Retinoblastoma PDF 2024

Retinoblastoma Management principles Factors that help determine treatment To get rid of the cancer and save life Tumor extension To save the eye if possible Laterality To preserve as much vision as possible...

Retinoblastoma Management principles Factors that help determine treatment To get rid of the cancer and save life Tumor extension To save the eye if possible Laterality To preserve as much vision as possible Potential for preserving vision To limit the risk of other cancers later in life Dr. Yang, 2024 30 Retinoblastoma Management – Enucleation à definitive treatment for intraocular retinoblastoma particularly in pts who present with unilateral cases – Chemotherapy: Intravenous, intra-arterial, intravitreal – Local treatment: Cryotherapy, laser therapy – Radiation therapy: Episcleral plaque brachytherapy, External beam radiation Dr. Yang, 2024 -radiation therapy is avoided if possible 31 Retinoblastoma Intraocular Retinoblastoma Treatment Enucleation Conservative Approach § Chemoreduction Unilateral § Followed by chemotherapy § Local treatments: cryotherapy, thermotherapy, plaque radiation therapy § For large tumors § Chemoreduction § Followed by risk-adapted § Local treatments: cryotherapy, thermotherapy, plaque Bilateral chemotherapy when the eye/vison radiation therapy cannot be saved § External beam radiation therapy Dr. Yang, 2024 32 Retinoblastoma Extraocular Retinoblastoma Treatment § Chemotherapy Orbital and local § Radiation therapy § Systemic chemotherapy and CNS-directed therapy C N S disease § Systemic chemotherapy followed by myeloablative chemotherapy and stem cell rescue § Systemic chemotherapy followed by surgery and myeloablative chemotherapy with stem cell rescue Trilateral § Systemic chemotherapy followed by surgery and radiation therapy § Systemic chemotherapy followed by myeloablative chemotherapy with stem cell rescue and Extracranial metastatic radiation therapy Dr. Yang, 2024 33 Retinoblastoma Useful vision using local control or Survival rates chemotherapy Up to 70-85% if intraocular 91% of Group A eyes Up to 60% if optic nerve involved 84% of Group B eyes Poor prognosis if C N S involved 60% of Group C eyes 30% of Group D eyes Dr. Yang, 2024 -prognosis of untreated retinoblastoma is always bad bc it’s a malignant tumor and survival rate is about 7—85% if enucleated before it grows extraocularly 34 Retinoblastoma Differential diagnosis – Dense cataract – Persistent hyperplastic primary vitreous – Coats’ disease – Ocular toxocariasis – Retinopathy of prematurity – Retinal astrocytoma Dr. Yang, 2024 35 Retinoblastoma DDx Cataract in children – Congenital or acquired – Bilateral – Unilateral Possible genetic mutations Idiopathic Metabolic disorders Local dysgenesis Syndromes Trauma Intrauterine infections Idiopathic Dr. Yang, 2024 36 Retinoblastoma DDx Persistent hyperplastic primary vitreous – Congenital developmental anomaly – Failure of the embryological, primary vitreous and hyaloid vasculature to regress – A gray-white retrolental membrane – Unilateral – Microphthalmia, cataract, RD Dr. Yang, 2024 37 Retinoblastoma DDx Coats’ disease – Idiopathic leaky aneurysmal, telangiectatic retinal vessels – Various degrees of exudation (more yellowish) – Unilateral, progressive – Younger than 8 years old – Male >> female Dr. Yang, 2024 -fundus appears more yellow than white 38 Retinoblastoma DDx Ocular toxocariasis – Parasite infection (Toxocara canis/cati) – Unilateral > bilateral – White, raised granuloma in the posterior pole – Pars planitis, vitritis, uveitis – Endophthalmitis – Red, painful eye Dr. Yang, 2024 39 Retinoblastoma DDx Retinopathy of prematurity – Late stage – Retrolental fibroplasia – With or without RD Dr. Yang, 2024 40 Retinal /O N H Astrocytoma (Astrocytic H amartoma) Clinical features – Rare, benign, glial tumor – Association with tuberous sclerosis, neurofibromatosis – Elevated gray-yellow-white retinal mass – Translucent to opaque – Located in the inner retina or the optic disc, obscuring the retinal vessels – Rare slow progressive enlargement – Rare complications – Mostly asymptomatic but may present with leukocoria Dr. Yang, 2024 -thought to be congenital but may not become clinically apparent until later in life 41 Retinal /O N H Astrocytoma Dr. Yang, 2024 -mass in the inner retina or RNFL -it obscures the retinal blood vessels -pts are mostly asymptomatic and is usually detected during routine fundus exams 42 Retinal /O N H Astrocytoma Dr. Yang, 2024 -when subjected to fundus autofluorescence it reveals hyperfluorescence due to its calcification -D: oct shows cystic cavities within the tumor -B: ultrasound shows highly reflective tumor with posterior orbital shadowing -C: fluorescence angiography highlights intrinsic tumor vasculature, mild leakage, and intense staining 43 Retinal /O N H Astrocytoma