Intravitreal and intracameral chemotherapy¶
TL;DR — Intravitreal chemotherapy transformed treatment of refractory vitreous seeds, historically protected from systemic drug exposure. Safety depends on excluding tumour at the entry site, reducing reflux and sterilising the needle tract; this is a protocol, not merely an injection. Melphalan and topotecan can control seeds but retinal, lens, iris and optic toxicity are dose- and technique-relevant. Intracameral chemotherapy for aqueous/anterior-chamber seeds is much less mature and should remain confined to expert protocols.
Decision-relevant evidence¶
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The initial anti-reflux/needle-track series reported 135 injections in 30 eyes, no clinically detected extraocular spread over median 13.5 months, no tumour contamination at the histologically examined entry sites of the five enucleated eyes, and transient localised vitreous haemorrhage in 3 of 135 injections (Munier 2012, PMID 22368262).
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A 40-eye series using melphalan (20–30 µg) with topotecan (20 µg) as needed delivered 192 injections and reported continuing seed regression in all 40 eyes (100%) at median three-year follow-up and globe salvage in 35 (88%). Fewer than six planned melphalan injections were needed in 31 eyes (78%) because of rapid seed control. Side effects included retinal pigment epithelial mottling (n = 12), paraxial lens opacity not requiring surgery (n = 11), transient vitreous haemorrhage (n = 5), transient hypotony (n = 3), optic disc oedema (n = 1) and haemorrhagic retinal necrosis (n = 1), with no endophthalmitis, extraocular extension, metastasis or death (Shields 2016, PMID 26630319).
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A 27-eye series treating recurrent or refractory seeds with 108 injections reported complete regression in 78% (21/27), higher for focal (100%, 10/10) than diffuse seeds (65%, 11/17; p = 0.04) and similar for refractory (64%) and recurrent seeds (87%, p = 0.37). Sixteen eyes (59%) developed a side effect: retinal toxicity 48%, cataract 30%, pupillary synechiae 15%, iris atrophy 7% and retinal/optic atrophy 4% — toxicity that appeared even at the standard 20–30 µg dose (Yousef 2021, PMID 34322023).
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Seed morphology, not injection count, is the dominant determinant of response, which is why classification of seeds as dust, spheres or clouds is now standard in reporting: in a 33-eye comparative series, salvage correlated with seed type (r = 0.42, P = 0.015) and with new solid tumour growth (r = 0.35, P = 0.045) (Said 2018, PMID 29600179), and reviews identify group E disease, diffuse and recurrent seeds and anterior-chamber seeds as the categories with persistently poor prognosis (Sen 2026, PMID 40819690).
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Which drug to inject is unsettled and the two comparative series point in different directions on different endpoints. In 64 Asian Indian eyes, complete seed resolution was reported in 22 eyes (92%) with melphalan 25 µg versus 28 of 39 (72%) with topotecan 30 µg (P = 0.069) — the melphalan denominator is stated as 25 eyes elsewhere in the same abstract, so the reported percentage and the arm size are not fully consistent while globe salvage was 77% with topotecan versus 60% with melphalan (P = 0.148); posterior-segment complications were significantly more frequent with melphalan (P < 0.05). Follow-up was unequal (44 versus 19 months), which biases the salvage comparison (Agarwal 2025, PMID 39566884). A separate 34-patient Chinese cohort compared topotecan alone against topotecan plus melphalan for refractory or recurrent seeds after intravenous or intra-arterial treatment (Lin 2025, PMID 41218901).
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Intravitreal melphalan changes the achievable outcome in group D eyes with seeds resistant to six cycles of VEC plus consolidation: in 15 such eyes given 77 injections (mean five per eye, 20–30 µg), complete seed control was reached in 13 (87%) and globe salvage in 11 (73%), with 6 of 8 eyes with extramacular tumour retaining visual acuity of 0.4 logMAR or better (Amin 2020, PMID 33409006).
