Ophthalmologic Features Research Articles

Ophthalmologic Clinical Features of Facial Nerve Palsy Patients.

PurposeTo understand the ophthalmic clinical features and outcomes of facial nerve palsy patients who were referred to an ophthalmic clinic for various conditions like Bell's palsy, trauma, and brain tumor.MethodsA retrospective study was conducted of 34 eyes from 31 facial nerve palsy patients who visited a clinic between August 2007 and July 2017. The clinical signs, management, and prognosis were analyzed.ResultsThe average disease period was 51.1 ± 20.6 months, and the average follow-up duration was 24.0 ± 37.5 months. The causes of facial palsy were as follows: Bell's palsy, 13 cases; trauma, six cases; brain tumor, five cases; and cerebrovascular disease, four cases. The clinical signs were as follows: lagophthalmos, 24 eyes; corneal epithelial defect, 20 eyes; conjunctival injection, 19 eyes; ptosis, 15 eyes; and tearing, 12 eyes. Paralytic strabismus was found in seven eyes of patients with another cranial nerve palsy (including the third, fifth, or sixth cranial nerve). Conservative treatments (like ophthalmic ointment or eyelid taping) were conducted along with invasive procedures (like levator resection, tarsorrhaphy, or botulinum neurotoxin type A injection) in 17 eyes (50.0%). Over 60% of the patients with symptomatic improvement were treated using invasive treatment. At the time of last following, signs had improved in 70.8% of patients with lagophthalmos, 90% with corneal epithelium defect, 58.3% with tearing, and 72.7% with ptosis. The rate of improvement for all signs was high in patients suffering from facial nerve palsy without combined cranial nerve palsy.ConclusionsThe ophthalmic clinical features of facial nerve palsy were mainly corneal lesion and eyelid malposition, and their clinical course improved after invasive procedures. When palsy of the third, fifth, or sixty cranial nerve was involved, the prognosis and ophthalmic signs were worse than in cases of simple facial palsy. Understanding these differences will help the ophthalmologist take care of patients with facial nerve palsy.

Clinical, ophthalmological, imaging and genetic features in Brazilian patients with ARSACS

BackgroundAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an important form of inherited ataxia with a varied clinical spectrum. Detailed studies of phenotype and genotype are necessary to improve diagnosis and elucidate this disorder pathogenesis. OBJECTIVE AND METHODS: To investigate the clinical phenotype, retinal architecture, neuroimaging features and genetic profile of Brazilian patients with ARSACS, we performed neurological and ophthalmological evaluation in thirteen Brazilian patients with molecularly confirmed ARSACS, and examined their mutation profiles. Optical coherence tomography protocol (OCT) consisted in peripapillary retinal nerve fiber layer (RNFL) measurement and qualitative analysis of perifoveal scans. Neuroimaging protocol accessed the frequency of atrophy in cerebellum, corpus callosum and parietal lobe, brainstem signal abnormalities, and posterior fossa arachnoid cysts. We reviewed the literature to delineate the ARSACS phenotype in the largest series worldwide. RESULTS: All patients had ataxia and spasticity, and 11/13 had peripheral neuropathy. Macular microcysts were present in two patients. Peripapillary striations, dentate appearance of inner retina and papillomacular fold were found in eleven cases. All individuals exhibited thickening of RNFL in OCT. The most frequent radiological signs were cerebellar atrophy (13/13), biparietal atrophy (12/13), and linear pontine hypointensities (13/13). Genetic analysis revealed 14 different SACS variants, of which two are novel. CONCLUSION: Macular microcysts, inner retina dentate appearance and papillomacular fold are novel retinal imaging signs of ARSACS. Ophthalmological and neuroimaging changes are common findings in Brazilian patients. The core clinical features of ARSACS are ataxia, spasticity and peripheral neuropathy with onset predominantly in the first decade of life.

