Total Retinal Detachment Research Articles

Ocular features associated with mutations in ATOH7 gene overlap those with familial exudative vitreoretinopathy.

To report the ocular findings in 3 patients with a mutation in the ATOH7 gene. The clinical findings were collected from the medical records including those for magnetic resonance imaging (MRI). Genetic testing of the ATOH7 gene was performed. Three patients of two families who had poor vision since infancy were studied. The 3 patients had varying degrees of intraocular vascular proliferation associated with advanced retinal detachments as falciform retinal folds or total retinal detachments. This state is referred to as congenital retinal nonattachment. One eye of a sibling had fluorescein angiographic findings of excessive branching of the retinal vessels and fluorescent dye leakage that were consistent with those of familial exudative vitreoretinopathy (FEVR). Bilateral hypoplasia of the optic nerve was found in all three patients by MRI. Genetic analysis showed a known in-frame deletion of the ATOH7 gene in all three patients. This is the first report of a patient with a mutation in the ATOH7 gene that had typical vascular patterns of FEVR in the peripheral retina. The ocular features associated with mutations in the ATOH7 gene overlap those with FEVR at both the early and advanced stages.

Coats’ Disease: Pathogenesis, Diagnosis, and Treatment

Coats disease is an idiopathic nonhereditary condition retinal vascular disorder characterized by retinal telangiectasia with intraretinal and/ or subretinal exudation. Unilateral involvement in young males is the typical presentation with most cases being diagnosed in the first and second decade of life and, if untreated, can lead to total retinal detachment and secondary glaucoma, sometimes requiring enucleation. The most common presenting complaints include decreased vision, strabismus, and leukocoria. This article describes the clinical features, pathophysiology, classification and staging, complications, differential diagnosis, and the management of Coats disease.

Neovascular Glaucoma Associated with Chronic Rhegmatogenous Retinal Detachment.

To demonstrate the clinical features and natural course of chronic retinal detachment-associated neovascular glaucoma. Ten patients, diagnosed with chronic retinal detachment-associated neovascular glaucoma during 2007-2016 were retrospectively investigated. Besides chronic retinal detachment, no patients had any neovascular glaucoma-predisposing conditions, such as carotid artery disease. Retinal perfusion status was evaluated from the fundus fluorescein angiography images. The mean age of patients was 57.5 years (range, 22-78 years). Complete retinal reattachment was achieved in three eyes, while partial or total chronic retinal detachment persisted in seven eyes. Wide-angle fundus fluorescein angiography revealed peripheral retinal capillary obstruction and severe nonperfusion. Neovascular glaucoma developed 213.4 months (range, 17-634 months) after retinal detachment. Three eyes received Ahmed valve implantation, while five eyes received intravitreal bevacizumab injection. Intraocular pressure was controlled in 10 eyes. Two eyes developed phthisis bulbi during follow-up. In eyes with a chronic retinal detachment history, iris neovascularization and neovascular glaucoma can develop due to retinal capillary obstruction and chronic retinal ischemia, even after achieving retinal reattachment. We suggest regular follow-up examinations for patients with chronic retinal detachment, particularly for eyes with retinal nonperfusion, as detected on fundus fluorescein angiography.

Combined Penetrating Keratoplasty and Vitreoretinal Surgery With Temporary Keratoprosthesis