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Results are not uniform across centres. A seven-patient European implementation series using a mean of 3.3 cycles at 30 µg reported successful treatment of vitreous seeding in three of seven eyes (43%), with cryotherapy-point scars in all patients and "salt and pepper" retinopathy in two (Solana-Altabella 2020, PMID 32063104).
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Carboplatin is not an established intravitreal alternative. A phase I trial of intravitreal carboplatin at 0.3 mg enrolled only four patients; all achieved complete seed regression after 5, 2, 2 and 1 injections, but two later recurred at 3 and 25 months and required enucleation, and one developed acute vision loss with an extinguished electroretinogram 72 hours after the second injection — a serious adverse event that forced dose recalculation and early closure (King 2023, PMID 36372348; NCT02792036).
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The anterior chamber is a pharmacological sanctuary that systemic, intra-arterial and intravitreal routes do not reach at tumoricidal concentration; intracameral melphalan was developed for exactly this compartment. In the pilot case, aqueous sterilisation followed seven anterior-chamber injections, relapse at 3.5 months was controlled by six further posterior-chamber-directed injections, corneal endothelial cell density stayed stable, and heterochromia and cataract requiring surgery developed, with the patient tumour-free and 20/20 in both eyes at five years (Munier 2017, PMID 28868287). This is one patient, and it is the origin of the technique rather than evidence of its general safety.
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Because intravitreal chemotherapy entered practice alongside intra-arterial chemotherapy, comparisons between routes are confounded by era: many intravenous-chemotherapy failures in the historical comparison groups never had access to intravitreal salvage, so published contrasts probably overstate the arterial route's advantage in the absence of randomized data (Raval 2020, PMID 32925294).
Clinical and research frame¶
| Domain | Operational meaning | Evidence boundary |
|---|---|---|
| Vitreous seeds | Intravitreal melphalan/topotecan | Anti-reflux plus cryotherapy entry protocol |
| Subretinal seeds | Systemic/IAC/focal combinations | Intravitreal route does not directly solve all disease |
| Aqueous seeds | Intracameral/bicameral experimental protocols | Very small evidence base |
| Toxicity | Retina, lens, iris, optic nerve | Report dose per injection and cumulative exposure |
| Safety endpoint | Extraocular spread/metastasis | Requires long follow-up and denominator |
Interpretation rules¶
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Keep the child-level endpoints of survival and metastasis separate from the eye-level endpoint of globe salvage.
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Report initial stage, laterality, heritability, prior treatment and follow-up; otherwise comparisons are not transportable.
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A retrospective eye series estimates performance in selected eyes; it does not establish superiority over another route.
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Absence of metastasis in a small series is a safety observation, not proof that risk is zero.
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Treatment-era effects matter because external-beam radiotherapy, systemic chemotherapy, IAC and intravitreal therapy create different late-risk profiles.
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Income stratum and access are effect modifiers, not background descriptors (Global Retinoblastoma Study Group 2022, PMID 35839812).
Evidence register¶
The following records were each retrieved live from PubMed E-utilities on 2026-09-01 and re-fetched live during the independent audit on the same date. Every identifier below resolved, and its author, year, journal and title matched the citation as written. Inclusion records the evidence base for this page; a register entry asserts that the record exists and is on topic, not that it supports a specific effect estimate.
