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PubMed2005

Restoration of enophthalmos in anophthalmic socket by HTR polymer.

A 2-year-old girl had undergone preoperative radiotherapy and enucleation without implantation for retinoblastoma in her right eye. She presented with supratarsal depression after secondary hydroxyapatite implantation. Computed tomography revealed insufficient right orbital volume, relative to left orbital volume. Injections of Bioplant hard tissue replacement synthetic bone filled the subperiosteal space of the orbital floor and lateral and medial wall for supratarsal augmentation. This had the desired effect: The filler lasted without sequela at least through 1.5 years of follow-up. Hard tissue replacement was also used to fill the remaining socket void and enhance the facial ridge width.

Biocompatible Materials↗
PubMed2006

Retinoblastoma in New South Wales 1975 to 2001.

PURPOSE: To examine the epidemiology of retinoblastoma in New South Wales (NSW), from 1975 to 2001, comparing the incidence with other parts of the developed world. METHODS: Examination of medical files for patients presenting to NSW retinoblastoma treatment centers between 1975 and 2001. Comparisons to international data were made. RESULTS: One hundred twenty-eight patients [63 (49.2%) male and 65 (51.8%) female] presented. The mean annual incidence of retinoblastoma in NSW was 8 per million children aged 0 to 6 years, per year. CONCLUSIONS: The incidence of retinoblastoma in NSW is similar to other parts of the developed world.

Age of Onset↗
PubMed2007

Chemoreduction for intraocular retinoblastoma in Malaysia.

In the last decade, chemotherapy in combination with focal therapy (chemoreduction) has been increasingly used in intraocular retinoblastoma to avoid enucleation and radiotherapy. The aim of this study was to assess the feasibility and outcome of chemoreduction in Malaysian children with retinoblastoma. This was a prospective study from August 2001 to January 2006. Twenty children (25 eyes) were given 4 cycles of chemoreduction, after which the response was assessed. Fourteen eyes showed a complete response, 10 eyes showed a partial response, and 1 eye had progressive disease. Twelve eyes developed progressive disease later, 9 after an initial complete response and 3 after a partial response. Overall, progressive disease occurred in 52%. There were 2 treatment failures, in Reese-Elsworth groups 3 and 4. Both eyes required enucleation. One eye in group 5 required second line chemotherapy to achieve a complete response. No eyes were irradiated. Five children (25%) defaulted follow-up, one of whom returned with disseminated disease. In conclusion, 4 cycles of chemoreduction achieved a durable complete response in only 12% of eyes. Chemoreduction is feasible in Malaysia but requires good patient compliance and close follow-up.

Antineoplastic Combined Chemotherapy Protocols↗
PubMed2005

Primary glial tumor of the retina with features of myxopapillary ependymoma.

We report a primary retinal tumor with features of myxopapillary ependymoma. The lesion occurred in a 33-year-old man with a long history of phthisis bulbi and a more recent history of pain to the right eye. Enucleated ocular globe revealed a lesion occupying most of the retinal surface. Histologically, the retina was replaced by a tumor composed of spindle cells with fibrillary cytoplasm and round to ovoid nuclei forming fascicles, perivascular pseudorosettes, microcysts, and deposition of extracellular mucins. Calcifications, metaplastic bone, and lymphoplasmacytic inflammatory infiltrate were also seen. Tumor cells expressed GFAP and S-100 and to lesser extent carbonic anhydrase II. The immunoreaction for EMA showed diffuse granular positivity, decorated a few extracellular lumina, and highlighted intracytoplasmic lumina in a few cells. Ultrastructurally, there was accumulation of extracellular material between cells and around capillaries, long interdigitating cytoplasmic processes, extracellular lumina packed with microvilli, a few junctions evident around lumina, and some ciliary basal bodies and ciliary basal rootlets. As control cases, we also investigated expression of EMA and carbonic anhydrase II in an ocular globe with retinal gliosis and three cases of myxopapillary ependymoma of the cauda equina. The lesion described here represents the first example of retinal tumor with features of myxopapillary ependymoma. Pathologic features and particularly expression of carbonic anhydrase II suggest a derivation from intrinsic glial cells of retina otherwise known as Muller cells.

Adult↗
PubMed2005

Reconstruction of the anophthalmic orbit by orbital osteotomy and free flap transfer.

It is a challenging problem for the plastic surgeon to perform adequate reconstruction of the postenucleation and radiated orbit of patient with retinoblastoma. Rebuilding of the orbital structure, reconstruction of the eye socket, and restoration of periorbital volume are required in this kind of orbital reconstruction. In this study, we reviewed 12 patients with hypoplastic orbital deformities who underwent orbital osteotomy and free flap transfer. Reconstruction of the orbital cavity was achieved using "C" osteotomy of the lateral portion of the orbit in mild and moderate cases or transverse "U" osteotomy of the lateral wall, roof, and floor by an intracranial approach in a portion of severe cases. Socket reconstruction and periorbital volume restoration was achieved using dorsalis pedis free flap transfer by microsurgery. What we concluded from our experience was that the combination of orbital osteotomy and free flap transfer could meet the multirequirements for anophthalmic orbital reconstruction, including both orbital bony enlargement and soft tissue restoration.