Purpose: The aim of this study was to evaluate outcomes of vitreoretinal surgery with temporary keratoprosthesis combined with penetrating keratoplasty. Setting: The study was conducted at a university-based corneal and retinal disease referral practice, Ann Arbor, MI. Methods: This study is a retrospective analysis of 43 patients who underwent vitreoretinal surgery with a temporary keratoprosthesis combined with penetrating keratoplasty. Functional (best-corrected visual acuity and corneal transplant survival rate) and anatomical (clear corneal graft and retinal attachment) outcomes were measured. Results: Both corneal transplant and retinal attachment outcomes were evaluated. There was no difference in visual acuity, retinal attachment rates, or corneal transplant survival rates when comparing adult age, sex, and graft size. Pediatric eyes, however, were more likely to have a poor corneal transplant outcome. After an initial combined procedure with a temporary keratoprosthesis, 15 of 43 corneas (35%) remained clear and 23 (53%) retinas remained attached. With additional surgery, 19 of the corneas (44%) and 32 of the retinas (74%) had satisfactory outcomes. Best-corrected visual acuity (BCVA) initially improved in 23 patients (53%), with lasting improvement at final follow-up in 12 patients (28%). Twenty-five patients (58%) obtained equal or improved vision at last follow-up as compared to the presenting vision. The primary causes of poor visual acuity outcome were phthisis (49%) and retinal detachment (26%). Corneal decompensation and hypotony were often associated with phthisis and, therefore, resulted in a poor visual outcome. Trauma (53%) also resulted in an increased rate of phthisis. However, those eyes sustaining trauma, which did not become phthisical, had better visual outcomes. Silicone oil usage improved retinal reattachment rates and had no deleterious effects on corneal transplant survival. Conclusions: The combined procedures of vitreoretinal surgery with temporary keratoprosthesis and penetrating keratoplasty can salvage severely damaged eyes and provide functional vision in some patients. Factors predicting worse final visual outcome include preoperative total retinal detachment, severe chronic retinal pathology in the absence of trauma, and postoperative phthisis or retinal detachment.

Retinoblastoma associated with total exudative retinal detachment: Treatment and outcomes.

To study the clinical presentation, treatment, and outcomes of eyes presenting with retinoblastoma (RB) and total retinal detachment (RD). Retrospective study of 50 eyes in 43 patients. Mean age at presentation was 15 months (median, 9 months). RB associated total RD was unilateral (n=36; 84%) or bilateral (n=7; 16%). The mean tumor basal diameter was 17 mm (median, 18 mm) and the mean tumor thickness was 13 mm (median, 12 mm). Associated features included subretinal seeds (n=26; 52%), vitreous seeds (n=13; 26%), and subretinal exudation in (n=4; 8%). Based on 8th edition of American Joint Committee on Cancer classification, the tumors were classified as cT2a (n=19; 38%), cT2b (n=28; 56%), or cT3c (n=3; 6%). Primary treatment included intravenous (n=48; 96%) or intra-arterial chemotherapy (n=2; 4%). Over a mean follow-up period of 30 months (median, 29 months; range, 7 to 62 months), RD resolved in 41 (82%) eyes, tumor recurrence was noted in 39 (78%) eyes, globe salvage was achieved in 35 (70%) eyes and one (2%) patient died due to metastasis. Relatively high tumor recurrence rate is noted in RB presenting with total RD. With appropriate treatment, 70% of the globes can be salvaged.

Management and Outcomes of Posterior Persistent Fetal Vasculature

To describe the clinical features, management and outcomes of posterior persistent fetal vasculature (PFV) and suggest a management algorithm. Retrospective consecutive case series. All children diagnosed with posterior PFV and treated or followed at the Rothschild Foundation Hospital in France between June 2011 and September 2021. Retrospective analysis of the clinical characteristics of posterior PFV. We reported at diagnosis: age, gender, presenting symptoms, intraocular pressure (IOP), visual acuity (VA). Patients were divided in four group depending on severity and involvement or not of the anterior segment. We reported the vitreoretinal surgical techniques used. Anatomical results, ocular hypertension, BCVA, presence of post-operative adverse events and additional surgical interventions were recorded at each follow-up visit. A total of 96 patients were included. Median age at diagnosis was 8 months (mean 18.9±30.9 months) with a mean follow-up of 27±31.2 months. Although PFV is often an isolated disease, it was associated with a systemic disease in 8% of cases. Posterior PFV was associated with anterior involvement in 62 eyes (64%). Forty-one eyes (42.7%) were microphthalmic and were more frequently associated with severe PFV [53% vs. 25%; (p=0.01)]. Surgery was performed in 85 patients (89%). Of them, 69 (81%) were a total success, 5 (6%) were a partial success due to a persistent limited peripheral retinal detachment (RD), and 11 (13%) were a failure due to persistent total RD after surgery. Twenty-four eyes presented post-operative adverse events including ocular hypertension requiring eye drop medication (6.6%), secondary cell proliferation around the IOL (7.7%), intravitreal hemorrhages (6.6%), persistent tractional RD (9.9%). A second surgery was performed in 15 patients (16%). At last follow-up, VA could be measured in logMAR in 43 children (45%), was light perception in 21 eyes (22%), and no light perception or impossible to assess in 32 eyes (33%). In our case-series, most of patients presenting PFV with posterior involvement received complex vitreoretinal surgery. Goals of the surgery varies, and include retinal flattening, reduction of vitreoretinal traction, freeing of the visual axis and aesthetic concerns. We proposed a surgical and medical management algorithm for PFV.

