Retinal Cases and Brief Reports最新文献

Purpose: To report on the venous abnormalities of a patient with Sturge-Weber syndrome.

Method: Case report.

Patient: A 29-year-old woman with a history of Sturge-Weber syndrome since infancy was referred for evaluation of possible diffuse choroidal hemangioma. Multimodal imaging, including ultra-widefield fluorescein, indocyanine green, and optical coherence tomography angiography, was performed.

Results: Dilated fundus examination was remarkable for increased cupping of the optic disk in the right eye, venous tortuosity, and marked dilation of the choroidal vessels. Ultra-widefield fluorescein angiography confirmed marked venous tortuosity and dilation, as well as anastomoses of the retinal veins ipsilateral to the port wine stain. Indocyanine green angiography revealed marked engorgement of the vortex veins and choroidal vasculature. Optical coherence tomography angiography revealed dilated vascular channels in the deep capillary plexus that were directly anastomosing to the superficial capillary plexus, but not the intermediate capillary plexus. Engorgement of the ampullae of the deep capillary plexus vortex system was also observed. The normal contralateral eye was used as comparison for all imaging studies.

Conclusion: These findings support the notion of generalized venous hypertension state in adult eyes with Sturge-Weber syndrome and corroborate previous evidence that the deep capillary plexus acts as a venous outflow system.

Purpose: To report two cases of persistent macular edema caused by the exudation of diabetic telangiectatic capillaries (TelCaps), which have been successfully treated with photodynamic therapy (PDT).

Methods: Review of data from two patients suffering from persistent macular edema caused by parafoveolar TelCaps. In both cases, conventional laser was impossible because TelCaps were to close from foveal center.

Results: The use of focal PDT on perifoveolar TelCaps permitted to reduce persistent macular edema and to avoid inefficient intravitreal anti-vascular epithelial growth factor or steroid injections. In both cases, visual acuity was fully restored four to six months after PDT. Central macular thickness was also normalized in the first case and significantly reduced in the second case. In both cases, visual gain was sustained throughout the whole follow-up period (2 and 1 year, respectively).

Conclusion: Photodynamic therapy can be helpful to treat diabetic macular edema caused by TelCaps nonresponding to approved intravitreal therapy or for which conventional laser is contraindicated.

Purpose: To report a case of bilateral retinal hemorrhages in a patient undergoing two separate endovascular interventions for bilateral cerebral aneurysms.

Methods: A comprehensive ophthalmic examination was performed after the patient underwent each of two separate endovascular interventions for bilateral cerebral aneurysms. Multimodal imaging including widefield pseudocolor fundus photography, optical coherence tomography, and widefield fluorescein angiography was obtained. A systemic workup including genetic testing and hypercoagulability studies was performed.

Results: Dilated fundus examination revealed new visually significant ipsilateral retinal hemorrhages after each endovascular procedure. Fluorescein angiography showed evidence of a peripheral retinal microangiopathy present in both eyes before the patient underwent her second endovascular procedure. Systemic workup revealed persistently elevated serum anticardiolipin IgM antibody levels at >99th percentile.

Conclusion: Retinal complications after endovascular intracranial interventions are uncommon. This patient who developed bilateral retinal complications was found to have persistently elevated anticardiolipin antibody levels, a risk factor for thrombosis. Patients who develop retinal complications after endovascular intracranial intervention may benefit from systemic workup for hypercoagulable conditions.

Purpose: To describe the outcomes from treatment of macular neovascularization in an eye affected by late-onset retinal degeneration.

Methods: A 72-year-old female patient presented with a history of decreased vision since several years. The patient was previously diagnosed with age-related macular degeneration and treated with anti-vascular endothelial growth factors.

Results: Clinical examination of the retina and ultra-widefield color fundus photographs showed extensive atrophy in both eyes. The left eye showed macular neovascularization on fluorescein angiography, subretinal fluid on optical coherence tomography, and correspondent hemorrhages on the color fundus photography. Aflibercept anti-vascular endothelial factor treatment was used to treat the macular neovascularization in the left eye.

Conclusion: We report a case of genetically confirmed late-onset retinal degeneration (heterozygous pathogenic mutation p.Ser163Arg in one C1QTN5 allele) with advanced degeneration of the retina complicated by macular neovascularization, which responded well to treatment with a single aflibercept injection.

Purpose: To resport a case of panuveitis after light adjustable intraocular lens (LAL) implantation and ultraviolet (UV) light treatment.

Methods: Case report.

Results: A 68-year-old woman with a history of herpes zoster without ocular involvement presented with panuveitis in her right eye two weeks after a UV light lock-in treatment for a recently implanted LAL. An infectious and inflammatory workup was only notable for positive HSV-1 and VZV IgG, but the patient did not have any history of ocular HSV or VZV. Over the course of five months, the panuveitis resolved completely with topical steroids and the patient had a good visual outcome.

Conclusion: Though causality cannot be established in this case, physicians should be aware of the possibility of uveitis after UV light treatments. Extra caution should be observed in patients with history of herpetic disease.

Purpose: This case report details the diagnosis and management of a pre-term infant with aggressive bilateral retinal pathology.

Methods: A 4-week-old preterm baby girl, born at 28 weeks and 6 days to consanguineous parents, was referred for suspected aggressive posterior retinopathy of prematurity (ROP). She had a family history of bilateral retinal detachments and intellectual disability in an older sister. Clinical assessment included retinal examination, fluorescein angiography, optical coherence tomography, dual-energy X-ray absorptiometry (DEXA), and genetic testing. The genetic testing involved sequence analysis and copy number variation analysis of 25 genes related to vitreoretinopathy.

