Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach

Fox, Austin; Gordon, Lynn K.; Heckenlively, John R.; Davis, Janet L.; Goldstein, Debra A.; Lowder, Careen Y.; Nussenblatt, Robert B.; Butler, Nicholas J.; Dalal, Monica; Jayasundera, Thiran; Smith, Wendy; Lee, Richard W.; Adamus, Grażyna; Chan, Chi‐Chao; Hooks, John J.; Morgans, Catherine W.; Detrick, Barbara; Sen, H. Nida

doi:10.1016/j.ajo.2016.05.013

Cited by 99 publications

(136 citation statements)

References 13 publications

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“…[4, 9, 14] Our results are in full agreement with this statement. Proof for the definitive diagnosis of (n)pAIR is still missing and even the presence of ARAs is not specific for (n)pAIR, which has been illustrated by the finding of ARAs in control groups and healthy individuals.…”

Section: Discussionsupporting

confidence: 91%

“…The presence of ARAs was found in all our patients with presumed (n)pAIR and therefore all fulfilled the criteria for the diagnosis of (n)pAIR. [9]…”

Section: Discussionmentioning

confidence: 99%

“…In our present series we indicate the specific subtype(s) of AIR (pAIR, npAIR or (n)pAIR) to prevent any misunderstanding regarding nomenclature. [9] The diagnosis of presumed (n)pAIR was made if the patients fulfilled all of the following inclusion criteria: 1. visual complaints, 2. markedly decreased amplitudes on ERG, 3. visual field loss, and 4. no alternative explanation for their ocular disorder. In addition, patients with genetically proven retinitis pigmentosa or a family history of retinitis pigmentosa were excluded.…”

Section: Methodsmentioning

confidence: 99%

“…[8] Nevertheless, ARAs are considered to support the diagnosis of (n)pAIR, which is often difficult to confirm by clinical symptoms only. [9]…”

Section: Introductionmentioning

confidence: 99%

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Serum Autoantibody Profiling of Patients with Paraneoplastic and Non-Paraneoplastic Autoimmune Retinopathy

et al. 2016

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PurposeAlthough multiple serum antiretinal autoantibodies (ARAs) have been reported in patients with paraneoplastic and non-paraneoplastic autoimmune retinopathy ((n)pAIR), not all retinal antigens involved in (n)pAIR are specified. This study aims to serologically identify patients with presumed (n)pAIR through determination of both known and unknown ARAs by autoantibody profiling.MethodsAn antigen suspension bead array using 188 different antigens representing 97 ocular proteins was performed to detect ARAs in serum samples of patients with presumed (n)pAIR (n = 24), uveitis (n = 151) and cataract (n = 21). Logistic regressions were used to estimate the associations between ocular antigens and diagnosis. Validation of interphotoreceptor matrix proteoglycan 2 (IMPG2) and recoverin antigens was performed by immunohistochemistry and immunoblot, respectively.ResultsSamples of patients with presumed (n)pAIR exhibited a broad spectrum of ARAs. We identified retinal antigens that have already been described previously (e.g. recoverin), but also identified novel ARA targets. Most ARAs were not specific for (n)pAIR since their presence was also observed in patients with cataract or uveitis. High titers of autoantibodies directed against photoreceptor-specific nuclear receptor and retinol-binding protein 3 were more common in patients with presumed (n)pAIR compared to uveitis (p = 0.015 and p = 0.018, respectively). The presence of all other ARAs did not significantly differ between groups. In patients with presumed (n)pAIR, anti-recoverin autoantibodies were the most prevalent ARAs. Validation of bead array results by immunohistochemistry (anti-IMPG2) and immunoblot (anti-recoverin) showed concordant results in (n)pAIR patients.ConclusionsPatients with (n)pAIR are characterized by the presence of a broad spectrum of ARAs. The diagnosis of (n)pAIR cannot be based on the mere presence of serum ARAs, as these are also commonly present in uveitis as well as in age-related cataract patients.