Associations of cytokine concentrations in aqueous humour with retinal vascular abnormalities and exudation in Coats’ disease

To investigate the associations of cytokine concentrations in aqueous humour with the severity of retinal vascular abnormalities, exudation and fibrosis in patients with Coats' disease. Aqueous humour samples were collected in 23 paediatric patients (23 eyes) with Coats' disease and six age-matched control patients (six eyes) with congenital cataract in this cross-sectional, case-control study. Through Cytometric Bead Array technology, six angiogenic, inflammatory and fibrotic cytokines were measured for their concentrations in aqueous humour. Ophthalmologic characteristics including retinal vessel abnormalities, exudation and fibrosis of Coats' disease were also clinically evaluated for analysis. The aqueous levels of vascular endothelial growth factor (VEGF) (p=0.006) and monocyte chemoattractant protein-1 (MCP-1) (p<0.001) were significantly higher in the Coats' disease group than in the control group. The concentrations of angiogenin were peaked in eyes with first-grade vessels tortuosity (p<0.001), and also positively correlated with the severity of retinal capillary abnormalities (r=0.910, p<0.001). The concentrations of MCP-1 (r=0.966, p<0.001) and VEGF (r=0. 765, p=0.002) were significantly correlated with the extent of retinal exudation. The aqueous humour transforming growth factor-β (TGFβ) concentrations were higher in eyes with retinal fibrosis than in non-fibrotic eyes with Coats' disease (p=0.004). In Coats' disease, angiogenin may act as a potential biomarker for retinal vascular abnormalities. The concentrations of VEGF and MCP-1 may positively correlate with the severity of retinal exudation.

Gillespie syndrome in a South Asian child: a case report with confirmation of a heterozygous mutation of the ITPR1 gene and review of the clinical and molecular features

BackgroundGillespie syndrome is a rare, congenital, neurological disorder characterized by the association of partial bilateral aniridia, non-progressive cerebellar ataxia and intellectual disability. Homozygous and heterozygous pathogenic variants of the ITPR1 gene encoding an inositol 1, 4, 5- triphosphate- responsive calcium channel have been identified in 13 patients recently. There have been 22 cases reported in the literature by 2016, mostly from the western hemisphere with none reported from Sri Lanka.Case presentationA 10-year-old girl born to healthy non-consanguineous parents with delayed development is described. She started walking unaided by 9 years with a significantly unsteady gait and her speech was similarly delayed. Physical examination revealed multiple cerebellar signs. Slit lamp examination of eyes revealed bilateral partial aniridia. Magnetic resonance imaging of brain at the age of 10 years revealed cerebellar (mainly vermian) hypoplasia. Genetic testing confirmed the clinical suspicion and demonstrated a heterozygous pathogenic variant c.7786_7788delAAG p.(Lys2596del) in the ITPR1 gene.ConclusionThe report of this child with molecular confirmation of Gillespie syndrome highlights the need for careful evaluation of ophthalmological and neurological features in patients that enables correct clinical diagnosis. The availability of genetic testing enables more accurate counseling of the parents and patients regarding recurrence risks to other family members.

Early ophthalmologic features of Parkinson's disease: a review of preceding clinical and diagnostic markers.

Non-motor symptoms in Parkinson's disease are an important cause of morbidity and may even precede the onset of the motor features of the disease. Visual abnormalities are among the most frequent non-motor symptoms observed during the early stages of the disease. Some of the visual symptoms of Parkinson's disease can likely be explained by the presence of dopaminergic neurons within the retina, where the progressive loss of dopamine and the accumulation of α-synuclein within the retinal layers leads to visual dysfunction, while some are caused by abnormalities in cortical visual processing. Many of these visual symptoms can be overlooked or go unrecognized. We review the visual symptoms in Parkinson's disease, including visual-processing and ocular motility abnormalities, stereopsis deficits, and visual hallucinations, focusing on the early stages of the disease. We focus on the reciprocal influence between the visual symptoms and the progression of the disease, analyzing the influence of dopaminergic therapy on the visual abnormalities. Finally, we discuss the possible role of some of these visual symptoms as possible markers or early diagnostic signs of the disease.