Primary Subretinal Seeding in Retinoblastoma: Clinical Presentation and Treatment Outcomes

Introduction: The aim of this study was to describe the clinical features and treatment outcomes of primary subretinal seeding (SRS) in patients with intraocular retinoblastoma (RB). Methods: Descriptive analysis of primary SRS in 47 patients (50 eyes) with RB was performed. Results: Mean age was 19 months (range, 2–72 months), and 55% (n = 26) of the subjects were male. At presentation, the SRS involved two or more quadrants in 88% of eyes. Most seeds appeared yellowish gray (66%) and round to oval in shape (48%). Two-thirds of SRS were seen posterior to the equator and within 5 mm from the main tumor. Associated features included subretinal fluid in 50 eyes (100%), total retinal detachment in 28 eyes (56%), and vitreous seeds in 20 eyes (40%). Treatment included intravenous chemotherapy (IVC) (n = 47; 94%), enucleation (n = 2; 4%), and intra-arterial chemotherapy (n = 1; 2%). SRS treatment included adjunct use of focal transpupillary thermotherapy and/or cryotherapy (n = 20; 40%). Retinal tumor control was achieved in 36 eyes (76%) with 32 eyes (78%) showing a type 3 regression pattern, while SRS completely regressed in 24 (48%) eyes, partially in 15 (30%) and worsened in 2 (4%) eyes. Over a mean follow-up of 30 months (range, 3–68 months), SRS recurrence was noted in 12 eyes (29%), globe salvage was achieved in 39 eyes (78%), and 1 (4%) patient died of presumed metastasis. Conclusion: Primary SRS pose a therapeutic challenge during RB treatment. The SRS responds moderately to systemic IVC, with one-third cases showing SRS recurrence and one-fifth ultimately requiring enucleation.

18p Deletion Syndrome With Concurrent Frizzled-4 Mutation: Surgical Management of Bilateral Stage 5 Traction Retinal Detachment.

We report a case of a patient with 18p deletion syndrome and concurrent FZD4 (frizzled-4) mutation. A 6-month-old boy with known 18p deletion syndrome presented with abnormal eye movements in both eyes and an inability to track objects. The patient had a history of laryngomalacia, hypotonia, and developmental delay. Examination showed bilateral total exudative and traction retinal detachment with anomalous retinal vascular development noted on widefield fluorescein angiography. Genetic analysis identified a concurrent FZD4 mutation (c.205C>T [p.H69Y]). Both eyes underwent 25-gauge limbal vitrectomy, lensectomy, and membrane peeling, and the posterior pole successfully reattached with improvement in visual function. The 18p region contains the LAMA1, TGIF1, and APCDD1 genes, which are involved in the vascular basement membrane and Wnt/β-catenin signaling, which may have potentiated the particularly severe familial exudative vitreoretinopathy phenotype. We present the clinical findings, imaging analyses, and surgical management of concurrent 18p deletion syndrome and FDZ4 mutation. The overlap in molecular mechanisms of the multiple gene products may potentiate the severe phenotype. [Ophthalmic Surg Lasers Imaging Retina 2023;54:284-290.].

Are all primary retinal detachments the same? Anatomic and functional differences between phakic and pseudophakic patients