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Section: Discussionsupporting

confidence: 91%

“…The presence of ARAs was found in all our patients with presumed (n)pAIR and therefore all fulfilled the criteria for the diagnosis of (n)pAIR. [9]…”

Section: Discussionmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

“…[8] Nevertheless, ARAs are considered to support the diagnosis of (n)pAIR, which is often difficult to confirm by clinical symptoms only. [9]…”

Section: Introductionmentioning

confidence: 99%

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Serum Autoantibody Profiling of Patients with Paraneoplastic and Non-Paraneoplastic Autoimmune Retinopathy

et al. 2016

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“…Delphi methodology is widely used for gathering and processing data from experts to achieve convergence of opinion on a specific real‐world issue, often in the absence of sufficient evidence to provide adequate guidance . The technique has been used to generate simple, robust, expert experience‐based consensus in a variety of disease settings to improve diagnosis . An analysis of the relationship between the characteristics of Delphi surveys and variability in the consensus obtained found there was a little associated variation in consensus indices if the number of questions was in the range 6–40 (the maximum number in our survey was 26 in round 1); similarly, variability was modest if the number of respondents was in the range 6–50 (22 respondents to our survey) .…”

Section: Discussionmentioning

confidence: 99%

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

Mehta

Kuter

Salek

et al. 2019

Internal Medicine Journal

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BackgroundGaucher disease (GD) presents with a range of signs and symptoms. Physicians can fail to recognise the early stages of GD owing to a lack of disease awareness, which can lead to significant diagnostic delays and sometimes irreversible but avoidable morbidities.AimThe Gaucher Earlier Diagnosis Consensus (GED‐C) initiative aimed to identify signs and co‐variables considered most indicative of early type 1 and type 3 GD, to help non‐specialists identify ‘at‐risk’ patients who may benefit from diagnostic testing.MethodsAn anonymous, three‐round Delphi consensus process was deployed among a global panel of 22 specialists in GD (median experience 17.5 years, collectively managing almost 3000 patients). The rounds entailed data gathering, then importance ranking and establishment of consensus, using 5‐point Likert scales and scoring thresholds defined a priori.ResultsFor type 1 disease, seven major signs (splenomegaly, thrombocytopenia, bone‐related manifestations, anaemia, hyperferritinaemia, hepatomegaly and gammopathy) and two major co‐variables (family history of GD and Ashkenazi‐Jewish ancestry) were identified. For type 3 disease, nine major signs (splenomegaly, oculomotor disturbances, thrombocytopenia, epilepsy, anaemia, hepatomegaly, bone pain, motor disturbances and kyphosis) and one major co‐variable (family history of GD) were identified. Lack of disease awareness, overlooking mild early signs and failure to consider GD as a diagnostic differential were considered major barriers to early diagnosis.ConclusionThe signs and co‐variables identified in the GED‐C initiative as potentially indicative of early GD will help to guide non‐specialists and raise their index of suspicion in identifying patients potentially suitable for diagnostic testing for GD.

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Bilateral Severe Decreased Vision With Normal Examination Findings

Rayess

Patel

2018

JAMA Ophthalmol

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An adult patient with a medical history of systemic lupus erythematosus and cystic fibrosis was seen with painless, rapidly declining vision in both eyes of 1-month duration. The patient had initially seen a general ophthalmologist 1 week after noticing a change in vision and was diagnosed as having bilateral cataracts. Given a continued decline in vision over the next 2 weeks, the patient sought a second opinion. The patient reported taking 400 mg of hydroxychloroquine sulfate daily (6.3 mg/kg/d) during the past 2 years, with normal renal function, but denied any recent change in medications.On initial examination, visual acuity (VA) was counting fingers at 2 ft OD and at 3 ft OS. Intraocular pressures were 14 mm Hg OD and 16 mm Hg OS. Pupils were equal and mildly sluggish to react to light but demonstrated no relative afferent pupillary defect. Slitlamp examination revealed 1+ nuclear sclerosis cataracts. Dilated fundus examination demonstrated normal-appearing retinal and optic nerve architecture with the exception of mild arteriolar narrowing bilaterally (Figure 1A). Results of optical coherence tomography (OCT) of the retinal nerve fiber layer and macula, as well as fundus autofluorescence, were normal (Figure 1B). In addition, magnetic resonance imaging (MRI) of the brain and orbits with and without gadolinium were unremarkable.

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Consensus on the Diagnosis and Management of Nonparaneoplastic Autoimmune Retinopathy Using a Modified Delphi Approach

Cited by 99 publications

References 13 publications

Serum Autoantibody Profiling of Patients with Paraneoplastic and Non-Paraneoplastic Autoimmune Retinopathy

Serum Autoantibody Profiling of Patients with Paraneoplastic and Non-Paraneoplastic Autoimmune Retinopathy

Presenting signs and patient co‐variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED‐C) Delphi initiative

Bilateral Severe Decreased Vision With Normal Examination Findings

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