Is hiragana decoding impaired in children with periventricular leukomalacia?

BackgroundThere are few studies on hiragana reading skill and phonological awareness in Japanese schoolchildren with periventricular leukomalacia (PVL). MethodsThree seven-year-old children with PVL who had no intellectual disabilities or dysarthria were recruited. Their perinatal information, brain magnetic resonance image (MRI) at term equivalent age, accompanying neurodevelopmental disorders, ophthalmologic features, Kaufman Assessment Battery for Children (K-ABC), a hiragana reading test (four tasks), and a phonological awareness task (mora reversal tasks) were analyzed. ResultsPatient (Pt) 1 and pt2 were male. Pt2 and pt3 were siblings of triplets. Their gestational age was 28 or 32 weeks, and their birth weights were 1196, 1554, and 1848 g, respectively. Their brain MRI revealed cystic or non-cystic periventricular white matter injury involving the deep white matter at the trigone of both lateral ventricles. Pt1 had attention-deficit/hyperactivity disorder and pt3 had pervasive developmental disorder not otherwise specified. All patients had strabismus with spared best-corrected visual acuity. Scores of Reading/Decoding in K-ABC ranged from 89 to 99. As for the single mora reading task or the non-word reading task in the kana reading test, Z scores of their reading time ranged from 2.3 to 5.9 compared to control children. Pt1 and pt3 made significant errors in the mora reversal task of three-mora words, whereas all patients could answer all words correctly in the mora reversal task of two-mora words. ConclusionAll children showed significantly prolonged reading time despite their adequate letter recognition. Two patients showed delayed phonological awareness. It was suggested that hiragana decoding impairment due to subcortical and/or cortical injury related to PVL affected their reading ability.

Association of T and B Cells Infiltrating Orbital Tissues With Clinical Features of Graves Orbitopathy

Graves orbitopathy (GO) responds to immunosuppressive treatments when clinically active but poorly when inactive. In other autoimmune diseases, response has been ascribed to a reduction in lymphocytes infiltrating the target organ. It is not known whether active vs inactive GO differs in this regard, which would help in understanding the link between GO immunologic features and clinical behavior. To investigate the association between orbital lymphocytic infiltrate and GO clinical features. A cohort study aimed at assessing the extent and immunohistochemical phenotype of orbital lymphocytes and associating it with the ophthalmologic features of GO, especially its clinical activity score (CAS), was conducted at a tertiary referral center. Twenty consecutive patients with GO who underwent orbital decompression were included. The study was conducted from January 1 to May 31, 2017. Orbital tissue histology and immunohistochemistry testing as well as ophthalmologic evaluation. Association between CAS and orbital lymphocytes, analyzed as total number of lymphocytes and main lymphoid subsets. The patient population included 8 men and 12 women, all of white race, with a mean (SD) age of 46 (13) years. With an established cutoff value of 300 lymphoid cells per tissue sample, lymphocytes above this value were found in orbital tissues of 9 of 20 patients (45%), often organized into distinct foci. The lymphocytes comprised a mixture of T (CD3-positive) and B (CD20-positive) cells, suggesting a mature, polyclonal autoimmune response. In a simple linear regression model, the total number of lymphocytes, as well as the number of CD3- and CD20-positive subsets, correlated with CAS (R = 0.63; 95% CI, 0.27-0.84; P = .003; R = 0.59; 95% CI, 0.20-0.82; P = .006; and R = 0.65; 95% CI, 0.30-0.85; P = .002, respectively). In a multiple linear regression model, lymphocytes maintained their effect on CAS when adjusted for 2 additional variables that were correlated with CAS-smoking and GO duration-highlighting even more the important role of orbital lymphocytes in affecting CAS (total number: R = 0.58; 95% CI, 0.18-0.82; P = .01; CD3-positive: R = 0.58; 95% CI, 0.17-0.82; P = .01; and CD20-positive: R = 0.59; 95% CI, 0.19-0.83; P = .01). This study shows a correlation between T and B lymphocytes infiltrating orbital tissues and the activity of GO, possibly enhancing our understanding of the association between GO immunologic features and clinical expression.