| PMID | Year | Study or review | Role in this page |
|---|---|---|---|
| 22368262 | 2012 | Profiling safety of intravitreal injections for retinoblastoma using an anti-reflux procedure and sterilisation of the needle track. | Topic-resolved source (Munier 2012, PMID 22368262) |
| 26630319 | 2016 | INTRAVITREOUS CHEMOTHERAPY FOR ACTIVE VITREOUS SEEDING FROM RETINOBLASTOMA: Outcomes After 192 Consecutive Injections. The 2015 Howard Naquin Lecture. | Topic-resolved source (Shields 2016, PMID 26630319) |
| 34322023 | 2021 | Safety and Efficacy of Intravitreal Chemotherapy (Melphalan) to Treat Vitreous Seeds in Retinoblastoma. | Topic-resolved source (Yousef 2021, PMID 34322023) |
| 28868287 | 2017 | Intracameral Chemotherapy (Melphalan) for Aqueous Seeding in Retinoblastoma: Bicameral Injection Technique and Related Toxicity in a Pilot Case Study. | Topic-resolved source (Munier 2017, PMID 28868287) |
| 35839812 | 2022 | The Global Retinoblastoma Outcome Study: a prospective, cluster-based analysis of 4064 patients from 149 countries. | Topic-resolved source (Global 2022, PMID 35839812) |
| 32063104 | 2020 | Intravitreal melphalan therapy for vitreous seeds in retinoblastoma: Implementation and outcomes of a new chemotherapy protocol. | Topic-resolved source (Solana-Altabella 2020, PMID 32063104) |
| 39566884 | 2025 | Intravitreal Melphalan versus Topotecan for Vitreous Seeds in Retinoblastoma: A Comparative Study of 64 Asian Indian Eyes. | Topic-resolved source (Agarwal 2025, PMID 39566884) |
| 33409006 | 2020 | Outcomes of Group D Retinoblastoma With Resistant Vitreous Seeds After Integration of Intravitreal Chemotherapy to the Treatment Protocol. | Topic-resolved source (Amin 2020, PMID 33409006) |
| 29600179 | 2018 | Safety and efficacy of posterior sub-Tenon's carboplatin injection versus intravitreal melphalan therapy in the management of retinoblastoma with secondary vitreous seeds. | Topic-resolved source (Said 2018, PMID 29600179) |
| 40993901 | 2025 | Intravitreal Chemotherapy in Retinoblastoma: Current Trends and Future Directions. | Topic-resolved source (Agarwal 2025, PMID 40993901) |
| 36372348 | 2023 | Intravitreal Carboplatin as Salvage Treatment for Progressive Vitreous Disease in Retinoblastoma: A Phase I Clinical Trial. | Topic-resolved source (King 2023, PMID 36372348) |
| 41218901 | 2025 | [The efficacy of topotecan versus topotecan combined with melphalan in the treatment of vitreous seeds in retinoblastoma]. | Topic-resolved source (Lin 2025, PMID 41218901) |
| 28195618 | 2017 | Preclinical Acute Ocular Safety Study of Combined Intravitreal Carboplatin and Etoposide Phosphate for Retinoblastoma. | Topic-resolved source (Mohney 2017, PMID 28195618) |
| 34958963 | 2022 | Aqueous Seeding in Retinoblastoma: Classification and Clinicopathologic Correlation. | Topic-resolved source (Jakati 2022, PMID 34958963) |
| 36326029 | 2022 | A typical anterior retinoblastoma: diagnosis by aqueous humor cell-free DNA analysis. | Topic-resolved source (Kletke 2022, PMID 36326029) |
| 40819690 | 2026 | Intraocular seeds in retinoblastoma: A review of classification, management, and outcomes. | Topic-resolved source (Sen 2026, PMID 40819690) |
| 32434859 | 2020 | Chromosome 6p Amplification in Aqueous Humor Cell-Free DNA Is a Prognostic Biomarker for Retinoblastoma Ocular Survival. | Topic-resolved source (Xu 2020, PMID 32434859) |
| 36130950 | 2022 | Characterizing DNA methylation signatures of retinoblastoma using aqueous humor liquid biopsy. | Topic-resolved source (Li 2022, PMID 36130950) |
| 35604935 | 2022 | Liquid biopsy in Retinoblastoma: A review. | Topic-resolved source (Ghose 2022, PMID 35604935) |
| 39016001 | 2024 | Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma. | Topic-resolved source (Sirivolu 2024, PMID 39016001) |
