Presumed cancer-associated retinopathy (CAR) mimicking Sudden Acquired Retinal Degeneration Syndrome (SARDS) in canines.

OBJECTIVE: To describe functional and structural features of presumed cancer-associated retinopathy (CAR) mimicking sudden acquired retinal degeneration syndrome (SARDS) in dogs and describe treatment outcomes. ANIMALS: Subjects were 17 dogs from 8 eight US states and Canada diagnosed with SARDS or immune-mediated retinitis (IMR) by 12 ophthalmologists. Nine eyes from seven deceased patients were used for microarray (MA), histology, or immunohistochemical (IHC) analysis. PROCEDURES: Dogs underwent complete ophthalmic examination, including retinal photography, optical coherence tomography (OCT), chromatic pupil light reflex testing (cPLR), and electroretinography (ERG), in addition to complete systemic examination. Histology, microarray, and IHC analysis were performed in CAR retinas to evaluate histological and molecular changes in retinal tissue. RESULTS: None of the patients evaluated satisfied previously established criteria for diagnosis of SARDS (flat ERG+ no red - good blue PLR), and all were diagnosed with IMR. All patients were diagnosed with a cancer: meningioma (24%), sarcoma (18%), pituitary tumor (12%), and squamous cell carcinoma (12%), other (34%). Median survival time was 6 months from diagnosis (range 1-36 months). Most frequent systemic abnormalities were as follows: proteinuria (78%); elevated liver enzymes (47%); and metabolic changes (PU/PD, polyphagia - 24%). Immunosuppressive therapy resulted in the reversal of blindness in 44% of treated patients, with 61% of all treated patients recovering and/or maintaining vision. Median time for preservation of vision was 5 months (range 1-35 months). CONCLUSIONS: Observed changes are highly suggestive of immune-mediated damage in IMR-CAR eyes. A relatively high percentage of patients with CAR responded positively to immunosuppressive therapy.

Improvement of reduced electroretinographic responses in thymoma-associated retinopathy: a case report and literature review.

PURPOSE: To report a patient with thymoma-associated retinopathy presenting as having a good visual prognosis. METHODS: Case report and literature review. CASE REPORT: A 42-year-old female patient was referred to our hospital for complaints of sudden visual-field defects bilaterally. Decimal corrected visual acuity (VA) was 1.5 and 1.2 in the right (RE) and left eyes (LE), respectively. Fundus autofluorescence revealed hyper-autofluorescence from the posterior pole to mid-peripheral retina in both eyes. Full-field electroretinography (ERG) amplitudes were reduced to 20-50% and 30-50% of our controls for the scotopic and photopic conditions, respectively. A systemic examination revealed the presence of thymoma, and the patient underwent thymectomy and immunosuppression therapies. Immunohistochemical analysis using the patient's serum showed immunolabeling on the photoreceptor inner segment and outer plexiform layer in the monkey retina. Two years later, VA remained at 1.5 and 1.2 in RE and LE. ERG amplitudes improved to 30-60% of the controls for the scotopic conditions. However, photopic ERG showed no remarkable change. CONCLUSIONS: To our knowledge, improvement of reduced rod-mediated ERG responses has not been described in seven previously reported patients with thymoma-associated retinopathy. The good visual prognosis of our patient may be associated with well-timed intervention.

Diagnosis difficulties in a patient with progressive loss of vision - a case report.

The paper presents the case of a 57-year-old male patient who complained of slow progressive loss of visual acuity. Anamnesis revealed he was a heavy drinker and he was previously diagnosed with a pancreatic cancer, observed on the MRI. The clinical examination revealed ocular features that made the diagnosis difficult. Initially, it seemed to be a case of narrow angle glaucoma but further ocular examinations revealed macular thinning.

Paraneoplastic neuromyelitis optica spectrum disorders: three new cases and a review of the literature.

