Recalcitrant Optic Nerve and Retinal Infiltration in a Relapse of Acute Lymphoblastic Leukaemia.

Isolated ocular relapse of leukaemia is rare. We present the case of a 20-year-old male with T-cell acute lymphoblastic leukaemia (ALL) who reported sudden blurring of vision in both eyes 6 months after documentation of ALL remission. Ocular examination showed bilateral infiltrative optic neuropathies and serous retinal detachments. Cerebrospinal fluid and bone marrow samples were negative for blast cells. Systemic work-up did not reveal any other sites of involvement. The ocular infiltration partially responded to reinduction chemotherapy, intraconal steroids, and radiotherapy. This report demonstrates a challenging case of isolated ocular ALL relapse presenting as bilateral optic nerve and retinal infiltration.

Longitudinal Optical Coherence Tomography Imaging Reveals Hyperreflective Foci Characteristics in Relapsing-Remitting Multiple Sclerosis Patients.

Background/Objectives: Retinal hyperreflective foci, 25-50 µm in diameter, that can be imaged by noninvasive optical coherence tomography (OCT) may represent microglial activity related to inflammation. This study aimed to detect hyperreflective foci in the OCT-hyporeflective avascular outer nuclear layer of the retina in relapsing-remitting MS (RRMS) patients without ongoing eye or optic nerve disease. Methods: A cohort of 13 RRMS patients (8 eyes with and 18 eyes without prior optic neuritis) underwent retinal OCT at baseline, after 1 month, after 6 months, and then every 6 months for 3 years. The data were compared with single-examination data from 106 eyes in 53 age-matched healthy subjects. Results: The prevalence of hyperreflective foci at baseline was higher in RRMS patients than in healthy subjects (46.2% vs. 1.8%, p < 0.005). Patients with optic neuritis had much more foci than those without (p < 0.001). Hyperreflective foci recurred in 23.1% of RRMS patients, bilaterally in one with prior optic neuritis and unilaterally in two without. Conclusions: Patients with RRMS, notably those with prior optic neuritis, had elevated rates of retinal infiltration in the absence of retinal disease, suggesting that the phenomenon may represent elevated activity of an immune surveillance or housekeeping mechanism rather than retinal disease.

Hyperreflective dots in the avascular outer retina in relapsing-remitting multiple sclerosis.

BACKGROUND: Hyperreflective granular elements with a transient presence in the retina can be detected non-invasively by optical coherence tomography (OCT). Such foci or dots may represent aggregates of activated microglia. However, in multiple sclerosis an increased number of hyperreflective foci has so far not been demonstrated in the intrinsically hyporeflective and avascular outer nuclear layer of the retina where there are no fixed elements in healthy eyes. Therefore, the present study intended to investigate the presence of hyperreflective foci in the outer nuclear layer in patients with relapsing- remitting multiple sclerosis (RRMS) by using a high-resolution OCT scanning protocol. METHODS: This cross-sectional exploratory study examined 88 eyes in 44 RRMS patients and 106 eyes in 53 age- and sex-matched healthy subjects. None of the patients had any sign of retinal disease. All patients and healthy subjects each underwent one session of spectral domain OCT imaging. A total of 23,200 B-scans extracted from 8 × 8 mm blocks of linear B-scans at 60 µm intervals were analysed for hyperreflective foci in the outer nuclear layer of the retina. Analyses were made of the total block scan and a circular 6-mm diameter fovea-centered field in each eye. Multivariate logistic regression analysis was used to assess associations between parameters. RESULTS: Hyperreflective foci were observed in 31 out of 44 (70.5 %) multiple sclerosis patients compared to 1 out of 53 (1.8%) healthy subjects (p < 0.0001). From analyses of the total block scans, the median number of hyperreflective foci in the outer nuclear layer was 1 (range 0-13) in patients and 0 (range 0-2) in healthy subjects (p < 0.0001). In total, 66.2% of all hyperreflective foci were located within 6 mm of the center of the macula. There was no detectable association between the presence of hyperreflective foci and retinal nerve fiber layer or ganglion cell layer thickness. CONCLUSION: Hyperreflective granular foci in the avascular outer nuclear layer of the retina seen by OCT were almost completely absent in healthy subjects, whereas they were found, albeit at low density, in the majority of patients with RRMS. Hyperreflective foci can be repeatedly examined by non-invasive means and without pupil dilation, which opens a new field of investigation of infiltrating elements in an unmyelinated part of the central nervous system.