Adolescent↗
PubMed2025

Genetic Newborn Screening for Retinoblastoma: A Belgian Initiative Baby Detect.

Baby Detect Project, started in September 2022, aimed to create a newborn screening test using targeted next-generation sequencing for all early-onset, treatable, and serious conditions. The elaborated gene panel covers 405 genes, associated with 165 genetic conditions, and includes RB1, linked to retinoblastoma, the only oncological disease tested for. Germline RB1 mutations concern around 50% of all retinoblastoma cases and 100% of the most severe, bilateral cases. Ninety percent of them occur de novo, which delays the diagnosis by about a year with subsequent loss of vision and sometimes the eye itself. Detecting children with germline RB1 mutation at birth would greatly improve functional and anatomic outcomes, limiting invasive treatments and general anesthesias through early childhood. We discuss herein the novel approach of population screening, the rationale for newborn testing for RB1 mutations, the incidence of expected cases, the reliability of the test and its costs. The next step is to move to a nation-scale population; this initiative marks a landmark in retinoblastoma patients' care.

Humans↗
PubMed2026

Bibliometric analysis of retinoblastoma research over the past decade.

BACKGROUND: Retinoblastoma (RB), the most prevalent primary intraocular malignancy in children, has emerged as a model disease for exploring the molecular underpinnings of pediatric cancer. Over the past decade, research in this field has accelerated, propelled by advances in genomics, diagnostic imaging, targeted therapies, and global scientific collaboration. METHODS: This study systematically retrieved RB-related publications from 2015 to 2024 using the Web of Science Core Collection. A total of 4990 articles were included. CiteSpace and VOSviewer were employed to perform bibliometric and visual analyses across multiple dimensions, including countries, institutions, authors, journals, and thematic evolution. RESULTS: The United States and China were identified as the leading contributors, jointly accounting for over 40.55% of all publications. US-based journals led in both publication volume and citation impact, underscoring their global influence. Cluster analysis revealed 4 major research domains: clinical diagnosis, treatment, and prognosis; molecular mechanisms and signaling pathways; gene and protein function studies; and research methodologies and experimental models. CONCLUSION: RB research is transitioning into an era of precision oncology, characterized by molecular subtyping, novel therapeutic targets, and individualized treatment approaches. While diagnostic and therapeutic outcomes have markedly improved in high-income countries, significant disparities persist in low- and middle-income regions due to limited access to early detection and comprehensive care. Future priorities should include the refinement of preclinical models, investigation of drug resistance mechanisms, and promotion of international collaboration to standardize diagnostic and therapeutic strategies. These efforts are critical to improving global outcomes for children with RB.

Retinoblastoma↗
PubMed2004

In vitro fertilization and childhood retinoblastoma.

AIMS: To estimate the frequency of childhood retinoblastoma among children conceived by in vitro fertilization (IVF). METHODS: Using the United Kingdom-based General Practice Research Database (GPRD), we identified all live births, cases of retinoblastoma and IVF procedures occurring between January 1989 and December 2001. RESULTS: We identified 0 cases of retinoblastoma among 176 children conceived by IVF (Risk = 0/176, one-sided 97.5% CI 0, 0.02) and 24 cases of retinoblastoma diagnosed before age 5 years among 358,094 children not conceived by IVF (6.7 cases per 100,000 births [95% CI 4.5, 10]). CONCLUSIONS: These data provide some reassurance that children born as a result of IVF are not at markedly increased risk of retinoblastoma.

Adult↗
PubMed2005

Mothers' perceptions of children's quality of life following early diagnosis and treatment for retinoblastoma (Rb).

We describe the Quality of Life (QoL) and IQ of survivors of retinoblastoma (Rb), both in relation to the normal population and between subgroups of Rb patients differing in relative risk (i.e. unilateral vs. bilateral disease). The sample included 54 children (28 males, age-range 8-16 years) and their mothers. Mothers completed standardized questionnaires to report their own QoL and that of their child. Children completed a brief IQ test. Compared with population norms, mothers reported lower levels of QoL for their child on total QoL and for sub-scales measuring Physical and Psychosocial function. Mothers reported their own QoL to be comparable or higher than norms on all but one of eight sub-scales (energy/vitality). Compared with population norms, children with no visual impairment scored in the normal range for tasks measuring Verbal IQ, but below the mean on tasks measuring Performance IQ. According to their mothers, survivors of Rb have excellent school attendance and take part in most school activities. However, based on standardized questionnaire, they show compromised QoL. We consider that excellent survival rates in Rb are matched with good QoL according to mothers' report.