BackgroundGiven differences in the pathogenic mechanisms underlying primary retinal detachment (RD) as a function of the status of the lens, the objective was to explore differences between pseudophakic and phakic patients with primary RD.MethodsA retrospective study including 821 patients who underwent surgery for RD [491 cases of phakic and 330 of pseudophakic RD (pRD and psRD, respectively)] in our hospital between 2012 and 2020.ResultsThe mean age was 58.24 ± 12.76 years in the pRD group and 66.87 ± 11.18 years in the psRD group (p = 0.001). There were more men in both groups (70% and 64.23% of pseudophakic and phakic patients, respectively; p = 0.07). The most common location for the RD was superior in both groups (43.94% and 51.93% of pseudophakic and phakic patients, respectively), rates of inferior and total RD were somewhat higher in the psRD group (31.82% and 13.33% in pseudophakic vs 25.25% and 11.0% in phakic patients, p = 0.001). In pseudophakic and phakic patients respectively, macular involvement in 69.09% and 62.73% of cases (p = 0.067). Proliferative vitreoretinopathy was significantly more common in the psRD group (7.88% vs 3.6% in phakic patients, p = 0.01).The rate of final anatomic reattachment differed markedly between groups, with a higher rate in phakic (94.03%) than pseudophakic (87.27%) patients (p = 0.001).ConclusionsThe specific pathogenic mechanism involved in psRD seems to be responsible for worse evolution characteristics which are associated with poorer final anatomic and functional outcomes in pseudophakic patients.

Total exudative retinal detachment in a child with pars planitis- a challenging case with optimistic results

We describe a case report of pediatric pars planitis complicated with massive exudative retinal detachment (ERD). A 7-year-old presented with visual acuity (VA) in the right eye (RE) of 6/9 and in the left eye (LE) 6/15. Fundoscopy revealed BE inferior retinoschisis, vitritis and snowballs. He was treated with systemic immunosuppressants. RE retinoschisis resolved within 2 months. Three years later presented with LE VA 6/60 and total ERD. Systemic and intravitreal steroids were administered. Due to refractoriness, he underwent 360° scleral buckle and drainage of subretinal fluid. No retinal breaks or traction were detected. Five months postoperatively LE VA was 6/7.5. Long-term stable outcome was maintained. We report a challenging total ERD as a complication of pars planitis. Although extensive and non-responsive to medical therapy, complete resolution and improvement in vision was achieved with surgical intervention and systemic immunosuppression. We speculate that uncontrolled chronic vasculitic process culminated in diffuse ERD.

Anatomical and functional results of surgical treatment of familial exudative vitreoretinopathy in children

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary disease characterized by abnormal angiogenesis, presence of avascular zones on the periphery of the retina, and clinical manifestations ranging from an asymptomatic course to total retinal detachment. Surgical interventions are performed to eliminate vitreoretinal traction, epiretinal membranes, and retinal detachment. Studies of the surgical treatment outcomes of patients with FEVR are limited and findings are ambiguous
 AIM: To analyze surgical treatment outcomes of different stages of FEVR in childhood.
 MATERIAL AND METHODS: From January 2012 to October 2021 at the Helmholtz National Medical Research Center of Eye Diseases, surgical treatment was performed in 35 eyes of 33 patients aged 11 months15 years (average, 7 years). The effectiveness of treatment was evaluated 12 months after the treatment, and patients were examined every 36 months for 15 years (average 2 years).
 RESULTS: Аfter the primary surgery, a decrease in retinal traction in the posterior pole and periphery was achieved in all cases. Complete and incomplete reattachment was achieved in 30% and 70% of the eyes at stage 3 and in 12.5% and 87.5% of the eyes at stage 4, respectively. The long-term effectiveness rates of the intervention in stages 2, 3 (including complete and incomplete reattachment), and 4 were 100%, 87.5%, and 73.3%, respectively.
 Increases in the best-corrected visual acuity (BCVA) were observed in 83%, 50%, and 28.6% of the eyes in stages 2, 3, and 4, respectively. In other cases, successful surgical treatment allowed the preservation of visual functions. During the follow-up, visual acuity of 0.1 or more was maintained in 100%, 85.7%, and 36% of the eyes at stages 2, 3, and 4 of FEVR, respectively.
 CONCLUSION: Аnatomical and functional results of surgical treatment of FEVR correlate with the disease stage: the efficiency is greater in stage 2, and it was organ-preserving surgery in stage 5. To increase the effectiveness of treatment, early diagnosis of FEVR, laser coagulation of avascular zones, and active vessels are necessary, which makes it possible to stop the progression of the early stages of FEVR in 70%100% of cases and enables regular monitoring of patients for the timely detection of indications for additional laser coagulation or surgical intervention.

