Lacrimal duct problems

1.Dacryocystitis
It is infection of the lacrimal sac

Features:
1) watering eye (epiphora)
2) swelling and erythema at the inner canthus of the eye

Management:
1) With systemic antibiotics.
2) Intravenous antibiotics are indicated if there is associated periorbital cellulitis

2.Congenital lacrimal duct obstruction:

It affects around 5-10% of newborns.

It is bilateral in around 20% of cases

Features:
1) watering eye (even if not crying)
2) secondary infection may occur
3) Symptoms resolve in 99% of cases by 12 months of age

Blepharitis

Blepharitis is inflammation of the eyelid margins.

It may due to either:
1) Meibomian gland dysfunction (common, posterior blepharitis) or
2) Seborrhoeic dermatitis/Staphylococcal infection (less common, anterior
blepharitis).
Blepharitis is also more common in patients with Acne rosacea
The meibomian glands secrete oil on to the eye surface to prevent rapid evaporation
of the tear film. Any problem affecting the meibomian glands (as in blepharitis) can
hence cause drying of the eyes which in turns leads to irritation

Features:
1) Symptoms are usually bilateral

Grittiness and discomfort, particularly around the eyelid margins

Eyes may be sticky in the morning
Eyelid margins may be red.
Swollen eyelids may be seen in staphylococcal blepharitis
6) Styes and chalazions are more common in patients with blepharitis
7) Secondary conjunctivitis may occur
2)
3)
4)
5)

Management
1) softening of the lid margin using hot compresses twice a day
2) mechanical removal of the debris from lid margins: - cotton wool buds dipped in a

mixture of cooled boiled water and baby shampoo is often used*

3) artificial tears may be given for symptom relief in people with dry eyes or an
abnormal tear film
*an alternative is sodium bicarbonate, a teaspoonful in a cup of cooled water that has
recently been boiled

Herpes Simplex Keratitis

Herpes simplex keratitis most commonly presents with a dendritic corneal ulcer

Features:
1) red, painful eye
2) photophobia
3) epiphora
4) visual acuity may be decreased
5) fluorescein staining may show an epithelial ulcer, dendritic pattern of staining

Management:
1) Immediate referral to an ophthalmologist
2) Topical aciclovir

Herpes zoster ophthalmicus

Herpes zoster ophthalmicus (HZO) describes the reactivation of the varicella zoster
virus in the area supplied by the ophthalmic division of the trigeminal nerve.
It accounts for around 10% of case of shingles.

Features:
1) vesicular rash around the eye, which may or may not involve the actual eye itself
2) Hutchinson's sign: rash on the tip or side of the nose. Indicates nasociliary

involvement and is a strong risk factor for ocular involvement

Management:
1) Oral antiviral treatment for 7-10 days ideally started within 72 hours.

Topical antiviral treatment is not given in HZO

2) Oral corticosteroids may reduce the duration of pain but do not reduce the
incidence of post-herpetic neuralgia
3) Ocular involvement requires urgent ophthalmology review

Complications:
1) ocular: conjunctivitis, keratitis, episcleritis, anterior uveitis
2) ptosis
3) post-herpetic neuralgia

Band keratopathy

It is a corneal disease derived from the appearance of calcium on the central cornea

caused by calcium deposition in Bowmans layer

This is an example of metastatic calcification which by definition, occurs in the presence
of hypercalcaemia

Symptoms include pain and decreased visual acuity.

Treatment:
The calcium can be scraped off the cornea or removed with a laser.
This can restore sight, but it can take a number of months for normal vision to return
as the cornea will be damaged during the operation.
This cannot be repeated too many times as it would make the cornea thinner and
thinner

Cataracts
Majority:
1) age related
2) UV light
Systemic:
1) Diabetes mellitus
2) Steroids
3) Infection (congenital rubella)
4) Metabolic (hypocalcaemia, galactosaemia)
5) Myotonic dystrophy, down's syndrome
Ocular:
1) trauma
2) uveitis
3) high myopia
4) topical steroids

Classification:
1)
2)
3)
4)

Nuclear: change lens refractive index, common in old age

Polar: localized, commonly inherited, lie in the visual axis
Subcapsular: due to steroid use, just deep to the lens capsule, in the visual axis
Dot opacities: common in normal lenses, also seen in diabetes and myotonic
dystrophy

Lens dislocation
Causes:
1) Marfan's syndrome: upwards
2) homocystinuria: downwards
3) Ehlers-Danlos syndrome
4) trauma
5) uveal tumours
6) autosomal recessive ectopia lentis

Anterior uveitis
Anterior uveitis is one of the important differentials of a red eye. It is also referred to as
iritis.

