Purtscher-like retinopathy in a patient with systemic tacrolimus vasculopathy.

INTRODUCTION: Purtscher-like retinopathy is a rare occlusive retinal microangiopathy, whose pathogenesis has not been totally defined yet. Most frequent cause of Purtscher-like retinopathy is acute pancreatitis, but it may be triggered by other systemic or toxic conditions. We report herein a case of Purtscher-like retinopathy in the context of systemic tacrolimus vasculopathy. CASE REPORT: A 56-years old male with history of kidney transplant was referred to local emergency room because of a global worsening of health conditions, with fatigue, muscular pain and diuresis contraction. During hospitalization the patient came to our attention for sudden and severe visual acuity impairment in both eyes. Extensive ophthalmological assessment, optical coherence tomography (OCT) and fluorescein angiography (FA) were performed disclosing a marked drop in best corrected visual acuity (BCVA) (20/200 in the right eye and 10/400 in the left eye) caused by a bilateral severe occlusive retinal microangiopathy complicated by diffuse retinal ischaemia and neovascular glaucoma. Muscular biopsy showed a necrotizing myopathy with autoimmune features, as indicated by conspicuous upregulation of MHC-I complex and microangiopathic changes, consistent with tacrolimus toxicity. Tacrolimus administration was interrupted, and intravenous glucocorticoids were administered. The large areas of retinal ischemia and neovascular glaucoma were treated with pan-retinal photocoagulation and intravitreal injections of bevacizumab with complete regression of iris neovascolarization. BCVA measured 20/200 in both eyes at last follow-up visit, 20 months after symptoms onset. CONCLUSIONS: Purtscher-like retinopathy should be suspected in patients under treatment with calcineurin inhibitors especially in case of sudden and severe bilateral visual impairment.

Rescue intra-arterial chemotherapy in unilateral multirelapsed peripapillary retinoblastoma: Decision making and the role of MRI.

INTRODUCTION: In this case report we report our experience with rescue intra-arterial chemotherapy in a case of multi-relapsed peripapillary Retinoblastoma (RB) and the importance of high resolution MRI in detecting possible optic disc infiltration. CASE REPORT: In 2007, a 14 month-old caucasian girl was referred to our ocular oncology unit for leukocoria. Only left eye was interested, with a single mass of the posterior pole. Patient underwent six cycles of systemic chemotherapy and focal laser consolidation. Several relapses occurred during follow-up. Selective intra-arterial chemotherapy (SIAC) with Melphalan was performed and type IV remission was achieved. A new relapse occurred next to the optic disc. MRI was performed and we decided to try to save the globe with a rescue cycle of SIAC. CONCLUSION: MRI has demonstrated to be useful in decision making in RB, giving us a last chance to save the globe.

Very late orbital recurrence of choroidal melanoma four decades post enucleation.

Orbital recurrence of malignant choroidal melanoma is quite uncommon, occurring in about 3% of patients undergoing enucleation for large tumors. Orbital recurrences after more than 10 years from enucleation are even rarer. In literature, only few reports described orbital recurrence that occurred between 10 and 40 years after primary diagnosis. Herein we report a very late choroidal melanoma recurrence, 40 years post enucleation, of a 52 year-old female who had undergone left enucleation at the age of 12. She presented to our clinic for consultation in 2017, complaining of difficulty to contain the prosthesis, as well as, presence of small pigmented palpable nodules inferiorly in her anophthalmic socket. The patient was not aware of the medical condition which had lead to the enucleation. We requested her medical reports and detailed history through her family. We realized after reviewing her charts 40 years back, that her enucleation was due to malignant choroidal melanoma (CMM). Full screening was performed. After magnetic resonance imaging (MRI), that showed the presence of nodular masses in the anophthalmic socket, an excisional biopsy was performed. Histopathology confirmed the diagnosis of CMM (epithelioid and spindle cell type), supporting the hypothesis that residual melanoma cells may remain clinically dormant for long periods, even for decades. A literature review was performed in order to review similar cases and to understand and discuss multiple factors, which may explain this extremely delayed recurrence. To the best of our knowledge, this is the third case to be reported in the literature.

Novel retinal finding in a patient with 4q12 deletion.