| 38454873 | 2024 | Tumor DNA sampling from aqueous humor in retinoblastoma - A report from South Asia. | Topic-resolved source (Meel 2024, PMID 38454873) |
| 39519212 | 2024 | Phenotypic Biomarkers of Aqueous Extracellular Vesicles from Retinoblastoma Eyes. | Topic-resolved source (Amacker 2024, PMID 39519212) |
| 36148636 | 2023 | Follow-up of intraocular retinoblastoma through the quantitative analysis of conserved nuclear DNA sequences in aqueous humor from patients. | Topic-resolved source (Cuadrado-Vilanova 2023, PMID 36148636) |
| 35577019 | 2022 | Aqueous humor as a surrogate biomarker for retinoblastoma tumor tissue. | Topic-resolved source (Raval 2022, PMID 35577019) |
| 29049475 | 2017 | Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma. | Topic-resolved source (Berry 2017, PMID 29049475) |
| 34656762 | 2021 | Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers. | Topic-resolved source (Le 2021, PMID 34656762) |
| 37410475 | 2023 | CD63/81 Small Extracellular Vesicles in the Aqueous Humor are Retinoblastoma Associated. | Topic-resolved source (Pike 2023, PMID 37410475) |
| 34283049 | 2021 | Comprehensive Somatic Copy Number Analysis Using Aqueous Humor Liquid Biopsy for Retinoblastoma. | Topic-resolved source (Kim 2021, PMID 34283049) |
| 38040321 | 2024 | Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma: Implications for Diagnosis, Prognosis, and Therapeutic Options: Five Years of Progress. | Topic-resolved source (Berry 2024, PMID 38040321) |
| 40332023 | 2025 | Retinoblastoma: Molecular Evaluation of Tumor Samples, Aqueous Humor, and Peripheral Blood Using a Next-Generation Sequence Panel. | Topic-resolved source (Mendes 2025, PMID 40332023) |
| 39862293 | 2025 | MicroRNAs' Significance in Retinoblastoma Diagnosis and Treatment: The Little Heroes. | Topic-resolved source (Zamani 2025, PMID 39862293) |
| 41521223 | 2026 | The utility of aqueous humor liquid biopsy in retinoblastoma genetic analysis: a systematic review of concordance and influencing factors. | Topic-resolved source (Darajati 2026, PMID 41521223) |
| 32799607 | 2020 | Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes. | Topic-resolved source (Xu 2020, PMID 32799607) |
| 31683923 | 2019 | The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene. | Topic-resolved source (Berry 2019, PMID 31683923) |
| 30061186 | 2018 | Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma. | Topic-resolved source (Berry 2018, PMID 30061186) |
| 33805776 | 2021 | Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy. | Topic-resolved source (Xu 2021, PMID 33805776) |
| 41542805 | 2026 | A bird's eye view on potential molecular prognostic markers in retinoblastoma: insights for precision oncology. | Topic-resolved source (Darajati 2026, PMID 41542805) |
| 33717678 | 2021 | The methylation level of TFAP2A is a potential diagnostic biomarker for retinoblastoma: an analytical validation study. | Topic-resolved source (Zeng 2021, PMID 33717678) |
| 38804799 | 2024 | Retinoblastoma - A comprehensive review, update and recent advances. | Topic-resolved source (Nag 2024, PMID 38804799) |
| 27189421 | 2015 | Retinoblastoma. | Topic-resolved source (Dimaras 2015, PMID 27189421) |
| 32925294 | 2020 | Chemotherapy for Retinoblastoma: Impact of Intravitreal Chemotherapy. | Added by audit 2026-09-01 (Raval 2020, PMID 32925294) |
Source chronology¶
| Era marker | PMID | What the record contributes |
|---|---|---|
| 2012 | 22368262 | Profiling safety of intravitreal injections for retinoblastoma using an anti-reflux procedure and sterilisation of the needle track. (Munier 2012, PMID 22368262) |
| 2015 | 27189421 | Retinoblastoma. (Dimaras 2015, PMID 27189421) |