Features:
1) acute onset
2) ocular discomfort & pain (may increase with use)
3) pupil may be irregular and small
4) photophobia (often intense)
5) blurred vision
6) red eyes
7) lacrimation
8) ciliary flush
9) visual acuity initially normal impaired

Associated conditions:
1)
2)
3)
4)

ankylosing spondylitis
reactive arthritis
ulcerative colitis, Crohn's disease
Behcet's disease

Management:
1) urgent review by ophthalmology
2) cycloplegics (dilates the pupil which helps to relieve pain and photophobia) e.g.

Atropine, cyclopentolate
3) steroid eye drops

Acute angle closure glaucoma

Glaucoma is a group disorders characterised by optic neuropathy due, in the

majority of patients, to raised intraocular pressure (IOP).
It is now recognised that a minority of patients with raised IOP do not have glaucoma
and vice versa
In acute angle closure glaucoma (AACG) there is a rise in IOP secondary to
impairment of aqueous outflow.

Factors predisposing to AACG include:

1) hypermetropia (long-sightedness)
2) pupillary dilatation
3) lens growth associated with age

Features:
1) severe pain: may be ocular or headache
2) decreased visual acuity

symptoms worse with mydriasis (e.g. watching TV in a dark room)

hard, red eye
haloes around lights
semi-dilated non-reacting pupil
corneal oedema results in dull or hazy cornea
8) systemic upset may be seen, such as nausea and vomiting and even abdominal
pain
3)
4)
5)
6)
7)

Management:
1) urgent referral to an ophthalmologist
2) management options include:
A) reducing aqueous secretions with acetazolamide and
B) inducing pupillary constriction with topical pilocarpine

Primary open-angle glaucoma

Glaucoma is a group disorders characterised by optic neuropathy due, in the

majority of patients, to raised intraocular pressure (IOP).
It is now recognised that a minority of patients with raised IOP do not have glaucoma
and vice versa
Primary open-angle glaucoma (POAG) also referred to as chronic simple glaucoma
It is present in around 2% of people older than 40 years.
Other than age, risk factors include:
1) family history
2) black patients
3) myopia
4) hypertension
5) diabetes mellitus

POAG may present insidiously and for this reason is often detected during
routine optometry appointments.

Features may include

1) peripheral visual field loss - nasal scotomas progressing to 'tunnel vision'
2) decreased visual acuity
3) optic disc cupping

Management:
1) The majority of patients with primary open-angle glaucoma are managed with eye drops.
2) These aim to lower intra-ocular pressure which in turn has been shown to prevent

progressive loss of visual field.

3) Surgery in the form of a trabeculectomy may be considered in refractory cases.
Medication

Mode of action

Notes

Prostaglandin
analogues (e.g.
Latanoprost)

Increases
uveoscleral outflow

Miotics (e.g.
pilocarpine, a
muscarinic receptor
agonist)

Increases
uveoscleral outflow

Adverse effects included a constricted

pupil, headache and blurred vision

Beta-blockers
(e.g. Timolol)

Reduces aqueous
production

Should be avoided in asthmatics

and patients with heart block

Carbonic anhydrase
inhibitors
(Dorzolamide)

Reduces aqueous
production

Systemic absorption may cause

sulphonamide-like reactions

Sympathomimetics
(e.g. brimonidine, an
alpha2-adrenoceptor
agonist)