Neuromyelitis optica spectrum disorders (NMOSD) occasionally develop in patients with tumor in relation to aquaporin-4 IgG (AQP4-IgG), representing a new paraneoplastic phenomenon. We reported three patients with paraneoplastic NMOSD and provided a comprehensive review of the literature. A total of 34 cases with paraneoplastic NMOSD were identified from our own case database (n = 3) and the previous literature (n = 31). The median age at NMOSD-related symptom onset was 50.5 years, and 91% of the cases were female. 11 (32%) cases had breast carcinoma. In 15 (44%) cases, NMOSD-related symptoms preceded tumor detection [median, 4 (range 1-180) months], and in 19 (56%) cases, symptoms followed tumor detection [median, 12 (range 3-180) months]. 5/14 (36%) cases had hiccups and vomiting as the initial symptoms, with the involvement of medulla oblongata. In 10/14 (71%) cases, cervical spinal cord was involved. In contrast to idiopathic NMO, NMOSD is more likely to be paraneoplastic than in patients aged over 50 years at the onset of symptoms, especially for female patients. Breast carcinoma is the most common tumor associated with paraneoplastic NMOSD, accounting for nearly a third of all types of tumors. Paraneoplastic NMOSD usually involves medulla oblongata and cervical spinal cord. We recommend adding AQP4-IgG as an onconeural antibody, but its clinical utility warrants further investigations.

Case of paraneoplastic retinopathy with retinal ON-bipolar cell dysfunction and subsequent resolution of ERGs.

PURPOSE: To report a patient with cancer-associated retinopathy and retinal ON-bipolar cell dysfunction who had a resolution of the electroretinograms (ERGs) after a resection of an ovarian cancer and chemotherapy. CASE REPORT: A 71-year-old Japanese female patient visited us complaining of night blindness and photopsia in both eyes for 6 months. Her visual acuity was 20/20 in both eyes, and fundus examination, fluorescence angiography, and optical coherence tomography showed no abnormalities in both eyes. The rod responses of the ERGs were absent and bright-flash ERGs were electronegative. The ON responses of the focal macular ERGs and full-field long-flash ERGs were absent. These ERG findings indicate an ON-bipolar cell dysfunction. A general physical examination revealed the presence of ovarian cancer. After resection of the ovarian cancer and adjuvant chemotherapy, the ERGs of the left eye completely recovered within 2 years and those of right eye recovered subsequently. The autoantibody against transient receptor potential melastatin 1 (TRPM1) was not detected in the serum. CONCLUSION: Our case demonstrates that retinal ON-bipolar dysfunction can be caused by ovarian cancer. Our case indicates that some autoantibodies against other than TRPM1 might cause transient dysfunction of retinal ON-bipolar cells.

Autoimmune retinopathy associated with carcinoid tumour of the small bowel.

Cancer associated retinopathy (CAR) is an immune mediated paraneoplastic condition associated with vision loss. It has been associated with a variety of systemic malignancies. The primary clinical presentation is rapid, progressive vision loss. Rod and cone dysfunction can cause other associated symptoms, such as nyctalopia. Electrophysiological testing and detection of anti-retinal antibodies are used to confirm the diagnosis. To our knowledge we describe the first patient with CAR associated with a carcinoid tumour of the gastrointestinal system. Auto-antibodies against alpha enolase and carbonic anhydrase II were detected with western blotting. Electroretinogram findings were consistent with rod and cone dysfunction.

Delayed presentation of melanoma-associated retinopathy and subsequent resolution with cytoreduction surgery.