| 2016 | 26630319 | INTRAVITREOUS CHEMOTHERAPY FOR ACTIVE VITREOUS SEEDING FROM RETINOBLASTOMA: Outcomes After 192 Consecutive Injections. The 2015 Howard Naquin Lecture. (Shields 2016, PMID 26630319) |
| 2017 | 28195618 | Preclinical Acute Ocular Safety Study of Combined Intravitreal Carboplatin and Etoposide Phosphate for Retinoblastoma. (Mohney 2017, PMID 28195618) |
| 2017 | 28868287 | Intracameral Chemotherapy (Melphalan) for Aqueous Seeding in Retinoblastoma: Bicameral Injection Technique and Related Toxicity in a Pilot Case Study. (Munier 2017, PMID 28868287) |
| 2017 | 29049475 | Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma. (Berry 2017, PMID 29049475) |
| 2018 | 29600179 | Safety and efficacy of posterior sub-Tenon's carboplatin injection versus intravitreal melphalan therapy in the management of retinoblastoma with secondary vitreous seeds. (Said 2018, PMID 29600179) |
| 2018 | 30061186 | Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma. (Berry 2018, PMID 30061186) |
| 2019 | 31683923 | The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene. (Berry 2019, PMID 31683923) |
| 2020 | 32063104 | Intravitreal melphalan therapy for vitreous seeds in retinoblastoma: Implementation and outcomes of a new chemotherapy protocol. (Solana-Altabella 2020, PMID 32063104) |
| 2020 | 32434859 | Chromosome 6p Amplification in Aqueous Humor Cell-Free DNA Is a Prognostic Biomarker for Retinoblastoma Ocular Survival. (Xu 2020, PMID 32434859) |
| 2020 | 32799607 | Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes. (Xu 2020, PMID 32799607) |
| 2020 | 33409006 | Outcomes of Group D Retinoblastoma With Resistant Vitreous Seeds After Integration of Intravitreal Chemotherapy to the Treatment Protocol. (Amin 2020, PMID 33409006) |
| 2021 | 33717678 | The methylation level of TFAP2A is a potential diagnostic biomarker for retinoblastoma: an analytical validation study. (Zeng 2021, PMID 33717678) |
| 2021 | 33805776 | Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy. (Xu 2021, PMID 33805776) |
Evidence limitations¶
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Most intraocular treatment evidence is observational, single-centre and reported per eye; bilateral eyes within one child are statistically correlated.
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Classification and treatment changed over time, producing stage migration and confounding by indication.
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Rare metastatic and late-effect outcomes require multinational cohorts and decades of follow-up.
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Verification is abstract-level. Every claim on this page was checked against the abstract of the record it cites during the independent audit on 2026-09-01; where an abstract could not support a claim, the claim was removed or restated as an explicit limit. Claims requiring full text beyond the abstract are not made here.
Open questions¶
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What dose-response curve balances seed control and retinal function? The current evidence register defines the design space but does not close the question.
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Which aqueous-seed phenotypes can be treated without compromising survival? The current evidence register defines the design space but does not close the question.
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Can standardized seed morphology predict injection number and recurrence? The current evidence register defines the design space but does not close the question.
Related pages¶
- intra arterial chemotherapy — connected evidence and decision boundary.
- focal therapy and brachytherapy — connected evidence and decision boundary.
- red flags and safety concerns — connected evidence and decision boundary.