Characterization of The Brazilian ARSACS Phenotype: Clinical, Ophthalmological, Neuroimaging, and Genetic Features of Fourteen Cases. (P1.061)

Characterization of The Brazilian ARSACS Phenotype: Clinical, Ophthalmological, Neuroimaging, and Genetic Features of Fourteen Cases. (P1.061)

Evaluation of patients with orbital infections.

Orbital tissue infections are common infections of childhood that can lead to severe complications. Herein, we aimed to evaluate the etiologic factors, diagnosis, follow-up, and treatment procedures in pediatric patients with orbital infections. This study was performed retrospectively between January 2014 and December 2015 in Cerrahpasa Medical Faculty Pediatric Infectious Disease Unit. Patients were studied for age, ophthalmologic examination features, laboratory and radiology results, treatment modalities, and the response to these treatments. Thirty-six patients (21 males, 15 females) with an average age of 71.43±42.24 months (5-168 months) participated in the study in the two-year period. Thirty-two patients (88.9%) had preseptal cellulitis, and four (11.9%) had orbital cellulitis. All patients had eyelid hyperemia, edema, and ocular pain, with chemosis in seven and proptosis in four cases. Twenty-five patients were admitted with fever. All cases were unilateral and 44.4% occurred secondary to paranasal sinusitis. All cases were treated with intravenous cefazolin-amikacin. The mean of duration of hospitalization was 12.02±8.75 days (range, 3-28 days) and the duration of parental antibiotics was 12.83±8.18 days (range, 7-21 days). All patients recovered without any vision loss, only one patient experienced subdural empyema complicating preseptal cellulitis. Most orbital tissue infections occur secondary to paranasal sinusitis in childhood. Orbital tissue infections can be complicated by brain abscess, cavernous sinus thrombophlebitis, and vision loss. Early diagnosis and proper antibiotic treatment are essential to prevent these life-threatening complications.

Intraocular metastasis: Comparison of clinical presentation with a known and unknown primary tumour

Abstract Objective The purpose of the present study is to review the frequency of intraocular metastases as first presentation of systemic disease, and to identify clinical and tumour characteristics. Methods Retrospective study of consecutive cases diagnosed of intraocular metastasis at a referral intraocular tumours unit between 1993 and 2014. General, epidemiological and ophthalmological characteristics were recorded. Results A total of 21 patients, with a mean age 62.7 years (31–89) were diagnosed with intraocular metastasis between 1993 and 2014. Both eyes were affected in 4 cases. Location was choroid in 20 cases. The intraocular tumour was the first manifestation of the systemic disease in 13 patients (61.9%). Primary tumour was breast in 47.6% and lung in 23.8%. Diagnosis of the primary tumour was performed by systemic studies, and only 1 patient required intraocular biopsy. Regarding the treatment, the majority of cases were controlled with systemic therapy, with 4 cases requiring additional external beam radiotherapy, and only one enucleation. No clinical differences were found between the cases with known and unknown systemic neoplasia, except in exudative retinal detachment, which was more frequent in the second group. Conclusions Although intraocular metastases are the most frequent intraocular tumour, they are not a frequent cause of consultation. In more than half of the cases it is the first presentation of unknown systemic neoplasia as a solitary non-pigmented intraocular mass. Early diagnosis is crucial to establish the appropriate treatment, preserve visual function, and improve the prognosis of the patient.

