Retinal Arterio-Arterial Collaterals in Susac Syndrome.

BACKGROUND: The ophthalmic findings of Susac syndrome (SS) consist of visual field defects related to branch retinal artery occlusion (BRAO), and fluorescein angiography (FA) reveals a unique staining pattern. To date, retinal arterial collateral development has been described only in a single patient. Given that the immunopathological process in SS induces retinal ischemia, it is conceivable that abnormal blood vessel development may occur in affected individuals. METHODS: This is a retrospective observational study. The medical records including fundus photography and FA of all patients with SS were reviewed, and those with any type of retinal arterial collateral were identified. RESULTS: A total of 11 patients were identified with retinal collaterals. Five were men. Age ranged from 20 to 50 years. Ten patients had arterio-arterial (A-A) collaterals and 1 had arterio-venous (A-V) collaterals, and all had collaterals remote from the optic disc. No collaterals were present at onset of illness and the first developed at 9 months. CONCLUSIONS: The literature reveals scant evidence for the association between BRAO and retinal arterial collaterals. Our findings indicate that retinal arterial collaterals in SS are usually A-A and not A-V and may be more common in this disorder than previously believed. Collaterals do not develop early in the disease, and there may be a predilection toward development in men. The chronic inflammatory state of SS may be the stimulus for the development of these arterial collaterals.

Multiple sclerosis: review of eye movement disorders and update of disease-modifying therapies.

PURPOSE OF REVIEW: To review important eye movement disorders in multiple sclerosis (MS) and update the ophthalmologist on disease-modifying therapies in MS, from the perspective of expert neurologists. RECENT FINDINGS: A large study confirmed that eye movement abnormalities in MS can be commonly identified by bedside examination. Identifying such ocular motility disturbances can assist in the diagnosis and prognosis for patients with MS. Articles published on such agents as oral teriflunomide and the biologics, natalizumab and alemtuzumab, have defined emerging roles of these treatments in the management of MS. SUMMARY: Many patients with MS suffer from isolated or a combination of eye movement disorders. Understanding their ocular motility disturbance patterns can help diagnose MS and correlate with the progression of MS. Exciting advances in MS disease-modifying treatments have been developed. Patients have more options than ever before of injectable, infusion and oral therapies. The therapeutic efficacy in lowering relapse rates is counterbalanced by these drugs' side-effects.

Tubulointerstitial nephritis and uveitis syndrome: a case with an autoimmune reactivity against retinal and renal antigens.

Tubulointerstitial nephritis and uveitis (TINU) generally occurs at young age and has a female preponderance. Renal biopsy reveals interstitial infiltration of inflammatory cells and edema, and the associated intraocular inflammation typically consists of an anterior, bilateral uveitis. The pathogenesis of TINU likely involves both humoral and cellular immunity and is mediated by medications, infectious agents, or other unknown causes. A previous report detected a renal antigen recognized by the serum of a TINU patient. In this report the authors extend these observations to document seroreactivity against a retinal antigen of similar size.

Clinical course of retrobulbar hemangioblastomas in von Hippel-Lindau disease.

OBJECTIVE: To report clinical findings of rare retrobulbar optic nerve hemangioblastomas associated with von Hippel-Lindau disease (VHL). DESIGN: Retrospective observational case series. PARTICIPANTS: Nine patients with VHL. METHODS: The clinical course and magnetic resonance imaging findings of patients with VHL and hemangioblastomas affecting the anterior visual pathway from the intraorbital optic nerve to the optic chiasm are reviewed. MAIN OUTCOME MEASURE: Clinical course of retrobulbar optic nerve hemangioblastomas. RESULTS: The mean age of VHL diagnosis was 24+/-14 years, and mean follow-up was 5+/-4 years. All had other CNS lesions and retinal hemangioblastomas. Approximately 50% (5/9) had a previous enucleation or had visual acuity loss (4/9), some due to other VHL ocular complications. Four patients underwent surgical resection of an intracranial hemangioblastoma. Growth patterns and pathology are similar to those of other hemangioblastomas in the CNS. CONCLUSIONS: Although these lesions are rare, patients with VHL who present with signs of optic neuropathy should be evaluated for anterior visual pathway hemangioblastomas impinging on the optic nerve from the orbit to the chiasm. On neuroimaging, the hemangioblastomas may demonstrate chiasmal or optic tract edema, associated cysts, and T(2) flow voids. Lesions may remain radiologically and clinically stable, evolve radiographically with no visual or neurological progression, or progress clinically and radiographically. Patients at risk for visual loss should be considered for surgical resection. Close coordination among neuroradiology, neurosurgery, and ophthalmology patient care teams is advised for optimal management of these patients.

