Pathology
Eye Pathology
Eye pathology for MBBS and NEET-PG: retinoblastoma genetics, presentation and spread, with an overview of uveal melanoma, diabetic and hypertensive retinopathy, mapped to NMC code PA36.1.
MedNext Academy | 3 min read
Eye Pathology
Eye pathology for MBBS and NEET-PG: retinoblastoma genetics, presentation and spread, with an overview of uveal melanoma, diabetic and hypertensive retinopathy, mapped to NMC code PA36.1.
This chapter covers eye pathology. It focuses on retinoblastoma, the most common intraocular malignancy of childhood, and surveys other important ocular conditions including uveal melanoma, diabetic and hypertensive retinopathy, cataract and glaucoma.
High-yield: Eye Pathology
- Retinoblastoma is the most common primary intraocular malignancy of childhood.
- Retinoblastoma follows the two-hit hypothesis of loss of both copies of the RB1 tumour suppressor gene.
- The hereditary form of retinoblastoma is bilateral and multifocal and carries a risk of second cancers such as osteosarcoma.
- Leukocoria, a white pupillary reflex, is the classic presenting sign of retinoblastoma.
- Flexner-Wintersteiner rosettes are the characteristic histological feature of retinoblastoma.
- Retinoblastoma can spread along the optic nerve to the brain and metastasise to bone and marrow.
- Uveal (choroidal) melanoma is the most common primary intraocular malignancy in adults.
- Uveal melanoma tends to spread haematogenously to the liver.
- Diabetic retinopathy is a leading cause of blindness and features microaneurysms, haemorrhages and neovascularisation.
- Hypertensive retinopathy shows arteriolar narrowing, arteriovenous nipping, flame haemorrhages and papilloedema.
- Cataract is opacification of the lens and is a major cause of reversible blindness worldwide.
- Glaucoma is optic nerve damage usually associated with raised intraocular pressure and progressive visual field loss.
- Phthisis bulbi is a shrunken, non-functioning, disorganised eye that is the end stage of severe ocular damage.
- Age-related macular degeneration causes central visual loss and is a leading cause of blindness in the elderly.
Retinoblastoma essentials
- **Genetics:** Two-hit loss of the RB1 tumour suppressor gene; hereditary form bilateral.
- **Presentation:** Leukocoria, a white pupillary reflex, in early childhood.
- **Histology:** Flexner-Wintersteiner rosettes; areas of necrosis and calcification.
- **Spread:** Along the optic nerve to the brain; to bone and marrow.
NMC competencies in this chapter
- **PA36.1:** Pathogenesis, pathology and spread of retinoblastoma
Frequently Asked Questions
What is the most common intraocular malignancy of childhood?
Retinoblastoma, which presents with leukocoria and follows the two-hit loss of the RB1 tumour suppressor gene.
What is the classic histological feature of retinoblastoma?
Flexner-Wintersteiner rosettes, along with areas of necrosis and calcification.
How does hereditary retinoblastoma differ from the sporadic form?
The hereditary form is bilateral and multifocal and carries a raised risk of second cancers such as osteosarcoma, while the sporadic form is usually unilateral.
How does retinoblastoma spread?
It can extend along the optic nerve to the brain and metastasise to bone and bone marrow.
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