## Hamartoma
- Non-neoplastic tumour of normal tissues for the site
- Typically involve blood vessels and melanocytes

## Haemangiomas: proliferation of blood vessels
- Capillary (small vessel) can affect the eyelids, orbit and choroid
 - Most common benign orbital tumour in children
 - Typically unencapsulated
 - Phases:
 - Growth phase before 6 months
 - Stable phase
 - Spontaneous involution phase: 1-8 years

- Cavernous haemangiomas (large vessels with septations) are the most common benign orbital tumour in adults
 - Typically encapsulated, low flow lesion
 - Average age of 40
 - Painless
 - Slow growth
 - Axial proptosis
 - Well-defined intraconal lesion on neuroimaging
 - Management:
 - Conservative: observation
 - Excisional biopsy: if unclear diagnosis, threat to vision

- Choroidal haemangiomas: congenital but asymptomatic until adulthood.
 - Circumscribed: no systemic associations. Grow in pregnancy. Poorly demarcated, elevated orange-red choroidal mass at posterior pole. Complicated by fibrous change of the RPE or serous detachment. High internal reflectivity on A-scan US and B-scan shows prominent internal reflections with excavation or orbital shadowing
 - Diffuse: associated with systemic abnormalities eg. Sturge Weber syndrome. Deep red thickened choroid especially at the posterior pole (‘tomato ketchup fundus’). Tortuous retinal vessels
 - Management: photocoagulation and PDT

 - Sturge-Weber syndrome (encephalo-trigeminal angiomatosis) causes extensive haemangiomas. It is a sporadic (not hereditary) mutation in the GNAQ gene
 - Choroidal haemangiomas
 - Vascular proliferation in the angle: glaucoma

## Other hamartomas
- Orbital lymphangioma: rare hamartoma of lymph vessels
 - Develops in early childhood
 - Superficial: transilluminating cystic lesion beneath eyelid skin
 - Deep:
 - Non-axial proptosis
 - Acute episodes of spontaneous bleeding (“chocolate cyst”)
 - Does not respond to Valsalva manoeuver, cp. Capillary haemangioma
 - Management
 - Bleomycin injection
 - Careful surgical excision

- Naevi: abnormal proliferation of melanocytes (neural crest derived cells)
 - Found in the conjunctiva, iris, choroid and retina
 - Can occasionally progress to melanoma
 - Benign features: clear margins, no overlying subretinal fluid, no orange pigment/lipofuscin

- Benign astrocytic hamartomas: astrocytes forming a matrix of calcification
 - Associated with tuberous sclerosis (fundal astrocytomas)
 - Stable round nodule projecting into vitreous
 - May simulate retinoblastoma
 - NB: these are one of two optic nerve lesions that exhibit true autofluorescence, the other being drusen.

### Summary Table: Haemangiomas
<table>
 <thead>
 <tr>
 <th></th>
 <th>Capillary</th>
 <th>Cavernous</th>
 </tr>
 </thead>
 <tbody>
 <tr>
 <td>Pathology</td>
 <td>Abnormal growth of blood vessels (vascular hamartoma)Low-flow</td>
 <td>Encapsulated tumour of large endothelial-lined channelsLow-flow</td>
 </tr>
 <tr>
 <td>Patient group</td>
 <td>Young children (most common benign orbital tumour in children)F&gt;M</td>
 <td>Young adults (most common benign orbital tumour in adults)F&gt;M</td>
 </tr>
 <tr>
 <td>Natural course</td>
 <td>Spontaneous regression around age 5-7</td>
 <td>Progressive slow growth</td>
 </tr>
 <tr>
 <td>Associations</td>
 <td>Dermal haemangiomas, Kasabach-Merritt syndrome, Maffucci syndrome</td>
 <td>Sturge-Weber syndrome (with choroidal haemangiomas)</td>
 </tr>
 <tr>
 <td>Signs and symptoms</td>
 <td>Superficial lesion: confined to skin, may cause ptosisDeep lesion: non-axial proptosis with valsalva/crying increase in size, reduced vision/amblyopia</td>
 <td>Axial proptosis as intraconalHyperopia</td>
 </tr>
 <tr>
 <td>CT features</td>
 <td>Intra or extra-conal massPoorly defined marginsFeeding vessels</td>
 <td>Well defined, encapsulated intraconal tumourContrast enhancingNo feeding vessels</td>
 </tr>
 <tr>
 <td>Treatment</td>
 <td>Observation unless systemic/ocular complications. Options: intralesional steroid, systemic steroid, oral propranolol, antifibrinolytics, embolisation, radiotherapy, surgical excision</td>
 <td>Observation unless complicated/symptomatic</td>
 </tr>
 </tbody>
</table>


## AV fistulae
- Anastomoses between arterial and venous circulations
- High-flow: intracavernous internal carotid artery and cavernous sinus
- Low-flow (“dural shunt”): dural arteries (ie. internal/external carotid branches) and cavernous sinus

### Causes
- Congenital: eg. Mason-Wyburn syndrome
- Trauma
- Spontaneous: eg. with hypertension

### Clinical features
- High-flow
 - Reduced vision
 - Ophthalmoplegia
 - Audible bruit
 - Pulse-associated tinnitus
 - Pulsatile proptosis
 - Orbital oedema/chemosis
 - Raised IOP
 - RAPD
 - Optic disc swelling
 - Engorgement of retinal veins

- Low-flow
 - Can be asymptomatic
 - Pain
 - Chemosis
 - Raised IOP

### Tests
- Orbital imaging via
 - B-scan
 - CT/MRI

### Management
- High-flow: catheter embolisation
- Low-flow: may spontaneously close/thrombose

Hamartoma Non-neoplastic tumour of normal tissues for the site Typically involve blood vessels and melanocytes Haemangiomas: proliferation of blood…

Tumours, masses and neoplasia

AV Malformations and hamartomas

Arteriovenous malformations and hamartomas

Intro

FRCOphth Part 2 Study Notes

Tumours overview

Uveitis

Uveitis background

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