Unique and progressive retinal degeneration in a patient with cancer associated retinopathy

Mizobuchi, Kei; Katagiri, Satoshi; Hayashi, Takaaki; Ninomiya, Wakana; Okude, Sachiyo; Asano, Yasuhiko; Makoto, Zenno; Hikage, Fumihito; Ohguro, Hiroshi; Ishiba, Yasutsugu; Watanabe, Sumiko; Mizota, Atsushi; Nakano, Tadashi

doi:10.1016/j.ajoc.2020.100908

Cited by 3 publications

(3 citation statements)

References 22 publications

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“…Intravenous methylprednisolone has been frequently used as a more effective treatment than oral steroids for the initiation of treatment [73,74]. Contrastly, Mizobuchi et al reported the effectiveness of oral prednisolone therapy in patients with CAR who exhibited progressive retinal degeneration [75]. Despite the aggressive immunomodulatory therapy, some patients still progress to experience significant vision loss [68].…”

Section: Treatmentmentioning

confidence: 99%

Retinal Dysfunction Caused by Autoimmune Mechanisms

Hirakata¹

2023

Medical and Surgical Retina - Recent Innovation, New Perspective, and Applications

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Autoimmune retinal disorders have been identified, including acute zonal occult outer retinopathy (AZOOR), AZOOR complex, autoimmune retinopathy (AIR) comprising paraneoplastic AIR (pAIR), cancer-associated retinopathy (CAR), melanoma-associated retinopathy (MAR), and non-paraneoplastic AIR (npAIR). Patients with autoimmune retinal disorders typically present with sudden or acute onset of photopsia, photophobia, night blindness, rapid visual loss, and visual field abnormalities. The combination of multimodal imaging and electrophysiology is crucial because these diseases are challenging to diagnose. In particular, electroretinograms (ERGs) are essential for diagnosis. However, no treatment has been established to date. Additionally, a case of inner retinal dysfunction, thought to be a type of AIR, was recently reported. The diagnosis is difficult because most cases occur in one eye, and although the patient complains of severe photophobia, retinal imaging is almost normal, vision is preserved and there is almost no progression. The ERG is very characteristic, with cone-rod dysfunction and negative ERG. This chapter describes in detail the characteristics of AZOOR, AIR, and acute inner retinal dysfunction as new phenotypes of AIR.

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Section: Treatmentmentioning

confidence: 99%

Retinal Dysfunction Caused by Autoimmune Mechanisms

Hirakata¹

2023

Medical and Surgical Retina - Recent Innovation, New Perspective, and Applications

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“…The results have been mixed in terms of short-term outcomes. 71,81-105 Since 2012, there have been 40 cases reported with extractable information (Table, supplement). Among those patients, 25 (62.5%) had more than 3 months of follow-up.…”

Section: Cancer-associated Retinopathymentioning

confidence: 99%

Ocular Paraneoplastic Syndromes: A Critical Review of Diffuse Uveal Melanocytic Proliferation and Autoimmune Retinopathy

et al. 2022

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Background: Dozens of paraneoplastic syndromes affect the visual system ranging from conjunctival pemphigoid to encephalopathy of the occipital cortex. The most profiled ocular syndromes are bilateral diffuse uveal melanocytic proliferation (BDUMP) and the autoimmune retinopathies. Purpose: To review the critical features of these 2 entities then concentrate on advancements in treatment made within the last 10 years. Study Design: Literature review with structured data abstraction. Results: Major insights into pathogenesis have been wanting. Plasmapheresis appears to improve vision in a substantial proportion of patients with BDUMP. The number of clinical variables that influence visual outcome in paraneoplastic retinopathies combined with the variety of local and systemic treatment options makes interpretation of clinical effectiveness difficult. Conclusions: The rarity of these disorders makes randomized clinical trials unlikely. It may be time for a clinical professional organization to use a modified Delphi method to establish a consensus algorithm for the diagnosis and management of retinal paraneoplastic syndromes to augment clinical communications and clinical trials.

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“…Autoimmune Retinopathy (AIR) is a degenerative retinal disease thought to be caused by antibodies, initially produced to target retinal antigens aberrantly expressed in cancer cells, cross-reacting with and subsequently targeting retinal cell antigens, leading to retinal pathology [1,2]. Autoimmune retinopathy is composed of two subtypes: paraneoplastic AIR and non-paraneoplastic AIR [1,3,4].…”

Section: Introductionmentioning

confidence: 99%

Review of Autoimmune Retinopathy and Its Association with Melanoma and Other Malignancies

Klepper

2023

JDR

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Autoimmune Retinopathy (AIR) is an immune-mediated degenerative retinal disorder affecting retinal cell function leading to progressive vision loss. This review aims to quantify documented AIR cases in the literature; and elucidate common visual symptoms, AIR and cancer diagnosis chronology and autoantibodies’ role in AIR pathophysiology. A literature search extracted 58 Melanoma-Associated Retinopathy (MAR) and 76 Cancer-Associated Retinopathy (CAR) cases; CAR primarily consisted of lung, endometrial, ovarian and breast cancer. The majority of MAR cases presented with a melanoma diagnosis preceding onset of AIR symptoms, while the majority of CAR cases presented with AIR symptoms preceding the diagnosis of malignancy. MAR patients experienced nyctalopia and photopsias while CAR patients experienced vision loss, photopsias and nyctalopia. Anti-recoverin is the most well-established antibody implicated in AIR pathogenicity. However, autoantibodies to α-enolase, aldolase A and C, transducin-α, carbonic anhydrase II, arrestin, GAPDH and Transient Receptor Potential cation channel, subfamily M, member 1 (TRPM1) are also key components of retinal degeneration. AIR is likely caused by antibodies-targeting retinal antigens aberrantly expressed in cancer cells-penetrating the blood-retinal barrier and cross-reacting with retinal cell antigens, inducing retinal pathology. It may be appropriate to include AIR vision panel screening as standard of care for individuals with personal/family history or signs/symptoms of retinopathy or cancers for early detection and intervention.

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Unique and progressive retinal degeneration in a patient with cancer associated retinopathy

Cited by 3 publications

References 22 publications

Retinal Dysfunction Caused by Autoimmune Mechanisms

Retinal Dysfunction Caused by Autoimmune Mechanisms

Ocular Paraneoplastic Syndromes: A Critical Review of Diffuse Uveal Melanocytic Proliferation and Autoimmune Retinopathy

Review of Autoimmune Retinopathy and Its Association with Melanoma and Other Malignancies

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