géne. Po 3-násobnom absolvovaní obojstranného laserového ošetrenia sietnice a 6-tich cykloch systémovej chemoterapie zostal tumor bez aktivity a iných komplikácii. V 14-tich rokoch sa u chlapca objavilo zhoršenie videnia na ľavom oku s prítomnými metamorfopsiami. Na základe lokálneho nálezu a ďalších pomocných vyšetrení mu bola diagnostikovaná CNV v makulárnej oblasti na rozhraní jazvy po tumore a zdravej sietnice ľavého oka. Výsledky: Po troch podaniach anti-VEGF(antibodies blocking vascular endothelial growth factor) preparátu intravitreálne (bevacizumab 1,2 mg) došlo k redukcii CNV a tiež k zlepšeniu zrakových funkcii. Záver: Vitreoretinálne komplikácie po liečbe retinoblastómu nie sú časté, avšak môžu sa vyskytnúť ako dôsledok lokálnej a celkovej liečby tumoru. U nášho pacienta sa jednalo o raritnú komplikáciu so vznikom CNV v dlhšom časovom odstupe od liečby s dobrou reakciou na intravitreálne podanie anti-VEGF preparátu.
Aim: Case report of choroidal neovascularization (CNV) detection in patient who was treated for bilateral retinoblastoma in early childhood. Material and methods: Patient at 1.5 years of age treated for endophytic retinoblastoma stage 4 (according to the Reese-Ellsworth classification) bilaterally, with a positive mutation in the Rb1 gene. After undergoing bilateral retinal laser treatment and 6 cycles of systemic chemotherapy, the tumor remained inactive without other complications. At the age of 14, the boy developed visual impairment in his left eye with metamorphosis. Based on a local finding and other auxiliary examinations, he was diagnosed with CNV in the macular area at the interface of the tumor scar and the healthy retina of the left eye. Results: After three applications of anti-VEGF (antibodies blocking vascular endothelial growth factor) substance intravitreally (bevacizumab 1.2 mg), there was a reduction in CNV and also an improvement in visual function.
- MeSH
- Intravitreal Injections MeSH
- Humans MeSH
- Adolescent MeSH
- Choroidal Neovascularization diagnosis drug therapy complications MeSH
- Retinoblastoma * complications therapy MeSH
- Vascular Endothelial Growth Factor A therapeutic use MeSH
- Treatment Outcome MeSH
- Check Tag
- Humans MeSH
- Adolescent MeSH
- Male MeSH
- Publication type
- Case Reports MeSH
- MeSH
- Geographic Atrophy diagnostic imaging pathology MeSH
- Cicatrix diagnostic imaging pathology MeSH
- Humans MeSH
- Macular Degeneration * diagnostic imaging classification pathology MeSH
- Choroidal Neovascularization diagnostic imaging complications pathology MeSH
- Retinal Drusen diagnostic imaging classification pathology MeSH
- Retinal Hemorrhage diagnostic imaging etiology MeSH
- Retinal Pigment Epithelium pathology MeSH
- Rupture diagnostic imaging etiology pathology MeSH
- Wet Macular Degeneration diagnostic imaging pathology MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Angiography classification methods MeSH
- Diagnostic Techniques, Ophthalmological * classification MeSH
- Fluorescence MeSH
- Indocyanine Green therapeutic use MeSH
- Humans MeSH
- Macular Degeneration * diagnosis etiology MeSH
- Choroidal Neovascularization diagnostic imaging MeSH
- Tomography, Optical Coherence history methods MeSH
- Optical Imaging MeSH
- Retina diagnostic imaging pathology MeSH
- Artificial Intelligence MeSH
- Visual Acuity physiology MeSH
- Visual Perception MeSH
- Vision Tests history classification methods MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Biosimilar Pharmaceuticals classification therapeutic use MeSH
- Antibodies, Monoclonal, Humanized administration & dosage classification adverse effects MeSH
- Intravitreal Injections nursing MeSH
- Clinical Studies as Topic MeSH
- Low-Level Light Therapy MeSH
- Humans MeSH
- Macular Degeneration * drug therapy therapy MeSH
- Choroidal Neovascularization diagnosis pathology MeSH
- Drug-Related Side Effects and Adverse Reactions epidemiology classification MeSH
- Ranibizumab administration & dosage MeSH