Epstein-Barr virus induced post-transplant lymphoproliferative disorder presenting with unilateral retinal involvement.

PURPOSE: Post-transplant lymphoproliferative disorder (PTLD) represents a spectrum of disorders associated with Epstein Barr Virus infection in up to 80% of cases in the setting of pharmacologic immunosuppression following hematopoietic stem cell or solid organ transplantation. Ocular involvement is a rare finding in PTLD. OBSERVATION: We report the case of a 38-year-old man who presented with unilateral retinal infiltrates as first manifestation of PTLD relapse. Diagnosis relied on the presence of EBV DNA in anterior chamber fluids and vitrectomy that showed the presence of a B cell clone. Systemic relapse of PTLD was detected 12 weeks after retinal findings. Treatment of ocular disease included systemic injections of rituximab and intravitreal injections of methotrexate, halting the extension of retinal infiltrates. CONCLUSION: Ocular involvement in PTLD is rare and needs to be acknowledged because it can precede a systemic relapse of the hematological condition.

Germinoma Involving the Retina: An Unusual Presentation of Recurrent Intracranial Mixed Germ Cell Tumor.

BACKGROUND: We report a patient with primary central nervous system mixed malignant germ cell tumor (GCT) who presented with recurrent malignant germinomatous infiltration of the retina. CASE DESCRIPTION: A 10-year-old girl initially presented with a large suprasellar mixed malignant GCT with a near-complete response after initial induction of chemotherapy and irradiation. Three and a half years after initial therapy, she presented with progressively worsening vision in her left eye. Magnetic resonance imaging showed infiltrative changes within the left optic nerve but no discrete mass. Serum and cerebrospinal fluid tumor markers were not elevated and cerebrospinal fluid cytology was negative. Left optic nerve biopsy confirmed the presence of mature teratoma and pure germinoma components. She was treated with gross-total resection of the left eye and optic nerve and chemotherapy. Histopathologic evaluation of the optic nerve showed only mature teratoma elements, but with pure germinoma cells infiltrating the inner layers of the retina. CONCLUSIONS: Loco-regional extension of suprasellar GCT to the optic nerve is not uncommon; however, to the best of our knowledge, infiltration of the tumor into the retina is not reported in the literature. Early detection of optic pathway involvement and proper delineation of the irradiation field may prevent GCT infiltration of the retina with subsequent vision loss.

Primary Intraocular Diffuse Large B-cell Lymphoma: Diagnostic Difficulties in Deep Retinal Infiltrations with Vitritis.

PURPOSE: Primary intraocular lymphoma (PIOL) is a rare malignancy with an aggressive clinical course. It is usually considered as a subset of primary central nervous system lymphoma. Differential diagnosis should include infectious and non-infectious aetiologies, particularly the common masqueraders sarcoidosis, tuberculosis, viral retinitis and syphilis. PATIENT: The article presents a case of bilateral vitreoretinal lymphoma manifesting as uveitis and vitritis resistant to corticosteroid therapy. The final diagnosis was based on a retinal biopsy. RESULTS: The patient was successfully treated with systemic and local therapy. Long-term complete remission (CR) was reached. The relapse of diffuse large B-cell lymphoma was revealed in the frontal left lobe after 48 months of CR duration. CONCLUSION: The diagnosis of PIOL is always very difficult. Cooperation of pathologists, ophthalmologists and hematologists is required for a quick and accurate diagnosis. Local and systemic treatment is needed to achieve CR, but the relapse rate remains very high.