A delayed diagnosis of ocular toxocariasis presenting as total monocular retinal detachment in an immunocompetent 57-year-old male

A healthy 57-year-old man present to outpatient ophthalmological services in southwestern Connecticut with a 16-month history of unilateral periorbital pain, photophobia, and progressively decreasing visual acuity in his left eye. Prior extensive work-up for uveitis in his home state of Mississippi had yielded no etiology for his symptoms, and empiric therapy with glucocorticoid eye drops had not halted their decline. Fundoscopic examination demonstrated total combined retinal detachment of the left eye. Extensive repeat serological and immunological screening was positive for Toxocara immunoglobulin-G, consistent with a diagnosis of ocular toxocariasis, and the patient completed a course of albendazole with stabilization of symptoms. Despite toxocara being endemic to the United States, diagnoses of ocular toxocariasis are extremely uncommon, with the majority of cases occurring in young children. This unusual case of ocular toxocariasis in a healthy adult serves to illustrate that significant, irreversible morbidity can result from lack of both clinician and public awareness of this parasitic infection.

Anatomical and visual outcome of vitrectomy for giant retinal tear detachment with proliferative vitreoretinopathy: A retrospective, consecutive case series

Aim: To report the anatomical and visual outcome of giant retinal tear (GRT) associated retinal detachment (RD) with advanced proliferative vitreoretinopathy (PVR) and determine the effect of presenting clinical and surgical variables Method: Retrospective, non-comparative, consecutive, interventional case series of vitreoretinal surgeries performed in a private tertiary eye unit. Patient demographics, preoperative, and intra-operative variables were assessed and analyzed. Inclusion: Eyes which had surgery for previously unoperated GRT RD with PVR and had > 3 months of follow up. Exclusion: Other primary and secondary forms of RD with no GRT. Results: Thirty-six eyes of 36 patients were evaluated. Male: female ratio = 5:1. Mean age of 45.53 ± 13.2 years (range 12 - 65 years). Left eye, twenty-three eyes (63.9%). Rate of advanced PVR C and D was 83%, four quadrant (total RD) 55.6%, macula detachment 91.7%, giant tear size was 90 to 180 degree and > 180 degree in 55.6% and 33.3% respectively. Single surgery attachment rate was 41.7% and final attachment after a second surgery was 86.1%. Visual outcome was CF or better in twenty-three eyes (63.9%). Recurrent RD in 58.3% was due to postoperative PVR. Gender, age, laterality, PVR grade, giant tear size, quadrants affected by RD had no impact on anatomical outcome (p> 0.05). Significantly, scleral buckle (SB) use did not reduce rate of recurrent RD and had no significant effect on anatomical outcome (p > 0.05). Conclusion: GRT RDs have a higher rate of PVR compared to more commonly encountered RRD. When treating GRT RD with advanced PVR, meticulous membrane removal should be accomplished using vital dyes to aid visualization. This will reduce recurrence of postoperative PVR. Pre-, intra- and post-operative factors, including use of a SB did not affect single surgery success. Visual improvement is limited by the occurrence of PVR.

Acute retinal necrosis in a patient on immunosuppressive treatment for COVID-19 pneumonia: a case report

BackgroundPatients with coronavirus disease 2019 (COVID-19) occasionally develop ocular complications. We report a case of acute retinal necrosis (ARN) caused by Epstein–Barr Virus (EBV) that developed in a patient who had severe acute respiratory syndrome due to SARS-CoV-2 infection.Case presentationA 68-year-old woman complained of floaters and blurred vision in her right eye as she was receiving systemic prednisolone for COVID-19 pneumonia under isolation in our hospital. The patient visited an ophthalmologist following her discharge from the hospital and after the 2 weeks of isolation had ended. At the initial examination, her best-corrected visual acuity (BCVA) was 20/100 in the right eye, and the eye showed moderate anterior segment inflammation and vitreous opacities. Treatment was initiated with topical 0.1% betamethasone and 1.5% levofloxacin. After 1 month, the inflammation in the right eye decreased and her BCVA improved to 20/40. However, on day 48 from her initial visit, the inflammation in her right eye worsened and her BCVA decreased to 20/2000 by day 80. Pars plana vitrectomy with silicone oil tamponade was performed to remove the vitreous opacities, and expanded white exudates peripherally and retinal vessels with white sheathing suggestive of acute retinal necrosis (ARN) were seen intraoperatively. Analysis of the vitreous sample revealed EBV positivity on polymerase chain reaction. The patient was diagnosed with EBV-associated ARN and treated with systemic steroids and valaciclovir. The ocular inflammation gradually decreased, and she was discharged from the hospital. However, a week later, the inflammation in the right eye markedly worsened. Despite another course of steroids, the inflammation worsened, resulting in total retinal detachment and absolute glaucoma. Because of the severe pain, the right eye was enucleated.ConclusionsClinicians should be aware that COVID-19 and immunosuppressive treatment can reactivate EBV in the eye.