References¶
- Munier FL, et al. Profiling safety of intravitreal injections for retinoblastoma using an anti-reflux procedure and sterilisation of the needle track. The British journal of ophthalmology. 2012;96:1084-7. PMID 22368262
- Shields CL, et al. INTRAVITREOUS CHEMOTHERAPY FOR ACTIVE VITREOUS SEEDING FROM RETINOBLASTOMA: Outcomes After 192 Consecutive Injections. The 2015 Howard Naquin Lecture. Retina (Philadelphia, Pa.). 2016;36:1184-90. PMID 26630319
- Yousef YA, et al. Safety and Efficacy of Intravitreal Chemotherapy (Melphalan) to Treat Vitreous Seeds in Retinoblastoma. Frontiers in pharmacology. 2021;12:696787. PMID 34322023
- Munier FL, et al. Intracameral Chemotherapy (Melphalan) for Aqueous Seeding in Retinoblastoma: Bicameral Injection Technique and Related Toxicity in a Pilot Case Study. Ocular oncology and pathology. 2017;3:149-155. PMID 28868287
- Global Retinoblastoma Study Group. The Global Retinoblastoma Outcome Study: a prospective, cluster-based analysis of 4064 patients from 149 countries. The Lancet. Global health. 2022;10:e1128-e1140. PMID 35839812
- Solana-Altabella A, et al. Intravitreal melphalan therapy for vitreous seeds in retinoblastoma: Implementation and outcomes of a new chemotherapy protocol. Journal of oncology pharmacy practice : official publication of the International Society of Oncology Pharmacy Practitioners. 2020;26:1829-1835. PMID 32063104
- Agarwal A, et al. Intravitreal Melphalan versus Topotecan for Vitreous Seeds in Retinoblastoma: A Comparative Study of 64 Asian Indian Eyes. Ophthalmology. Retina. 2025;9:589-597. PMID 39566884
- Amin S, et al. Outcomes of Group D Retinoblastoma With Resistant Vitreous Seeds After Integration of Intravitreal Chemotherapy to the Treatment Protocol. Cureus. 2020;12:e11757. PMID 33409006
- Said AMA, et al. Safety and efficacy of posterior sub-Tenon's carboplatin injection versus intravitreal melphalan therapy in the management of retinoblastoma with secondary vitreous seeds. International journal of ophthalmology. 2018;11:445-455. PMID 29600179
- Agarwal A, et al. Intravitreal Chemotherapy in Retinoblastoma: Current Trends and Future Directions. International ophthalmology clinics. 2025;65:68-73. PMID 40993901
- King BA, et al. Intravitreal Carboplatin as Salvage Treatment for Progressive Vitreous Disease in Retinoblastoma: A Phase I Clinical Trial. Ophthalmology. Retina. 2023;7:354-359. PMID 36372348
- Lin XT, et al. [The efficacy of topotecan versus topotecan combined with melphalan in the treatment of vitreous seeds in retinoblastoma]. [Zhonghua yan ke za zhi] Chinese journal of ophthalmology. 2025;61:871-878. PMID 41218901
- Mohney BG, et al. Preclinical Acute Ocular Safety Study of Combined Intravitreal Carboplatin and Etoposide Phosphate for Retinoblastoma. Ophthalmic surgery, lasers & imaging retina. 2017;48:151-159. PMID 28195618
- Jakati S, et al. Aqueous Seeding in Retinoblastoma: Classification and Clinicopathologic Correlation. Ophthalmology. Retina. 2022;6:421-428. PMID 34958963
- Kletke SN, et al. A typical anterior retinoblastoma: diagnosis by aqueous humor cell-free DNA analysis. Ophthalmic genetics. 2022;43:862-865. PMID 36326029
- Sen M, et al. Intraocular seeds in retinoblastoma: A review of classification, management, and outcomes. Survey of ophthalmology. 2026;71:361-381. PMID 40819690
- Xu L, et al. Chromosome 6p Amplification in Aqueous Humor Cell-Free DNA Is a Prognostic Biomarker for Retinoblastoma Ocular Survival. Molecular cancer research : MCR. 2020;18:1166-1175. PMID 32434859
- Li HT, et al. Characterizing DNA methylation signatures of retinoblastoma using aqueous humor liquid biopsy. Nature communications. 2022;13:5523. PMID 36130950
- Ghose N, et al. Liquid biopsy in Retinoblastoma: A review. Seminars in ophthalmology. 2022;37:813-819. PMID 35604935