1) Reduces aqueous

production and
2) increases outflow

Avoid if taking MAOI or tricyclic

antidepressants
Adverse effects include hyperaemia

Once daily administration

Adverse effects include brown
pigmentation of the iris

Age related macular degeneration

Age related macular degeneration is the most common cause of blindness in the UK.
Degeneration of the central retina (macula) is the key feature with changes usually
bilateral
Traditionally two forms of macular degeneration are seen:
A) Dry (geographic atrophy) macular degeneration:
Characterised by drusen (yellow round spots in Bruch's membrane)
B) Wet (exudative, neovascular) macular degeneration:
Characterised by choroidal neovascularisation.
Leakage of serous fluid and blood can subsequently result in a rapid loss of
vision.
Carries worst prognosis

Recently there has been a move to a more updated classification:

A) Early age related macular degeneration (non-exudative, age related maculopathy):
drusen and alterations to the retinal pigment epithelium (RPE)
B) Late age related macular degeneration (neovascularisation, exudative)

Risk factors:
1) age: most patients are over 60 years of age
2)
3)
4)
5)
6)

female sex
family history
more common in Caucasians
smoking
high cumulative sunlight exposure

Features:
1) reduced visual acuity: 'blurred', 'distorted' vision, central vision is affected first
2) central scotomas
3) fundoscopy: drusen, pigmentary changes

Investigation and diagnosis:

1) Optical coherence tomography: provide cross sectional views of the macula
2) if neovascularisation is present fluorescein angiography is performed

General management:
1) stop smoking
2) High dose of beta-carotene, vitamins C and E, and zinc may help to slow down visual

loss for patients with established macular degeneration.

3) Supplements should be avoided in smokers due to an increased risk of lung cancer
A) Dry macular degeneration: no current medical treatments
B) Wet macular degeneration:
1) Photocoagulation
2) Photodynamic therapy
3) Anti-vascular endothelial growth factor (anti-VEGF) treatments: intravitreal
ranibizumab
9

Angioid Retinal Streaks

Angioid retinal streaks are seen on fundoscopy as irregular dark red streaks
radiating from the optic nerve head.
They are caused by degeneration, calcification and breaks in Bruch's membrane.

Causes: ASPEP
Acromegaly
Sickle-cell anaemia
Paget's disease
Ehler-Danlos syndrome
5) Pseudoxanthoma elasticum
1)
2)
3)
4)

10

Choroidoretinitis
Causes
1) syphilis
2) cytomegalovirus
3) toxoplasmosis
4) sarcoidosis
5) tuberculosis

11

Diabetic Retinopathy

Diabetic retinopathy is the most common cause of blindness in adults aged 35-65 yearsold.
Hyperglycaemia is thought to cause increased retinal blood flow and abnormal
metabolism in the retinal vessel walls.
This precipitates damage to endothelial cells and pericytes.
Endothelial dysfunction leads to increased vascular permeability which causes the
characteristic exudates seen on fundoscopy.
Pericyte dysfunction predisposes to the formation of microaneurysms.
Neovasculization is thought to be caused by the production of growth factors in
response to retinal ischaemia.
In exams you are most likely to be asked about the characteristic features of the various
stages/types of diabetic retinopathy.
Recently a new classification system has been proposed, dividing patients into those
with non-proliferative diabetic retinopathy (NPDR) and those with proliferative
retinopathy (PDR):

Traditional classification

New classification

Background retinopathy:
1) microaneurysms (dots)
2) blot haemorrhages (<=3)
3) hard exudates

Mild NPDR
1 or more microaneurysm

Pre-proliferative retinopathy:
1) cotton wool spots (soft
exudates; ischaemic nerve
fibres)
2) > 3 blot haemorrhages
3) venous beading/looping
4) deep/dark cluster
haemorrhages more common
in Type I DM, treat with laser
photocoagulation

Moderate NPDR
1) microaneurysms
2) blot haemorrhages
3) hard exudates
4) cotton wool spots, venous beading/looping
and intraretinal microvascular abnormalities
(IRMA) less severe than in severe NPDR
Severe NPDR
1) blot haemorrhages and microaneurysms in 4
quadrants
2) venous beading in at least 2 quadrants
3) IRMA in at least 1 quadrant