Adolescent↗
PubMed2004

Retinoblastoma in Victoria, 1976-2000: changing management trends and outcomes.

PURPOSE: To describe changes in the management of retinoblastoma in Victoria and to review the effect of newer, conservative treatments on preservation of eyes, visual outcome and mortality by comparing a similar group of patients treated over successive time intervals. METHODS: A retrospective analysis of all cases of retinoblastoma diagnosed and treated in Victoria between 1956 and 2000 was conducted. Historical data on 77 cases previously published by O'Day et al. was used for the period 1956-1976 (series 1). Data on 88 cases recorded in the Royal Children's Hospital (Melbourne) Retinoblastoma Database was used for the period 1976-2000. The latter group was subdivided into those treated between 1976 and 1989 (series 2), prior to the advent of modern eye saving treatments, and those treated subsequent to their introduction from 1990 to 2000 (series 3). RESULTS: In unilateral retinoblastoma, final enucleation rates for 1956-1976 (series 1) and 1976-1989 (series 2) were almost identical, being 98% and 97% of affected eyes, respectively (P = 1.00). Despite the newer treatments used after 1990 (series 3), 88% of affected eyes were still enucleated, representing a statistically similar outcome to series 2 (P = 0.33). In bilateral retinoblastoma, primary enucleation of the more involved eye was similar for series 1 (84%) and 2 (80%) but series 3 (41%) was substantially less than series 2 (P = 0.04) following the increased use of conservative treatments. In series 3, 59% of more involved eyes were treated conservatively compared with 16% (P = 0.007) and 20% (P = 0.04) for series 1 and 2, respectively. Despite attempts at eye salvage, the failure rate was higher in series 3 (29%) yielding a final enucleation rate of 70%, which represented a modest downward trend in the numbers of eyes finally enucleated; 84% (series 1), 73% (series 2) and 70% (series 3) (test for trend, P = 0.33). Bilateral enucleation rates were significantly lower, from 36% and 30% in series 1 and 2, respectively, to 7% in series 3 (test for trend, P = 0.02). As a consequence, more eyes were preserved over time, being 20/50 (40%) in series 1, 15/30 (50%) in series 2 and 21/34 (62%) in series 3. Comparison of visual outcome was hampered by incomplete data in series 1 but it appeared series 2 and 3 achieved better visual acuities with 67% and 62% of preserved eyes in bilateral cases measuring equal to or better than 6/12. Mortality rates in all series were low, being 7.8% in series 1, 4.5% in series 2 and nil in series 3. CONCLUSIONS: Following the introduction of new conservative treatments, there has been an increase in preservation of eyes and improved visual outcome, and a dramatic decrease in numbers of bilateral enucleations without adversely affecting survival.

Antineoplastic Agents↗
PubMed2003

Retinal angioma associated with von Hippel-Lindau disease.

Von Hippel-Lindau disease is a multi-system disorder that can produce hamartomas (benign tumour-like nodules) of the eyes, skin and nervous system. Retinal capillary angioma is a common ocular association of this congenital phakomatosis that may result in blinding sequelae, if not managed appropriately. We present a case of retinal angioma associated with von Hippel-Lindau disease and discuss the ocular and systemic signs, diagnosis and management. The optometrist is of particular importance in screening for this disorder, as it is often first detected in a routine eye examination.

Adult↗
PubMedDate not supplied

Retinoblastoma in the eye of a llama (Llama glama).

ANIMAL STUDIED: A 6-year-old, pregnant female llama experienced a 6-month history of epiphora, buphthalmos, and acute loss of vision in the left eye. The condition was unresponsive to topical antimicrobial and anti-inflammatory therapy and progressed to corneal rupture. PROCEDURES: Transpalpebral enucleation was performed and an intraorbital silicone prosthesis was implanted. The eye was fixed in formalin and processed according to routine paraffin technique. Sections of a mass were immunohistochemically prepared routinely and stained for glial fibrillary acidic protein (GFAP), S-antigen, and rhodopsin. RESULTS: Gross, histopathologic, and immunohistochemical analysis revealed a retinal tumor consistent with a retinoblastoma. The neoplastic tissue formed Flexner-Wintersteiner and Homer-Wright rosettes, originated from the retina, and demonstrated photoreceptor differentiation with S-antigen and rhodopsin expression. Neoplastic cells were negative for GFAP. Four years after enucleation, the llama showed no signs of recurrent neoplasia. CONCLUSIONS: This report describes the diagnosis and successful treatment of the first known retinoblastoma in a llama.

Animals↗