Retinal Tumors

Retinal Tumors: Overview - Eye Spy Tumors

• Intraocular neoplasms from retina, its vasculature, or retinal pigment epithelium (RPE).
• Classified by:
  • Origin: Primary (arising within eye) vs. Secondary (metastatic).
  • Behavior: Benign vs. Malignant.
  • Age: Pediatric (e.g., Retinoblastoma) vs. Adult (e.g., Choroidal Melanoma, Metastasis).
• Key symptoms include leukocoria ("white pupil"), strabismus, ↓ vision, floaters, or may be asymptomatic.

⭐ Metastases are the most common intraocular tumors in adults, while retinoblastoma is the most common primary intraocular malignancy in children.

Retinoblastoma - Glow Worm's Peril

• Most common childhood intraocular malignancy; from primitive retinal cells.
• Genetics: RB1 gene mutation (Chr 13q14). 📌 Rare But 1mportant.
  • ~60% non-hereditary (unilateral); ~40% hereditary (often bilateral).
• Signs:
  • Leukocoria ("cat's eye reflex") - most common.
  • Strabismus - second most common.
• Diagnosis:
  • Fundoscopy: White mass, vitreous seeds.
  • Ultrasound (B-scan): Calcification (key).
  • CT/MRI: Extent, calcification, pinealoblastoma (trilateral RB).

  ⭐ Characteristic 'chalky white' calcification on CT scan is virtually diagnostic for retinoblastoma.

• Staging: ICRB (International Classification of Retinoblastoma - Groups A-E).
• Treatment (goal: life, eye, vision):
  • Small (Group A/B, <4DD, <2.5mm thick): Laser photocoagulation, cryotherapy.
  • Larger: Chemoreduction (e.g., VEC) + focal; Intra-arterial chemo (IAC); Intravitreal chemo (for seeds).
  • Advanced (Group E)/Failed therapy: Enucleation. Radiotherapy (plaque/EBRT) limited use.
• Prognosis: Good if early. Risk of secondary cancers (e.g., osteosarcoma).

Uveal Melanoma - Shade in the Back

• Most common primary adult intraocular malignancy; from uveal melanocytes (choroid > ciliary > iris).
• Risk Factors: Ocular melanocytosis, fair skin, pre-existing nevus, BAP1 mutation.
  • 📌 Nevus→Melanoma (TFSOM): Thickness >2mm, Fluid (subretinal), Symptoms, Orange pigment, Margin <3mm to disc.
• Clinical: Often asymptomatic; blurred vision, floaters, visual field loss.
• Diagnosis:
  • Ophthalmoscopy: Pigmented, dome/mushroom shape.
  • USG B-scan: Acoustic hollowness, choroidal excavation, collar-stud (Bruch's rupture), low-medium reflectivity.
• Prognosis (COMS):
  • Small: LBD ≤10mm, T ≤2.5mm
  • Medium: LBD 10.1-16mm, T 2.5-10mm
  • Large: LBD >16mm or T >10mm
  • Worse: Ciliary body, epithelioid, extrascleral extension, Monosomy 3/BAP1.
• Management: Observation, radiotherapy (plaque, proton), TTT, resection, enucleation.

⭐ The liver is the most common site of metastasis for uveal melanoma, and this significantly impacts prognosis.

Other Retinal Lesions - Noteworthy Eye Spots

• Capillary Hemangioma (Retinal Capillary Hemangioblastoma)

  • Often seen in Von Hippel-Lindau (VHL) disease (autosomal dominant).
  • Appearance: Reddish-orange, round vascular tumor. Dilated, tortuous feeder artery & draining vein.
  • Complications: Lipid exudation, serous retinal detachment (RD), neovascular glaucoma.
  • Tx: Laser photocoagulation, cryotherapy, anti-VEGF.

• Astrocytic Hamartoma

  • Associated with Tuberous Sclerosis (Bourneville's) & Neurofibromatosis.
  • Appearance:
    • Early: Flat, smooth, translucent/greyish-white.
    • Late: Elevated, opaque, calcified "mulberry" or "tapioca" lesion.
  • Usually benign & stationary; rarely grows or causes exudation.

• Congenital Hypertrophy of RPE (CHRPE)

  • Appearance: Flat, sharply demarcated, pigmented (dark grey/black) lesion. Lacunae (depigmented spots) may appear.
  • Types:
    • Solitary: Unilateral, benign.
    • Grouped ("Bear tracks"): Multiple, smaller, often unilateral.
    • Atypical: Bilateral, multiple, pisciform (fish-tail shaped) - also linked to FAP.

  ⭐ Multiple 'bear tracks' CHRPE lesions are strongly associated with Familial Adenomatous Polyposis (Gardner Syndrome). oka

High‑Yield Points - ⚡ Biggest Takeaways

• Retinoblastoma (Rb): Most common childhood intraocular malignancy; RB1 gene, leukocoria, Flexner-Wintersteiner rosettes.
• Choroidal Melanoma: Most common primary adult intraocular malignancy; characteristic mushroom shape on B-scan.
• Metastatic Tumors: Most common overall adult intraocular tumor; typically from lung or breast to choroid.
• Retinal Capillary Hemangioma: Strong association with Von Hippel-Lindau (VHL) disease; prominent feeder/draining vessels.
• Astrocytic Hamartoma: Benign glial tumor often seen in Tuberous Sclerosis; classic "mulberry" lesion.