Proliferative retinopathy:
1) retinal neovascularisation - may lead to vitrous haemorrhage
2) fibrous tissue forming anterior to retinal disc
3) more common in Type I DM, 50% blind in 5 years
Maculopathy:
1) based on location rather than severity, anything is potentially serious
2) hard exudates and other 'background' changes on macula
3) check visual acuity
4) more common in Type II DM

12

Tunnel vision
Tunnel vision is the concentric diminution of the visual fields
Causes:
1) papilloedema
2) glaucoma
3) retinitis pigmentosa
4) choroidoretinitis
5) optic atrophy secondary to tabes dorsalis
6) hysteria

Retinitis pigmentosa
Retinitis pigmentosa primarily affects the peripheral retina resulting in funnel vision

Features:
1) night blindness is often the initial sign
2) funnel vision (the preferred term for tunnel vision)
3) fundoscopy: black bone spicule-shaped pigmentation in the peripheral retina,

mottling of the retinal pigment epithelium

Associated diseases:
1) Refsum disease: cerebellar ataxia, peripheral neuropathy, deafness, ichthyosis
2) Usher syndrome
3)
4)
5)
6)

abetalipoproteinemia
Lawrence-Moon-Biedl syndrome
Kearns-Sayre syndrome
Alport's syndrome

Fundus showing changes secondary to

retinitis pigmentosa

Congenital Hypertrophy of the Retinal Pigment Epithelium (CHRPE):

A) Typical CHRPE:
Gray or black depigmented lacunae
Found in 1 quadrant of eye
Do not affect vision
B) Atypical CHRPE:
White fish tail shaped bilaterally
Affect the vision when there are > 4 in each eye
Associated with Adenosis polyposis and Gardners syndrome do colonoscopy.
13

Papilloedema
The following features may be observed during fundoscopy:
1) venous engorgement: usually the first sign
2) loss of venous pulsation: although many normal patients do not have normal
3)
4)
5)
6)

pulsation
blurring of the optic disc margin
elevation of optic disc
loss of the optic cup
Paton's lines: concentric/radial retinal lines cascading from the optic disc

Causes of papilloedema:
1) space-occupying lesion: neoplastic, vascular
2) malignant hypertension
3) idiopathic intracranial hypertension
4) hydrocephalus
5) hypercapnia

Rare causes include:

1) hypoparathyroidism and
2) hypocalcaemia
3) vitamin A toxicity

14

Optic neuritis
Causes:
1) Multiple sclerosis
2) Diabetes
3) Syphilis

Features:
1) unilateral decrease in visual acuity over hours or days
2) poor discrimination of colours, 'red desaturation'
3) pain worse on eye movement
4) relative afferent pupillary defect
5) central scotoma

Management:
1) high-dose steroids
2) recovery usually takes 4-6 weeks

Prognosis:

MRI: if > 3 white-matter lesions, 5-year risk of developing multiple sclerosis is c.

50%

Retrobulbar Neuritis
Inflammation behind the optic nerve head, the optic disc is normal.
Patient sees nothing, Doctor sees nothing

Features:
1) Visual acuity loss
2) Afferent pupillary defect during swinging flashing light
3) Color vision will be reduced (red looks pallor)

15

Optic atrophy

Optic atrophy is seen as pale, well demarcated disc on fundoscopy.

It is usually bilateral and causes a gradual loss of vision*.
Causes may be acquired or congenital

Acquired causes:
1) multiple sclerosis
2) papilloedema (longstanding)
3) raised intraocular pressure (e.g. glaucoma, tumour)
4) retinal damage (e.g. choroiditis, retinitis pigmentosa)
5) ischaemia
6) toxins: tobacco amblyopia, quinine, methanol, arsenic, lead
7) nutritional: vitamin B1, B2, B6 and B12 deficiency

Congenital causes:
1) Friedreich's ataxia
2) mitochondrial disorders e.g. Leber's optic atrophy
3) DIDMOAD - the association of cranial Diabetes Insipidus, Diabetes Mellitus, Optic

Atrophy and Deafness (also known as Wolfram's syndrome)

*strictly speaking optic atrophy is a descriptive term, it is the optic neuropathy that
results in visual loss