BACKGROUND: To present a case of melanoma-associated retinopathy (MAR) which manifested 26 months prior to a formal diagnosis of melanoma. METHODS: Case report. RESULTS: A 72-year-old female presented with bilateral continuous photopsia consistent with MAR of 7-months duration. At this point, visual function appeared normal with the exception of mildly impaired colour vision (10/17 Ishihara plates). The flash electroretinographic (ERG) revealed extinguished rod responses, a normal a-wave and reduced b-wave (electronegative ERG) on the maximal combined response, absent oscillatory potentials and broadened a-wave trough on the cone response. Multifocal ERG (mfERG) responses were delayed and demonstrated atypical morphology. Nineteen months after the initial presentation, her visual symptoms had progressed significantly with constant debilitating photopsia in combination with 13 kg weight loss. Biopsy of a now evident left axillary mass demonstrated a metastatic high-grade malignant melanoma. No primary was detected, and an axillary lymph node clearance was undertaken. Subsequently, visual symptoms resolved with corresponding improvement in the ERG over the next 18 months. Rod responses recovered such that the amplitude was at the lower limit of normal and the mfERG response delay lessened. Unfortunately, the melanoma recurred and the patient passed away 6 months later. Visual symptoms did not recur. CONCLUSION: We present a case which demonstrates MAR may precede the formal diagnosis of melanoma by up to 26 months. The potential for improvement in the rod visual function persists over a period of years with normalisation of an electronegative waveform. In this case, cytoreductive surgery resulted in complete resolution of the MAR, which did not return even with a recurrence of the tumour.

Pancreatic neuroendocrine paraneoplastic optic neuropathy: confirmation with antibody to optic nerve and hepatic metastasis.

A 68-year-old woman presented with bilateral visual loss as the only clinical manifestation of an occult pancreatic nonsecretory neuroendocrine tumor (NET). The suspected diagnosis of paraneoplastic optic neuropathy was confirmed using immunofluorescence assays to demonstrate the presence of antibodies in the patient's serum that reacted with antigen(s) in the optic nerve and in the pancreatic NET hepatic metastasis. Treatment of the underlying cancer was followed by marked improvement in visual function.

Acute exudative paraneoplastic polymorphous vitelliform maculopathy in five cases.

BACKGROUND AND OBJECTIVE: To evaluate clinical features, course, and outcome of patients with acute exudative paraneoplastic polymorphous vitelliform maculopathy (AEPPVM). PATIENTS AND METHODS: Retrospective case series of 5 patients. RESULTS: There were 3 males and 2 females, with a median age of 74 years. The primary neoplasms were cutaneous melanoma (n = 2), choroidal melanoma (n = 1), lung adenocarcinoma (n = 1), and lung plus breast adenocarcinoma (n = 1). The mean interval between the diagnosis of the primary neoplasm and the diagnosis of AEPPVM was 42 months. The presenting symptom was blurred vision in all cases. Ophthalmoscopy disclosed multifocal localized shallow serous detachments of the post-equatorial neurosensory retina with yellow-white subretinal debris confirmed by optical coherence tomography (OCT). There was a mean of 21 individual sites of detachment per eye, each measuring a mean of approximately 0.8 millimeter in diameter. Fundus autofluorescence depicted hyperautofluorescence corresponding to the detachments. After mean follow-up of 5 months, three patients had died of metastases. Of the two survivors, one showed resolution of lesions and the other was unchanged. CONCLUSION: AEPPVM is a paraneoplastic retinopathy found in patients with metastatic melanoma or carcinoma. The most salient feature is reduced visual acuity from multifocal shallow retinal detachments less than 1-mm diameter, best depicted on OCT.

Bilateral paraneoplastic optic neuropathy and unilateral retinal compromise in association with prostate cancer: a differential diagnostic challenge in a patient with unexplained visual loss.