BACKGROUND: Chromosome 4q deletions are rare disorders phenotypically characterized by several features. The most commonly described ocular abnormalities include unilateral microphthalmia with bilateral colobomata, blue sclerae with pigmented retinal clumps, hypermetropia, and a divergent squint. PURPOSE: To report a case of 4q12 deletion with a singular retinal feature. MATERIALS AND METHODS: Case report. RESULTS: A 20-year-old Caucasian female with a history of poliosis, progressive appearance of small areas of skin depigmentation along trunk and limbs since birth and diagnosis of learning deficit was referred for a complete ocular examination. The genetic counseling showed microdeletion in the 4q12 region. An audiometric test was performed, showing a progressive bilateral neurosensorial hypoacusia. Ocular examination showed the presence of multifocal, tiny, whitish deposits in the posterior pole. Multimodal imaging defined the lesions as small elevations of the retinal pigment epithelium with slight hyper-autofluorescence and staining in the late phase of fluoresceine angiography (FA). Visual acuity was 20/20. The retinal findings did not change during the three-month follow-up. CONCLUSIONS: Although the findings herein reported have never been described before in patients affected by 4q12 mutations, we do not exclude that they could represent a manifestation of the peculiar genetic asset of the patient, related to dysfunction in pigment epithelium/neuroretinal metabolic activity.

Temporary Kerato-Prosthesis to Resolve Traumatic Loss of a Healed Corneal Button.

The aim of this study is to report a rare case of traumatic complete loss of a donor corneal button successfully resolved by a 24-h implantation of a temporary kerato-prosthesis. A healthy 30-year-old man with a history of prior penetrating keratoplasty (PKP) presented with an open globe following accidental contusive trauma with a ball, while he was playing football. At slit-lamp evaluation, complete dehiscence of the wound at the graft-host junction and complete corneal button loss was evident. The patient was immediately taken to the operating room, but a donor cornea was not available; therefore, a vitreo-retinal temporary kerato-prosthesis was implanted to close the eyeball until a new donor cornea was available. In case of complete dehiscence of the donor-host junction after PKP with corneal button loss, it is possible to use a temporary kerato-prosthesis to stabilize the eye and contain the intraocular structures. We recommend the availability of temporary vitreo-retinal kerato-prosthesis in the operating theatres of Corneal Surgical Units.

Bilateral retinoblastoma and osteogenesis imperfecta, a very rare association: Two cases.

INTRODUCTION: This case report presents two patients affected by a very rare association of bilateral retinoblastoma and osteogenesis imperfecta. CASE REPORT: Two Caucasian males with familial history and clinical signs of osteogenesis imperfecta came to our attention for bilateral leukocoria. The ocular fundus examination revealed bilateral retinoblastoma. Proper therapies were dispensed in order to achieve full regression. Genetic counseling was performed. DISCUSSION: The primary role of genetics in retinoblastoma pathogenesis in widely known, and different genes have been identified. Osteogenesis imperfecta is a rare connective tissue disorders, caused by mutated genes encoding for collagen. The single gene defect in osteogenesis imperfecta type VI is Serpin Family F Member 1 (SERPINF1), a neurotrophic factor for the neuronal differentiation in retinoblastoma cells. The association of bilateral retinoblastoma and osteogenesis imperfecta could be the result of the mutation of a single gene playing a role in a hypothetical common pathway.

Customized corneal crosslinking for treatment of progressive keratoconus: Clinical and OCT outcomes using a transepithelial approach with supplemental oxygen.

PURPOSE: To evaluate the outcomes of customized corneal crosslinking (CXL) for treatment of progressive keratoconus (KC) using a transepithelial approach with supplemental oxygen. SETTING: Siena Crosslinking Center, Siena, Italy. DESIGN: Prospective interventional case series. METHODS: Twenty-seven eyes of 24 patients (mean age 29.3 ± 7.3 years) with progressive KC underwent customized corneal CXL using a transepithelial approach with supplemental oxygen. Ultraviolet (UV)-A irradiation of 365 nm wavelength was delivered in an accelerated (30 mW/cm) pulsed-light UV light exposure in a 2-zone elliptical pattern. A total dose of 10 J/cm was delivered at the KC apex, surrounded by a broadbeam spot of 7.2 J/cm. After 0.25% riboflavin corneal soaking, the UV-A irradiation was initiated in the presence of additional oxygen (≥90% concentration) delivered through special goggles connected to an oxygen delivery system (flow-rate 2.5 liters per minute). Key outcome measures included corrected distance visual acuity (CDVA), keratometry (AK, K1, K2, and K-average), corneal higher-order aberrations, topographic and manifest cylinder, corneal optical coherence tomography (OCT) demarcation line, and endothelial cell count. RESULTS: Of the 27 eyes studied, a significant improvement of CDVA was recorded at 6-month follow-up visits, from baseline 0.19 ± 0.06 logarithm of the minimum angle of resolution (logMAR) to 0.11 ± 0.04 logMAR (P < .05). Significant flattening of steep keratometry (K2) was reported with mean change of -1.9 diopters (D) (P < .05), and coma values improved from 0.47 ± 0.28 µm to 0.28 ± 0.16 µm (P < .05). OCT revealed 2 demarcation lines at mean depths of 218.23 ± 43.32 µm and 325.71 ± 39.70 µm. CONCLUSIONS: In this series, customized CXL using a transepithelial approach with intraoperative supplemental oxygen resulted in clinically meaningful improvements in corneal curvature and CDVA without significant adverse events.