Addition of intravitreal carboplatin with melphalan for management of vitreous seeding in retinoblastoma.

To evaluate the efficacy and toxicity of intravitreal carboplatin plus melphalan for the treatment of vitreous seeds in eyes with retinoblastoma (RB). This retrospective series at a tertiary referral center included 22 consecutive RB patients who had received intravitreal carboplatin (16μg per 0.05ml) combined with melphalan (30μg in 0.03ml) [IVi (Ca-Me)] for treatment of vitreous seeds. Tumor control and drug toxicities were recorded. There were 22 eyes of 22 patients, divided into primary group (n = 13) without history of previous intravitreal chemotherapy (IViC) and refractory group (n = 9) with history of previous IViC using melphalan and/or topotecan. The demographics and clinical findings of the primary and refractory groups did not differ significantly. The 6-month follow-up revealed complete vitreous seed control (77% vs. 89%, p = 0.47). Vitreous seed recurrence was detected in 1 eye of each group at 6months. During the next 18-month follow-up period, no recurrence of seed was observed. The response to IVi (Ca-Me) was not significantly influenced by previous IViC (p = 0.70), primary systemic or intra-arterial chemotherapy (p = 0.45), or the type of regression (p = 0.35). The most common tumor treatment complications were retinal detachment (RD) (n = 2), early hypotony (n = 2) and late hypotony (n = 4, unrelated), cataract (n = 2), and severe pigment dispersion (n = 1). Enucleation was performed in 8 eyes, for total RD (n = 1), phthisis bulbi (n = 5), and extensive solid tumor recurrence (n = 2). There was no case of orbital invasion, systemic metastasis, or death. Based on this interventional case series for primary and refractory vitreous RB seeds, carboplatin plus melphalan therapy may be effective with few toxic side effects.

Ocular schwannoma masquerading as amelanotic choroidal melanoma

A 29-year-old male was incidentally diagnosed with amelanotic choroidal melanoma in the nasal quadrant of the right eye following an ocular examination due to accidental entry of an insect in the eye. The patient underwent right eye stereotactic Gamma Knife radiosurgery. The tumor mass showed regression six months after therapy. After 12 months, the patient presented again with diminution of vision with recurrence of choroidal mass and total retinal detachment. He underwent a right eye enucleation. Histopathological examination revealed spindle-shaped cells arranged in fascicles and immune stain positivity for S-100 and negative for HMB-45 and Melan-A—suggestive of schwannoma.

Role of Counselling in Deciding the Fate of a Patient with Retinal Detachment: A Case Report

A 28-year-old female, presented with complaints of diminution of vision in left eye and floaters and flashes in right eye. Her visual acuity was 6/9 in right eye and counting fingers- ½ meters in left eye. Patient had high myopia and her posterior segment showed total retinal detachment in left eye. She was advised for surgery and visual prognosis was explained. The patient however was not convinced and was lost to follow up. The patient came back one year later with loss of vision. Her visual acuity in both eyes was then perception of light +ve and projection of rays inaccurate. She gave history of switching to alternative medicine in the intervening period. Had our counselling been proper and treatment initiated at the right time, we could have restored vision in left eye and also retain some useful vision in the right eye. We aim to highlight the importance of counselling through this case report. Keywords: prognosis, compliance, counselling

Stereotactic Gamma Knife® Radiosurgery of Intraocular Retinoblastoma: Six-Year Experience.

