## 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

Tumours, masses and neoplasia

AV Malformations and hamartomas

Arteriovenous malformations and hamartomas

Intro

FRCOphth Part 2 Study Notes

Tumours overview

Uveitis

Uveitis background

Anterior uveitis

Intermediate uveitis

Uveitis in JIA

Uveitis with JIA

Retinal vasculitis

Sarcoidosis

Behcet's disease

Toxoplasmosis

Strabismus

Overview

Viral uveitis

Esotropia

Fungal uveitis

Mycobacterial uveitis

Adnexal masses

Exotropia

Spirochaetal uveitis (including Syphilis)

Melanoma

Nematode uveitis

Retinoblastoma

Retinoblastoma (for Part 2)

Incomitent

Voyt-Koyanagi-Harada syndrome

Conjunctival intraepithelial neoplasia

Vertical deviations

Orbit and ocular adnexae

Orbit

Sympathetic ophthalmia

Restriction syndromes

Paediatrics

Leucocoria

Congenital Cataract

Paediatric Glaucoma

Retinopathy of prematurity

Retinopathy of Prematurity

ROP-like disorders

Congenital nasolacrimal duct obstruction

White dot syndromes

Aniridia: Short Arm 11 Deletion (11p13)

Choristomas

Management Of Amblyopia

Alphabet patterns

Iris Nodules

Scleritis

Meningioma

Strabismus surgery

Optic nerve glioma

Lymphoma

Extraocular Muscles

Rhabdomyosarcoma

Idiopathic orbital inflammation

Orbital neuroblastoma

Anterior Persistent Foetal Vasculature

Lacrimal system

Metastatic lesions

Surgical Retina

Retinal Detachment

Vitreoretinal Interface And Macular Hole

Epiretinal Membrane

Medical Retina

Diabetic Eye Disease

Orbital Blood Vessels

Retinal Vascular Disease

Macular Degeneration

Central Serous Chorioretinopathy (CSCR)

Sickle Cell Retinopathy

Retinitis Pigmentosa

Albinism

Retinal Telangiectasias

Miscellaneous Retinopathies

Atropine And Myopia Progression

Pharmacology

Side Effects Of Systemic Drugs

Foetal Alcohol Syndrome

Neuro-ophthalmology

Optic Neuropathy

Papilloedema

Idiopathic Intracranial Hypertension

Chiasmal Disorders

Retrochiasmal Disorders

Migraine

Paranasal Sinuses

Supranuclear Motility Disorders

Third Nerve Palsies

Fourth Nerve Palsies

Sixth Nerve Palsies

Seventh Nerve Palsies

Anisocoria

Myasthenia Gravis

Myopathies

Blepharospasm

Functional Visual Loss

Lacrimal Glands

Phakomatoses

Developmental diseases

Tear Film

Eyelids

Blinking

Lid Malpositions

Anterior segment - ocular surface

Conjunctiva

Conjunctivitis

Sclera

Pigmented Conjunctival Lesions

Squamous Cell Carcinoma Of The Conjunctiva

Ocular Cicatricial Pemphigoid

Cornea

Corneal Structure And Development