Iontophoresis Corneal Cross-linking With Enhanced Fluence and Pulsed UV-A Light: 3-Year Clinical Results.

PURPOSE: To assess 3-year safety and efficacy of enhanced-fluence pulsed-light iontophoresis cross-linking (EF I-CXL) in patients with progressive keratoconus. METHODS: This prospective interventional pilot study included 24 eyes of 20 patients, with a mean age of 23.9 years (range: 15 to 36 years). Iontophoresis with riboflavin solution was used for stromal imbibition. The treatment energy was optimized at 30% (7 J/cm2) and ultraviolet-A power set at 18 mW/cm2 × 6.28 minutes of pulsed-light on-off exposure, with a total irradiation time of 12.56 minutes. Uncorrected distance visual acuity (UDVA), corrected distance visual acuity (CDVA), corneal tomography, and corneal optical coherence tomography (OCT) at baseline and 1, 3, 6, 12, 24, and 3 years postoperatively were evaluated. RESULTS: At 3 years, average UDVA decreased from 0.50 ± 0.10 to 0.36 ± 0.08 logMAR (P < .05), average maximum keratometry decreased from 52.94 ± 1.34 to 51.4 ± 1.49 diopters (D) (Delta: -1.40 ± 0.80 D; P < .05), average coma improved from 0.24 ± 0.05 to 0.12 ± 0.02 µm (P = .001), and symmetry index decreased from 4.22 ± 1.01 to 3.53 ± 0.90 D. Corneal OCT showed demarcation line detection at 285.8 ± 20.2 µm average depth in more than 80% at 1 month postoperatively. CONCLUSIONS: The 3-year results of EF I-CXL showed satisfactory I-CXL functional outcomes, increasing the visibility and the depth of demarcation line closer to epithelium-off standard CXL. [J Refract Surg. 2020;36(5):286-292.].

In vivo confocal microscopy: qualitative investigation of the conjunctival and corneal surface in open angle glaucomatous patients undergoing the XEN-Gel implant, trabeculectomy or medical therapy.

PURPOSE: Assessing the quality of the ocular surface by in vivo scanning laser confocal microscopy (IVCM) in primary open angle glaucoma (POAG) patients treated by Xen 45 Gel Stent, medical therapy and trabeculectomy. METHODS: Retrospective, single-center, single-masked, comparative study including 60 eyes of 30 patients (mean age 61.16 ± 10 years) affected by POAG. Eyes were divided into 3 groups: Group 1 eyes underwent the Xen 45 Gel Stent procedure, Group 2 eyes were under medical therapy, Group 3 eyes were surgically treated by trabeculectomy. All patients underwent HRT II IVCM analysis of cornea, limbus, conjunctiva, sub-tenionian space and sclera. RESULTS: The Xen 45 Gel stent, if properly positioned in the sub-conjunctival space preserves goblet cells and limits ocular surface inflammation. Regular corneal epithelial cells with micro-cysts, and normo-reflective sub-epithelial nerve plexus are documented by IVCM. In sub Tenon's implants an alternative lamellar intra-scleral filtration is detectable. Combined surgical procedures show a noticeable number of inflammatory cells with rare micro-cysts. Post-trabeculectomy inflammatory reaction is more evident than Xen 45 Gel Stent associated surgical procedures, but less than medical therapy where a conspicuous presence of Langerhans cells, peri-neural infiltrates, marked loss of goblet cells and fibrosis is visible. CONCLUSION: Ocular surface inflammation was more notable in topical therapy than after trabeculectomy, which itself causes more inflammation than XEN Gel stents.