Frequency of anti-retinal antibodies in normal human serum.

BACKGROUND: Anti-retinal antibodies have been described in the context of autoimmune retinopathies and are often presumed to be pathogenic or disease associated. However, full characterization of patterns of anti-retinal antibody reactivity in normal human serum has been limited. The purpose of this work was to identify the profile of anti-retinal IgG antibodies in serum used as controls in laboratory testing. METHODS: Normal human sera used in commercial diagnostic laboratories were tested for the presence of immunoreactivity against soluble human retinal proteins using Western blot analysis of fractionated soluble human retinal proteins. Reactivity was quantified using computerized densitometry, and the level of reactivity was standardized relative to a control positive serum with known reactivity against recoverin. RESULTS: Some anti-retinal reactivity was observed in the majority of all tested normal sera. Reactivity against one to two protein bands was observed in 33%. Reactivity against five or more distinct bands was observed in 22%. There was a tendency for serum from women to react with three or more protein bands compared with serum from men. CONCLUSIONS: The presence of anti-retinal antibodies is observed in a majority of normal control human sera, suggesting that identification of new candidate retinal autoantigens should be cautiously interpreted and subject to rigorous testing for disease association. Additional studies will aid development of a standardized protocol for validation of potential pathogenic seroreactivity.

Choroidal and optic nerve infarction in hepatitis C-associated polyarteritis nodosa.

A 39-year-old man presented with headache, weight loss, bilateral subdural hematomas, pansinusitis, and visual loss. The neuro-ophthalmologic examination disclosed deep choroidal lesions and bilateral optic disc edema. Orchiectomy for testicular torsion showed acute vasculitis consistent with polyarteritis nodosa (PAN). Polymerase chain reaction (PCR) testing revealed hepatitis C. This is the first reported case of PAN due to hepatitis C with early findings of choroidal and optic nerve infarction.

Electroretinographic abnormalities in multiple sclerosis: possible role for retinal autoantibodies.

BACKGROUND: Multiple sclerosis (MS) has been associated with inflammation of the uveal tract, suggesting an immunological link between the uvea and central nervous system (CNS) in this disease. The retina is embryologically derived from the CNS, and it is conceivable that retinal antigens may also be recognized by the immune system in MS. Electroretinographic abnormalities, as well as retinal autoantibodies, have previously been described in MS. We performed this study to further explore the possibility of retinal autoimmunity in MS. METHODS: Thirty-four patients with clinically definite MS and thirty-seven healthy controls were recruited. All patients and controls had standard electroretinographic (ERG) testing done, as well as a brightflash ERG protocol to isolate rod photoreceptor function. Patient and control sera were analyzed for the presence of antiretinal antibodies using Western blot techniques. RESULTS: We found statistically significant differences between MS patients and controls in four ERG parameters. In the MS group, implicit times of the rod-cone b-wave response, cone b-wave response, and rod photoreceptor response were increased. The amplitudes of the photopic oscillatory potentials were reduced in the MS group. Patients with the highest titres of retinal autoantibodies had delayed rod-cone b-wave implicit times and diminished photopic oscillatory potential amplitudes. CONCLUSIONS: We report ERG evidence of retinal dysfunction in patients with MS. We also report the first use of the brightflash ERG protocol in MS, which demonstrated rod photoreceptor dysfunction. Patients with the highest antiretinal antibody titres had abnormal ERG recordings. Retinal autoimmunity is a possible explanation for these observed ERG abnormalities in MS patients.