Results: Retinal examination and fluorescein angiography revealed extensive non-perfusion and telangiectatic vessels in both eyes, and a macula-involving tractional retinal detachment in the left eye. Despite treatment with intravitreal bevacizumab and laser photocoagulation, they progressed to total retinal detachment and no light perception in both eyes. Genetic testing revealed a pathogenic homozygous nonsense mutation in the LRP5 gene (c.3259C>T, p.(Gln1087*)), a mutation not previously reported in association with familial exudative vitreoretinopathy (FEVR). At 10 months of age, DEXA demonstrated normal bone density, diverging from the typical presentation of osteoporosis pseudoglioma syndrome associated with LRP5 mutations.

Conclusion: This case describes a novel mutation in a complex retinal disease and underscores the necessity of considering pre-term FEVR in the differential diagnosis of atypical or aggressive ROP in preterm infants. The overlap in clinical features between ROP and FEVR highlights the complexity of diagnosis and management and the importance of genetic testing in preterm infants with retinal vascular abnormalities.

Purpose: To report a case of central retinal artery and common carotid artery occlusions following COVID-19 infection in a young female with no other risk factors.

Methods: Retrospective analysis of the medical notes of a patient hospitalized with COVID 19 infection at University Hospital Southampton.

Results: The patient was found to have dural venous sinus thrombosis and an acute infarct within the right parietal lobe. There was an occlusive thrombus within the right common carotid artery. Subsequently she was found to have a right central artery occlusion secondary to the right common carotid artery occlusion.

Conclusion: COVID-19 infection can cause retinal artery occlusion via systemic thrombosis in previously healthy patients.

Purpose: To describe the clinical and multimodal imaging (MMI) features of a family (proband, sister and mother) with A3243G mitochondrial retinopathy and long-term follow up.

Methods: Medical and imaging records were retrospectively evaluated. Multimodal imaging included ultra-widefield color fundus photography, fundus autofluorescence, and spectral-domain optical coherence tomography. Long-term MMI follow up ranged from 6 to 15 years and was available for each member.

Results: The proband (Case 1) exhibited rapidly progressive bilateral macular atrophy, corneal endothelial polymegathism, and an A3243G mutation in the mitochondrial DNA. The proband also endorsed a history of early-onset myocardial infarction (MI) ten years prior at the age of 42. The proband's sister (Case 2) only exhibited unilateral focal macular atrophy but admitted to a history of severe multiorgan systemic disease, including multiple sclerosis and major depression disorder. The proband's mother (Case 3), the only one with diabetes mellitus and hearing loss, originally presented with branch retinal vein occlusion in the right eye and pattern dystrophy in the left eye which evolved to geographic atrophy, OD > OS, 15 years later.

Conclusion: A3243G mitochondrial syndrome can exhibit heterogenous ocular and systemic features, even within members of the same family. The development of the characteristic maculopathy with early-onset MI warrants genetic testing. Early cardiac and systemic screening may be recommended in individuals with characteristic retinal findings and genetic confirmation.

Purpose: To describe a case of choroidal detachment (CD) secondary to cavernous sinus thrombosis (CST).

Methods: Case report.

Results: A 73-year-old male with a history of primary open angle glaucoma and pseudophakia presented with retrobulbar pain, blurred vision, and diplopia of the right eye. Exam revealed severe non-hemorrhagic bullous chemosis, tortuous retinal vessels, and elevated intraocular pressure (IOP) in the right eye. Although computed tomography venography findings initially raised suspicion of a carotid-cavernous fistula (CCF), the diagnostic angiogram showed no such evidence, instead raising concern for cavernous sinus thrombosis (CST). Dilated fundus exam and MRI were notable for multiple serous choroidal detachments in the right eye, which resolved with systemic management of CST and topical steroids.

Conclusion: The possibility of choroidal detachment during the clinical course of a CST should be recognized. CST may be related to impaired venous drainage that forces transudate into perivascular spaces and results in choroidal effusion.

Purpose: To discuss the diagnosis and management of a rare case of endogenous endophthalmitis (EE) caused by Paenibacillus lautus mimicking granulomatous uveitis in a child, highlighting the use of 16S rRNA gene amplicon sequencing as an accurate method to identify rare pathogens.

Method: A retrospective chart review of the clinical presentation, microbiologic workup-including microscopy, culture, antibiotic susceptibility, and polymerase chain reaction for pathogen DNA of clinical samples-and the clinical management of the case were recorded.

Result: A 13-year-old boy presented with decreased vision in the right eye for one month. On examination, he had uveitis with hypopyon and complicated cataract. The case underwent an anterior chamber tap followed by vitrectomy and lensectomy. The culture of the vitreous aspirate grew Gram-variable bacilli that could not be identified by conventional microbiological techniques. However, PCR-based sequencing of the 16S rRNA gene was performed, and the bacterium was identified as P. lautus. The patient subsequently developed rhegmatogenous retinal detachment, for which he underwent endo laser photocoagulation and oil tamponade. Four months later, silicone oil was removed, and an intraocular lens was implanted. At six weeks follow-up, the retina remained well attached, and intraocular pressure was maintained.

Conclusion: P. lautus can cause EE and mimic granulomatous uveitis. Techniques such as 16S rRNA gene sequencing can significantly facilitate aetiological diagnosis in cases where conventional methods fail.