Retinoblastoma
Features
• Leukocoria (white pupillary reflex) — most common presenting sign
• Strabismus
• Decreased vision
• Red, painful eye (less common)
Epidemiology
• Most common intraocular malignancy in children
• Usually diagnosed before age 5
Genetics
• RB1 gene mutation (chromosome 13q14)
• Heritable form (40%): bilateral, increased risk of secondary tumours (e.g., osteosarcoma)
Management
• Urgent ophthalmology referral — vision- and life-threatening
• Enucleation, focal therapy (laser, cryotherapy), chemotherapy
Choroidal Melanoma
Features
• Most common primary intraocular tumour in adults
• Painless visual disturbances: blurred vision, visual field defects, photopsia
Risk Factors
• Light iris colour
• UV exposure
Signs
• Dome-shaped subretinal mass
• Orange pigment (lipofuscin)
• Serous retinal detachment possible
Management
• Plaque radiotherapy (brachytherapy)
• Enucleation for large tumours
Intraocular Metastases
Features
• Common in adults; usually bilateral
• Breast (women), lung (men)
• Visual loss, metamorphopsia (distorted vision), retinal detachment
Signs
• Creamy-white subretinal lesions
• Serous retinal detachment common
Eyelid Tumours
Basal Cell Carcinoma (BCC)
• Most common eyelid malignancy
• Pearly, rolled edges, central ulceration, telangiectasia
• Rarely metastasises, but local invasion can threaten the eye
Squamous Cell Carcinoma (SCC)
• Less common
• More aggressive than BCC
• Potential for regional lymph node metastasis
Sebaceous Carcinoma
• Rare but aggressive
• Often misdiagnosed as recurrent chalazion
• Commonly arises from meibomian glands
Extra Revision Pearls
• Leukocoria clue → retinoblastoma in children; also consider congenital cataract
• Bilateral intraocular metastases clue → breast cancer
• Orange lipofuscin clue → choroidal melanoma
• Rolled edge ulcer on eyelid clue → BCC
• Recurrent chalazion clue → sebaceous carcinoma