Pathology – Benign tumor of astrocytes – No significant calcium in early lesions – More calcification with time Differential diagnosis – Retinoblastoma – Amelanotic choroidal melanoma Dr. Yang, 2024 -mostly restricted to RNFL of the retina 44 Retinal /O N H Astrocytoma Complications are uncommon – Retinal traction – CNVM – C ME – Exudative RD – Vitreous hemorrhage – Neovascular glaucoma – Amblyopia Dr. Yang, 2024 45 Retinal /O N H Astrocytoma Management – Observation – Photodynamic therapy – Anti-VEGF injection – Laser photocoagulation Dr. Yang, 2024 46 Retinal Capillary Hemangioma (Hemangioblastoma) Clinical features – Benign congenital vascular tumor of retina or optic disc – Frequent association with von Hippel-Lindau syndrome – Bilateral or unilateral – Ages 25-30 years – Small well-defined orange-red nodule(s) – Dilated feeder and drainer retinal vessels – Intraretinal, subretinal exudation, RD – Slow progression but spontaneous regression possible Dr. Yang, 2024 -its not malignant but can be sight-threatening -commonly detected in young adults -can occur as a solitary tumor or multifocal tumor -most people who have a multifocal bilateral retinal capillary hemangioma have von hippel-lindau syndrome and its presentation is more aggressive -von hippel-lindau syndrome is another type of phacomatosis à hamartomata's lesion 47 Retinal Capillary Hemangioma Dr. Yang, 2024 -pale orange mass formed by small vessels -can do FA to tell which one is artery or vein -many pts are asymptomatic depending on the location -right pic shows the exudative form so its showing lipid deposition surrounding the tumor and the macula area so this pt would be more symptomatic -f the lesions enlarge over time and left untreated the risk of retinal detachment increases 48 Retinal Capillary Hemangioma Pathology – Proliferation of endothelial and glial cells – Intraretinal mass of small blood vessels Dr. Yang, 2024 49 Retinal Capillary Hemangioma Fluorescein angiography Dr. Yang, 2024 -there is a small spherical lesion and a prominent dilated artery 50 Retinal Capillary Hemangioma Complications – Exudation: macular edema, RD – Glial proliferation can cause Vitreal/retinal traction, RD – Vitreal/retinal hemorrhages à occurs from rupture and bleeding of the tumor – Neovascular glaucoma à leakage of VEGF to the anterior chamber Dr. Yang, 2024 51 Retinal Capillary Hemangioma Management – Observation – Laser photocoagulation – Cryotherapy – Anti-VEGF injection – Photodynamic therapy, radiotherapy – Surgery (for secondary complications) Dr. Yang, 2024 52 Retinal Capillary Hemangioma Differential diagnosis – Coats’ disease – Retinal macroaneurysm – Racemose hemangioma – Retinal cavernous hemangioma Dr. Yang, 2024 53 Retinal Cavernous Hemangioma Clinical features – Benign, congenital, non-progressive vascular tumor – Sometimes associated with CNS/cutaneous hemangiomas – Usually, unilateral – Female > male, in the 2nd~3rd decade – Purple-red saccular angiomas located in the retina or at the optic disc – Located along the course of normal retinal vein – Vitreous hemorrhage is the most frequent complication Dr. Yang, 2024 -rare congenital vascular hamartoma -inherited in AD fashion that is associated with the phacomatosis 54 Retinal Cavernous Hemangioma Dr. Yang, 2024 -appears dark/purplish intra-retinal aneurysms , cluster of grapes -pt presents with decrease in vision due to macular involvement or vitreous hemorrhage -no feeding vessels like how we saw in capillary hemangioma -sometimes located at the ONH 55 Retinal Cavernous Hemangioma Pathology – Intraretinal vascular mass – Composed of large dilated congested retinal veins Dr. Yang, 2024 56  Retinal Cavernous Hemangioma Fluorescein angiography – Plasma-erythrocyte separation phenomenon Dr. Yang, 2024 -the top portion of each ”grape” in the cluster the top portion of the grape would hyper fluoresce and the bottom would hyper fluoresce and is due to the sluggish blood flow within the saccules -retinal blood cells gravitate to the bottom of the portion while the acellular plasma remains on the top -these typically don’t leak so there’s no sub retinal fluid or exudation 57 Retinal Cavernous Hemangioma Differential diagnosis – Coats’ disease – Retinal capillary hemangioma Management – Observation – Vitrectomy for persistent or recurrent vitreous hemorrhage – Membrane peeling if severe traction and visual loss Dr. Yang, 2024 -coats disease is a top differential for most of these conditions so review it! -localized tumor doesn’t affect vision unless the macula is involved 58 Congenital Hypertrophy of the R P E (CHRPE) Clinical Features – Well circumscribed flat black lesion at level of RPE – May have depigmented halo and lacunae – Slow progressive changes – Rare association with familiar adenomatous polyposis in Gardner’s syndrome Dr. Yang, 2024 -benign tumor 59