BackgroundExternal beam radiotherapy for resistant retinoblastoma is now seen as a last resort to saving the eye because of the risk of severe side effects: secondary cancers and cosmetic problems of orbital bone growth retardation. To reduce such complications, treatment modalities have shifted towards new radiation therapy techniques. No information on single fraction Gamma Knife® radiosurgery (GKRS) for intraocular retinoblastoma exists.Materials and methodsEighteen children (19 eyes) with retinoblastoma were treated with GKRS. The mean age at the time of treatment was 35 months (from 12 to 114 months). Before GKRS, all routes of chemotherapy delivery were held in all cases. The eligibility criteria for GKRS were retinoblastomas not amenable either to systemic or local chemotherapy and local ophthalmological treatment, retinoblastomas too large for conventional local methods, and inability to perform intraarterial chemotherapy. Conventional external beam radiotherapy was excluded in the presented cases, given the possible complications mentioned above. In every case, eye removal was suggested to the child's parents, but they flatly refused. GKRS was proposed as the last chance to save the eye (in four cases, it was performed on the only eye). The median prescribed dose was 22 Gy (interquartile range [IQR]: 18-35 Gy), and the median prescribed isodose was 50% (IQR: 36-90%).ResultsLocal control was achieved in 79% of cases (complete tumor regression in 69%, incomplete regression in 10%). Two eyes (10.5%) could not be preserved and had to be enucleated due to the tumor recurrence. Two eyes (10.5%) developed secondary complications (total vitreous hemorrhage, retinal detachment, and iris neovascularization), making adequate tumor control nearly impossible. Overall, 15 eyes (79%) were preserved, and four eyes (21%) were enucleated after GKRS with no signs of tumor recurrence and metastasis in the mean follow-up of 41 months. No acute radiation side effects occurred in any patient after GKRS. Ten children (10 eyes, 53%) were diagnosed with vitreous hemorrhage from mild to severe. Three eyes presented with optic neuropathy one year after GKRS, and four eyes developed retinopathy. Radiation-induced cataract occurred in two eyes. There were no cases of secondary glaucoma or keratopathy in our study. All patients and eyes treated by GKRS were stable within 41 months (from seven to 74 months).ConclusionsSingle fraction Gamma Knife® radiosurgery may be a reasonable salvage treatment for resistant and recurrent retinoblastoma as an alternative approach to enucleation in selected cases. GKRS should be considered in retinoblastoma management.

Macular atrophy following macular hole surgery assisted by Membrane Blue-Dual: A case series.

The aim of this study is to describe the clinical and multimodal imaging findings in patients with macular atrophy following macular hole surgery assisted by Membrane Blue Dual. This study is a monocenter, retrospective, observational case series that included patients who presented macular atrophy following macular hole surgery. Among the patients included in this study, four were operated for idiopathic macular hole and one for total retinal detachment associated with macular hole. In all patients the internal limiting membrane was brittle and adherent and multiple stains were required. One month postoperatively all patients showed a reduced visual acuity excepted the patient with total retinal detachment. At fundus examination all patients showed patchy atrophy with a mottled hypo- and hyperpigmented appearance in the macular region. Optical coherence tomography scans demonstrated a closed macular hole with retinal thinning, disruption of the external retinal layers and irregular retinal pigment epithelium thickening. Fundus autofluorescence showed a well-defined area of both hypo- and hyper-autofluorescence involving the macular area. Macular atrophy following Membrane Blue Dual assisted internal limiting membrane peeling represents a severe complication that vitreoretinal surgeons should be aware of and that should be taken into account in preoperative evaluation and surgical procedure planning. In order to reduce the risk of this complication, we recommend to ensure the best conditions of visibility, to reduce as much as possible the intensity and the distance of the endoillumination from the retina, and to use as little dye as possible.

Case report: tuberous sclerosis and persistent hyperplastic primary vitreous

BackgroundPersistent hyperplastic primary vitreous (PHPV) in a patient with tuberous sclerosis (TS) has been described in one previous case report in 1999. Otherwise, there is no literature around this potential association. We describe a case of an infant with TS and PHPV.Case presentationAn 11-month old male was under investigation for leukocoria, microphthalmia and suspected PHPV after being seen in ophthalmology clinic. He presented to hospital with seizures and was diagnosed with TS on imaging. Imaging also showed the known microphthalmia and a mass associated with the lens. Subsequent paediatric ophthalmology review and examination under anaesthesia confirmed microphthalmia, PHPV and a retrolental mass which was thought to represent total retinal detachment or a retinal hamartoma within a retinal detachment.ConclusionsThis is the second case report of PHPV in a patient with TS. The previous case report postulated that the atypical location of the retinal hamartoma was secondary to the abnormal globe development in PHPV.