- Vascular Endothelial Growth Factors antagonists & inhibitors physiology classification MeSH
- Treatment Outcome MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
- MeSH
- Geographic Atrophy epidemiology etiology MeSH
- Intravitreal Injections adverse effects MeSH
- Clinical Studies as Topic MeSH
- Humans MeSH
- Macular Degeneration * drug therapy MeSH
- Choroidal Neovascularization etiology pathology MeSH
- Drug-Related Side Effects and Adverse Reactions MeSH
- Intraocular Pressure drug effects MeSH
- Risk Factors MeSH
- Vascular Endothelial Growth Factors antagonists & inhibitors MeSH
- Check Tag
- Humans MeSH
- MeSH
- Bruch Membrane pathology MeSH
- Phagocytosis MeSH
- Humans MeSH
- Lipofuscin biosynthesis physiology adverse effects MeSH
- Macula Lutea * pathology MeSH
- Macular Degeneration * immunology physiopathology pathology MeSH
- Choroidal Neovascularization physiopathology MeSH
- Oxidative Stress physiology MeSH
- Cell Proliferation physiology MeSH
- Retinal Drusen pathology MeSH
- Retinal Pigment Epithelium cytology pathology MeSH
- Aging physiology MeSH
- Age Factors MeSH
- Check Tag
- Humans MeSH
- Publication type
- Review MeSH
Cíl: Analýza přítomnosti choroidální neovaskularizace (CNV) pomocí optické koherenční tomografické angiografie (OCTA) u očí léčených fotodynamickou terapií v redukovaném dávkovacím režimu (HD-PDT, poloviční dávka verteporfinu) pro chronickou formu centrální serózní chorioretinopatie (cCSC). Metodika a soubor: Retrospektivní zhodnocení OCTA nálezů 54 očí 52 pacientů léčených pro cCSC pomocí HD-PDT. Vyšetření OCTA bylo provedeno na přístroji Angioplex Zeiss Cirrus 5000 (Carl Zeiss Meditec, Dublin, CA, USA) 1 rok po provedení HD-PDT k verifikaci změn typických pro cCSC. Analýzou výsledků tohoto vyšetření jsme hodnotili zejména přítomnost či nepřítomnost konkomitující CNV a korelaci přítomné CNV s průměrnou výslednou nejlépe korigovanou zrakovou ostrostí (NKZO). Výsledky: Analyzovali jsme OCTA nálezy 54 očí (52 pacientů), u nichž jsme v případě 19 očí prokázali přítomnost konkomitující CNV (35,2 %). Prokázaná CNV se v 82 % vyskytovala pod undulující hyperreflexivní linií RPE. U očí s výskytem CNV byla průměrná NKZO (72 písmen ETDRS) statisticky signifikantně nižší než u pacientů bez CNV (82,7 písmen ETDRS) (p = 0,0179). Závěr: V našem retrospektivním hodnocení souboru pacientů, kteří podstoupili HD-PDT pro cCSC, jsme 1 rok po léčbě prokázali pomocí OCTA přítomnou CNV v 35,2 %. Domníváme se, že přítomná CNV typu I je spíše komplikací samotného chronického onemocnění než nežádoucím účinkem HD-PDT.
Purpose: Analysis of the presence of choroidal neovascularization (CNV) by optical coherence tomography angiography (OCTA) in eyes treated with photodynamic therapy in a reduced dosing regimen (HD-PDT, half dose of verteporfin) for the chronic form of central serous chorioretinopathy (cCSC). Materials and methods: Retrospective evaluation of OCTA findings in 54 eyes of 52 patients treated for cCSC with HD-PDT. OCTA was performed on Angioplex Zeiss Cirrus 5000 (Carl Zeiss Meditec, Dublin, CA, USA) 1 year after HD-PDT to verify changes typical of cCSC. By analyzing the results of this examination, we evaluated in particular the presence or absence of concomitant CNV and the correlation of the present CNV with the average resulting best corrected visual acuity (BCVA). Results: We analyzed the OCTA findings of 54 eyes (52 patients), in which we demonstrated the presence of concomitant CNV in 35 eyes (35.2 %). Revealed CNV occurred in 82 % below the undulating hyperreflective RPE line. In eyes with CNV, the mean BCVA (72 letters ETDRS) was statistically significantly lower than in eyes without CNV (82.7 letters ETDRS) (p = 0.0179). Conclusion: In our retrospective evaluation of a group of patients who underwent HD-PDT for cCSC, we demonstrated with OCTA the presence of CNV in 35.2 % eyes 1 year after the treatment. We believe that the presence of type I CNV is a complication of the chronic disease itself rather than an adverse effect of HD-PDT.