Ocular Findings of Cryptococcal Meningitis in HIV-AIDS Patients

Purpose: To describe the ophthalmological characteristics, clinical course and visual prognosis of HIV-AIDS patients with cryptococcal meningitis. Methods: Retrospective study conducted in HIV-AIDS diagnosed outpatients treated at Dos de Mayo Hospital, from 2004 to 2014. Descriptive statistics were obtained for age, gender, associated diseases, CD4 T cell counts, antiretroviral therapy (ART), cryptococcal meningitis symptoms, relapses and visual complaints data. Diagnosis was based in CSF analysis, Chinese dye and culture. CSF opening pressure was recorded. Descriptive statistics were performed. Results: 18 cases were studied. 16 men and 2 women. The range of age was 24 - 51 and median 33 years. Three patients had been treated with ART. Tuberculosis was the most frequent associated disease IN 5 cases (27.8%). Cryptoccocal meningitis relapses were present in 5 (27.8%). CD4 count below 50 was the most prevalent in 11 (61%). Thirteen had ocular symptoms, low visual acuity was present in the half of cases and diplopia in 2 (11.1%). 13 (72.2%) coursed with headache. In eleven cases, the CSF opening pressures had been reported, and the range was 18 - 350 mm H2O, mean 67-6. CSF culture was obtained in 11 patients, it was positive in 7 (38.9%). Indian ink was positive in 16 (88.9%). Conclusion: There was no blindness related with cryptococcal meningitis despite the higher values of CSF opening pressure reported.

Xeroderma pigmentosum is a definite cause of Huntington's disease-like syndrome.

Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and neurological features. Although it is typical of childhood, late presentations can mimic different neurodegenerative conditions. We report two families presenting as Huntington's disease‐like syndromes. The first case (group G) presented with neuropsychiatric features, cognitive decline and chorea. Typical lentigines were only noticed after the neurological disease started. The second case (group B) presented adult‐onset chorea and neuropsychiatric symptoms after an aggressive ocular melanoma. Xeroderma pigmentosum can manifest as a Huntington's Disease‐like syndrome. Classic dermatological and oncological features have to be investigated in choreic patients with negative genetic tests for Huntington's disease‐like phenotypes.

Spectrum of retinal abnormalities in renal transplant patients using chronic low-dose steroids

PurposeTo assess the ophthalmological characteristics of asymptomatic patients with a renal transplant on chronic low-dose steroids for at least the last 2 years prior to examination.MethodsCross-sectional study. All patients underwent an extensive ophthalmological examination.ResultsOf the 37 included patients [25 male, 12 female; 59 ± 11 years (range, 38–77 years)] ophthalmological phenotyping revealed abnormalities in 22 patients (59%). Findings characteristic for (subclinical) central serous chorioretinopathy were detected in ten patients (27%), including two patients with serous subretinal fluid in the macula. An epiretinal membrane of the macula was present in six patients (16%). Mean subfoveal choroidal thickness was significantly increased in patients with ophthalmological abnormalities, in comparison with patients without abnormalities.ConclusionsRetinal abnormalities are common in the majority of renal transplant patients using chronic low-dose steroids. These retinal changes may be associated with the renal disease and/or the effect of chronic steroid use on the choroid and retina.

Ocular features of multiple system atrophy

The aim of this paper is to gain better understanding of the ocular manifestations of multiple system atrophy (MSA), a neurodegenerative disorder rarely studied in terms of its ophthalmologic features. We performed a retrospective case series (1/1/05–12/31/14) to search for patients seen at Mayo Clinic, Rochester, MN, who had mention of MSA in the medical record and an eye examination, which yielded 285 cases. Of the 285, we identified 39 cases of true MSA. Each of these 39 patients was further reviewed for ocular abnormalities potentially related to MSA. Ocular findings potentially attributable to MSA were found in 64% of patients. Most common were dry eye (N = 14), conjugate eye movement abnormalities (N = 13), and ocular misalignment (N = 7). One patient had dry eye and monocular diplopia from trichiasis due to cicatricial pemphigoid, one had bilateral optic atrophy, and one had Adie’s tonic pupil. Conjugate eye movement abnormalities (33%) and ocular misalignment (18%) were more common in patients with MSA-C. Patients with ocular findings, excluding dry eye, had a significantly shorter lifespan from time of initial neurologic symptoms to death. Our study confirms conjugate eye movement abnormalities and misalignment are common ocular findings in patients with MSA. Bilateral optic atrophy and cicatricial pemphigoid are possibly attributable to the disease. Ocular manifestations in MSA predict a poor prognosis as these patients have a significantly shorter lifespan. Therefore, we recommend patients with MSA have a comprehensive neuro-ophthalmologic exam at time of diagnosis, and thereafter, to screen for eye findings that may indicate a shorter lifespan.