We report a 77-year-old Caucasian man with a 1-year complaint of unexplained visual loss and a 4-year history of prostate cancer. A complete ophthalmologic exam, Goldmann visual fields (GVFs), intravenous fluorescein angiography (IVFA), macular and disc optical coherence tomography (OCT), pattern-reversal visual evoked potentials (PVEPs), and flash electroretinograms (ERGs) were performed. On examination, visual acuity was reduced bilaterally. Fundus exam showed juxtapapillary changes (OS > OD) and, in OS, disc pallor, peripheral RPE dropout and whitish retinal discoloration along the arcades. OCTs were normal OU. Cancer-associated retinopathy (CAR) was suspected. A flash ERG was normal OD and markedly reduced and electronegative OS. An IVFA showed bilateral juxtapapillary staining and changes highly suggestive of sequelae of central retinal artery occlusion (CRAO) OS , in which a cilioretinal artery existed along the papillomacular bundle. GVFs showed bilateral blind spot enlargement and centrocecal scotomas, and PVEPs were delayed. These findings suggested cancer-associated optic neuropathy (CAON), confirmed by presence of anti-optic nerve autoantibodies (auto-Abs). No anti-retinal auto-Abs were found. CAON is a less common paraneoplastic manifestation than CAR and it is rarely observed in association with prostate cancer. A combination of visual function testing methods permitted the recognition, in this highly unusual case, of the concurrent presence of unilateral ERG changes most likely attributable to CRAO complications in OS, in all likelihood unrelated to CAON, and not to be confused with unilateral CAR. Auto-Ab testing in combination with visual function tests helps achieve a better understanding of the pathophysiology of vision loss in paraneoplastic visual syndromes.

Hyperautofluorescent ring in autoimmune retinopathy.

PURPOSE: To report the presence of a hyperautofluorescent ring and corresponding spectral-domain optical coherence tomography (SD-OCT) features seen in patients with autoimmune retinopathy. METHODS: All eyes were evaluated by funduscopic examination, full-field electroretinography, fundus autofluorescence, and SD-OCT. Further confirmation of the diagnosis was obtained with immunoblot and immunohistochemistry testing of the patient's serum. Humphrey visual fields and microperimetry were also performed. RESULTS: Funduscopic examination showed atrophic retinal pigment epithelium (RPE) associated with retinal artery narrowing but without pigment deposits. The scotopic and photopic full-field electroretinograms were nondetectable in three patients and showed a cone-rod pattern of dysfunction in one patient. Fundus autofluorescence revealed a hyperautofluorescent ring in the parafoveal region, and the corresponding SD-OCT demonstrated loss of the photoreceptor inner segment-outer segment junction with thinning of the outer nuclear layer from the region of the hyperautofluorescent ring toward the retinal periphery. The retinal layers were generally intact within the hyperautofluorescent ring, although the inner segment-outer segment junction was disrupted, and the outer nuclear layer and photoreceptor outer segment layer were thinned. CONCLUSION: This case series revealed the structure of the hyperautofluorescent ring in autoimmune retinopathy using SD-OCT. Fundus autofluorescence and SD-OCT may aid in the diagnosis of autoimmune retinopathy and may serve as a tool to monitor its progression.

[A case of cancer-associated retinopathy rapidly leading to blindness with a unique pupillary light reflex].

BACKGROUND: We herein report a case of cancer-associated retinopathy (CAR) associated with malignant lymphoma, beginning with uveitis and rapidly leading to blindness. CASE: A 54-year-old woman presented with a seven-day history of bilateral progressive vision loss. She had no light perception OU. She had keratic precipitates, anterior chamber cells and fine vitreous opacities OU. Fundus examination showed no signs of inflammation, but both a narrowing of the retinal arterioles and non-active diabetic retinopathy were observed. The electroretinogram was extinguished, and optical coherence tomography showed thinning of the outer retinal layer. Systemic examination revealed malignant lymphoma. Anti-recoverin antibody was detected in the patient's serum. Based on these observations, the patient was diagnosed as having CAR. She was treated with steroid pulse therapy, but her visual acuity did not improve. Although she had no light perception, her pupils showed slow and persistent constriction in reaction to strong and long light stimulation during the follow-up period. CONCLUSIONS: In certain circumstances CAR can progress rapidly and lead to blindness within a few days. We observed a delayed, slow, and persistent pupillary light reflex in a CAR patient with no light perception, presumably due to the intrinsic photoactivation of the melanopsin-containing retinal ganglion cells in the uninvolved inner retina.