Hidden in the Eyes-Recurrence of Systemic Hemopathies Reportedly "In Remission": Six Cases and Review of Literature.

Background and Objectives: Secondary ocular localizations of hematological malignancies are blinding conditions with a poor prognosis, and often result in a delay in the diagnosis. Materials and Methods: We describe a series of rare cases of ocular involvement in six patients with hematological malignancies, reportedly in remission, who presented secondary ocular localizations, challenging to diagnose. Two patients had an acute lymphoblastic leukemia (ALL) and developed either a posterior scleritis or a pseudo-panuveitis with ciliary process infiltration. One patient had iris plasmacytoma and developed an anterior uveitis as a secondary presentation. Two patients had a current systemic diffuse large B-cell lymphoma (DLBCL) and were referred either for intermediate uveitis or for papilledema and vitritis with secondary retinitis. Finally, one patient with an acute myeloid leukemia (AML) presented a conjunctival localization of a myeloid sarcoma. We herein summarize the current knowledge of ophthalmologic manifestations of extramedullary hematopathies. Results: Inflammatory signs were associated with symptomatic infiltrative lesions well displayed in either the iris, the retina, the choroid, or the cavernous sinus, from the admission of the patients in the ophthalmological department. These findings suggest that patients with ALL, AML, systemic DLBCL, and myeloma can present with ophthalmic involvement, even after having been reported as in remission following an effective systemic treatment and/or allograft. Conclusions: Early detection of hidden recurrence in the eyes may permit effective treatment. Furthermore, oncologists and ophthalmologists should be aware of those rare ocular malignant locations when monitoring patient's progression after initial treatment, and close ophthalmologic examinations should be recommended when detecting patient's ocular symptoms after treatment.

Bleb Revision With Temporalis Fascia Autograft.

PURPOSE: We report the first description of temporalis fascia autograft to repair a late leakage bleb with scleral defect that occurred long time after trabeculectomy with mitomycin C. PATIENT: A 65-year-old woman was referred to our hospital with chronic late bleb leakage on her right eye. She had previously undergone a trabeculectomy with mitomycin C 3 years ago for a pigmentary glaucoma. Bleb leakage occurred 1½ year after the initial surgery. She underwent 2 surgical revisions consisting of a conjunctival advancement then an autologous conjunctival with partial scleral grafts without success. The initial best-corrected visual acuity of the right eye was 20/50 (Snellen scale). Slit-lamp examination revealed an avascular filtering bleb with leakage (massive positive Seidel test) and a scleral defect. The anterior chamber was deep and intraocular pressure (IOP) was 9 mm Hg.Faced with the risk of blebitis, endophthalmitis, and with the failure of the previous surgeries announced earlier, a surgical revision with autologous superficial temporalis fascia graft was decided to repair the leaking bleb. After local anesthesia, a sample of superficial temporalis fascia was harvested. The necrotic avascular conjunctiva around the bleb was dissected to separate and excise it from the sclera. The autologous fascia graft was sutured on the scleral defect with 10-0 nylon. Subsequently healthy conjunctiva was sutured above the graft. RESULTS: No bleb leakage occurred postoperatively, best-corrected visual acuity improved to 20/25, and IOP remained within normal levels 6 months after surgery without IOP-lowering medication. CONCLUSIONS: Superficial temporalis fascia autograft seems to be an effective, safe, and easy technique for ophthalmologists. It is a new procedure in the management of late-onset bleb leakage.

Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.

FOXC1 deletion, duplication, and mutations are associated with Axenfeld-Rieger anomaly, and Dandy-Walker malformation spectrum. We describe the clinical history, physical findings, and available brain imaging studies in three fetuses, two children, and one adult with 6p25 deletions encompassing FOXC1. Various combinations of ocular and cerebellar malformations were found. In all three fetuses, necropsy including detailed microscopic assessments of the eyes and brains showed ocular anterior segment dysgenesis suggestive of Axenfeld-Rieger anomaly. Five 6p25 deletions were terminal, including two derived from inherited reciprocal translocations; the remaining 6p25 deletion was interstitial. The size and breakpoints of these deletions were characterized using comparative genomic hybridization arrays. All six deletions included FOXC1. Our data confirm that FOXC1 haploinsufficiency plays a major role in the phenotype of patients with 6p25 deletions. Histopathological features of Axenfeld-Rieger anomaly were clearly identifiable before the beginning of the third-trimester of gestation.