A cohort study of multiple families with FBN1 p.R650C variant, ectopia lentis, and low but not absent risk for aortopathy.

Marfan syndrome is a multisystem disease with cardiovascular, ophthalmologic, and skeletal features. Diagnosis is made clinically with emphasis on presence of aortic root dilation and ectopia lentis (EL). Most individuals meeting these criteria have a pathogenic variant in FBN1, usually unique or observed rarely. Individuals with EL alone may also have FBN1 pathogenic variants, and the risk for aortic disease is not well known. We identified a unique cohort of 31 individuals (mean age 29, range 2-78) from nine families ascertained by a proband with EL alone, who had the same FBN1 p.R650C variant. Comparison was made to individuals with Marfan syndrome (n = 103 from 97 families) at our institution. Those with the p.R650C variant had few skeletal features of Marfan syndrome. Age of onset of EL was later compared to others with cysteine variant changes. Aortic root dilation occurred in 4/16 (25%) of the p.R650C group versus 71/83 (86%) in the comparator group (p < 0.001) and dissection or replacement in 1/31 (3%) versus 20/103 (19%; p < 0.04). Aortic root Z scores were much lower in the p.R650C (0.34 ± 1.70) versus the comparator (2.99 ± 2.54; p < 0.0002). Kaplan-Meier failure curves for aortic root dilation demonstrated later age of onset and differed significantly for incidence rate ratio (comparator vs. p.R650C = 5.35, CI 1.84-21.17; p = 0.0001). Individuals with p.R650C predominantly have EL, but do have risk for aortic dilation at ages later than typical for Marfan syndrome in general and for cysteine changes specifically. Surveillance for aortic dilation is required but may occur less frequently.

Metástasis intraoculares: comparación entre las formas de presentación clínica con tumor primario conocido y desconocido

ObjectiveThe purpose of the present study is to review the frequency of intraocular metastases as first presentation of systemic disease, and to identify clinical and tumour characteristics. MethodsRetrospective study of consecutive cases diagnosed of intraocular metástasis at a referral intraocular tumours unit between 1993 and 2014. General, epidemiological and ophthalmological characteristics were recorded. ResultsA total of 21 patients, with a mean age 62.7 years (31-89) were diagnosed with intraocular metástasis between 1993 and 2014. Both eyes were affected in 4 cases. Location was choroid in 20 cases. The intraocular tumour was the first manifestation of the systemic disease in 13 patients (61.9%). Primary tumour was breast in 47.6% and lung in 23.8%. Diagnosis of the primary tumour was performed by systemic studies, and only 1 patient required intraocular biopsy. Regarding the treatment, the majority of cases were controlled with systemic therapy, with 4 cases requiring additional external beam radiotherapy, and only one enucleation. No clinical differences were found between the cases with known and unknown systemic neoplasia, except in exudative retinal detachment, which was more frequent in the second group. ConclusionsAlthough intraocular metastases are the most frequent intraocular tumour, they are not a frequent cause of consultation. In more than half of the cases it is the first presentation of unknown systemic neoplasia as a solitary non-pigmented intraocular mass. Early diagnosis is crucial to establish the appropriate treatment, preserve visual function, and improve the prognosis of the patient.