- Sirivolu S, et al. Single-cell somatic copy number alteration profiling of vitreous humor seeds in retinoblastoma. Ophthalmic genetics. 2024;45:646-649. PMID 39016001
- Meel R, et al. Tumor DNA sampling from aqueous humor in retinoblastoma - A report from South Asia. Indian journal of ophthalmology. 2024;72:1012-1016. PMID 38454873
- Amacker A, et al. Phenotypic Biomarkers of Aqueous Extracellular Vesicles from Retinoblastoma Eyes. International journal of molecular sciences. 2024;25. PMID 39519212
- Cuadrado-Vilanova M, et al. Follow-up of intraocular retinoblastoma through the quantitative analysis of conserved nuclear DNA sequences in aqueous humor from patients. The journal of pathology. Clinical research. 2023;9:32-43. PMID 36148636
- Raval V, et al. Aqueous humor as a surrogate biomarker for retinoblastoma tumor tissue. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus. 2022;26:137.e1-137.e5. PMID 35577019
- Berry JL, et al. Potential of Aqueous Humor as a Surrogate Tumor Biopsy for Retinoblastoma. JAMA ophthalmology. 2017;135:1221-1230. PMID 29049475
- Le Gall J, et al. Highly Sensitive Detection Method of Retinoblastoma Genetic Predisposition and Biomarkers. The Journal of molecular diagnostics : JMD. 2021;23:1714-1721. PMID 34656762
- Pike S, et al. CD63/81 Small Extracellular Vesicles in the Aqueous Humor are Retinoblastoma Associated. Investigative ophthalmology & visual science. 2023;64:5. PMID 37410475
- Kim ME, et al. Comprehensive Somatic Copy Number Analysis Using Aqueous Humor Liquid Biopsy for Retinoblastoma. Cancers. 2021;13. PMID 34283049
- Berry JL, et al. Aqueous Humor Liquid Biopsy as a Companion Diagnostic for Retinoblastoma: Implications for Diagnosis, Prognosis, and Therapeutic Options: Five Years of Progress. American journal of ophthalmology. 2024;263:188-205. PMID 38040321
- Mendes TB, et al. Retinoblastoma: Molecular Evaluation of Tumor Samples, Aqueous Humor, and Peripheral Blood Using a Next-Generation Sequence Panel. International journal of molecular sciences. 2025;26. PMID 40332023
- Zamani Sani M, et al. MicroRNAs' Significance in Retinoblastoma Diagnosis and Treatment: The Little Heroes. Biochemical genetics. 2025;63:1176-1197. PMID 39862293
- Darajati IT, et al. The utility of aqueous humor liquid biopsy in retinoblastoma genetic analysis: a systematic review of concordance and influencing factors. Ophthalmic genetics. 2026;47:227-237. PMID 41521223
- Xu L, et al. Simultaneous identification of clinically relevant RB1 mutations and copy number alterations in aqueous humor of retinoblastoma eyes. Ophthalmic genetics. 2020;41:526-532. PMID 32799607
- Berry JL, et al. The RB1 Story: Characterization and Cloning of the First Tumor Suppressor Gene. Genes. 2019;10. PMID 31683923
- Berry JL, et al. Genomic cfDNA Analysis of Aqueous Humor in Retinoblastoma Predicts Eye Salvage: The Surrogate Tumor Biopsy for Retinoblastoma. Molecular cancer research : MCR. 2018;16:1701-1712. PMID 30061186
- Xu L, et al. Establishing the Clinical Utility of ctDNA Analysis for Diagnosis, Prognosis, and Treatment Monitoring of Retinoblastoma: The Aqueous Humor Liquid Biopsy. Cancers. 2021;13. PMID 33805776
- Darajati IT, et al. A bird's eye view on potential molecular prognostic markers in retinoblastoma: insights for precision oncology. Ophthalmic genetics. 2026;47:125-136. PMID 41542805
- Zeng Q, et al. The methylation level of TFAP2A is a potential diagnostic biomarker for retinoblastoma: an analytical validation study. PeerJ. 2021;9:e10830. PMID 33717678
- Nag A, et al. Retinoblastoma - A comprehensive review, update and recent advances. Indian journal of ophthalmology. 2024;72:778-788. PMID 38804799
- Dimaras H, et al. Retinoblastoma. Nature reviews. Disease primers. 2015;1:15021. PMID 27189421
- Raval V, et al. Chemotherapy for Retinoblastoma: Impact of Intravitreal Chemotherapy. Asia-Pacific journal of ophthalmology (Philadelphia, Pa.). 2020;10:200-202. PMID 32925294