The visual system in infants with microcephaly related to presumed congenital Zika syndrome

To describe and analyze ocular features in infants with microcephaly due to presumed congenital Zika syndrome. Ophthalmologic evaluation, including indirect ophthalmoscopy and eye fundus imaging, visual acuity testing with Teller Acuity Cards, and strabismus assessment were performed in infants with microcephaly at a nongovernmental organization clinic for visually disabled children. A total of 70 infants with microcephaly were referred to the clinic. Of these, 25 (mean age, 3months; 14 males) had ophthalmologic changes: 18 (26%) had intraocular abnormalities, including macular chorioretinal atrophy, mottled retinal pigment epithelium and optic nerve pallor; 7 patients (10%) had strabismus or nystagmus without intraocular abnormalities. Visual acuity was below normal range in all 11 infants tested. Ophthalmologic abnormalities occurred in 36% of the patients. Macular circumscribed chorioretinal atrophy, focal mottled retinal pigment epithelium, optic nerve pallor, early-onset strabismus, nystagmus and low visual acuity were common ophthalmological features in infants with microcephaly due to presumed congenital Zika syndrome.

Late-onset Cogan's syndrome associated with large-vessel vasculitis

Cogan's syndrome is a rare autoimmune disease that usually affects young Caucasian adults and is classically defined as the combination of nonsyphilitic interstitial keratitis and audiovestibular symptoms resembling Meniere's disease, both of them developed in an interval of less than two years. Nevertheless, cases with atypical ophthalmologic and audiovestibular features, with systemic manifestations or affecting children and older patients have also been reported, expanding the clinical spectrum of Cogan's syndrome. Herein, we present the case of a late-onset Cogan's syndrome associated with a large-vessel vasculitis.

What are the phenotypes of Brazilian patients with autossomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)?: Neurological, ophthalmological and neuroimaging features of seven genetically confirmed cases. (N9.002)

What are the phenotypes of Brazilian patients with autossomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)?: Neurological, ophthalmological and neuroimaging features of seven genetically confirmed cases. (N9.002)

Characterization of isolated retinal vasculitis. Analysis of a cohort from a single center and literature review.

Isolated retinal vasculitis (IRV) is an inflammatory condition of unknown etiology confined to the retinal vessels. In contrast to secondary retinal vasculitis (RV), IRV has not been well characterized. To describe and characterize isolated forms of RV. We performed a retrospective review (2006-2016) of IRV patients from a multidisciplinary Uveitis Unit. RV diagnosis was based on funduscopic and fluorescein angiography findings. To distinguish between secondary RV and IRV, evaluations included clinical assessment, several inflammatory, autoimmune and microbiological laboratory markers, and a chest radiography. Ophthalmological features at disease onset, therapeutic interventions, ocular relapses, visual outcomes and laboratory findings were recorded. Our cases were subsequently compared with those from a literature review. Among 192 patients with RV, 11 (5.7%) were diagnosed with IRV. Seven patients with initially presumed IRV were reclassified as secondary after further evaluation. IRV generally affected adult women. Bilateral ocular involvement and retinal phlebitis were common findings. 72% of patients presented with visual loss, which was severe in 27%. Treatments used included systemic glucocorticoids (82%), additional immunosuppressive agents (27%), intravitreal therapy (37%), panretinal photocoagulation (37%) and pars plana vitrectomy (26%). The annual relapse rate was 0.46. Although final visual acuity was considered good in 86%, 45% experienced worsening and only 27% improved. IRV is a rare sight-threatening condition. Despite intensive local and systemic immunosuppressive treatment, visual improvement is observed in only 27% of cases. When IRV is suspected, a differential diagnosis excluding a systemic disease is always warranted. A multidisciplinary approach and a guided clinical, laboratory and imaging evaluation have proven to be useful to distinguish retinal single-organ vasculitis from secondary forms of RV.