Relative afferent pupillary defect

Also known as the Marcus-Gunn pupil,

A relative afferent pupillary defect is found by the 'swinging light test'.
It is caused by a lesion anterior to the optic chiasm i.e. optic nerve or retina

Causes:
1) retina: detachment
2) optic nerve: optic neuritis e.g. multiple sclerosis

Pathway of pupillary light reflex:

afferent: retina optic nerve lateral geniculate body midbrain

efferent: Edinger-Westphal nucleus (midbrain) oculomotor nerve

16

Temporal arteritis

Temporal arteritis is large vessel vasculitis which overlaps with polymyalgia

rheumatica (PMR).
Histology shows changes which characteristically 'skips' certain sections of affected
artery whilst damaging others.

Features:
1) typically patient > 60 years old
2) usually rapid onset (e.g. < 1 month)
3) headache (found in 85%)
4) jaw claudication (65%)
5) visual disturbances secondary to anterior ischemic optic neuropathy
6) tender, palpable temporal artery
7) features of PMR: aching, morning stiffness in proximal limb muscles (not

weakness)
8) also lethargy, depression, low-grade fever, anorexia, night sweats

Investigations:
1) Raised inflammatory markers: ESR > 50 mm/hr (note ESR < 30 in 10% of patients).

CRP may also be elevated

2) temporal artery biopsy: skip lesions may be present
3) Note creatine kinase and EMG normal

Treatment:
1) high-dose prednisolone - there should be a dramatic response, if not the diagnosis
should be reconsidered
2) urgent ophthalmology review. Patients with visual symptoms should be seen the
same-day by an ophthalmologist. Visual damage is often irreversible

17

Red eye

There are many possible causes of a red eye.

It is important to be able to recognise the causes which require urgent referral to an
ophthalmologist.
Below is a brief summary of the key distinguishing features:

1. Acute angle closure glaucoma:

1) severe pain (may be ocular or headache)
2) decreased visual acuity, patient sees haloes
3) semi-dilated pupil
4) hazy cornea
2. Anterior uveitis:
1) Acute onset
2) Pain
3) Blurred vision and photophobia
4) Small, fixed oval pupil, ciliary flush
3. Scleritis:
1) severe pain (may be worse on movement) and tenderness
2) may be underlying autoimmune disease e.g. rheumatoid arthritis
4. Conjunctivitis:
1) purulent discharge if bacterial,
2) clear discharge if viral
5. Subconjunctival haemorrhage:
history of trauma or coughing bouts

18

Sudden Painless Loss Of Vision

The most common causes of a sudden painless loss of vision are as follows:
1) ischaemic optic neuropathy (e.g. temporal arteritis or atherosclerosis)
2) occlusion of central retinal vein
3) occlusion of central retinal artery
4) vitreous haemorrhage
5) retinal detachment

1. Ischaemic optic neuropathy:

1) may be due to:
A. arteritis (e.g. temporal arteritis) or
B. atherosclerosis (e.g. hypertensive, diabetic older patient)
2) due to occlusion of the short posterior ciliary arteries, causing damage to the
optic nerve
3) altitudinal field defects are seen

2. Central retinal vein occlusion

1) incidence increases with age, more common than arterial occlusion
2) causes: glaucoma, polycythaemia, hypertension
3) severe retinal haemorrhages are usually seen on fundoscopy

19

Widespread retinal hemorrhages in all 4

quadrants, which vary in appearance from a
small-scattered retinal hemorrhages to
marked confluent hemorrhages
Marked dilated and tortuous retinal vessels
Cotton-wool spots
Optic disc edema, macular edema, and retinal
thickening
Vitreous hemorrhages may be present

3. Central retinal artery occlusion

1) due to thromboembolism (from atherosclerosis) or arteritis (e.g. temporal
arteritis)
2) features include afferent pupillary defect, 'cherry red' spot on a pale retina

Diffuse edema makes the retina and arteries

look pale.
Perfused underlying tissues show through the
thin fovea giving a classic cherry-red spot
appearance.

4. Vitreous haemorrhage:
1) causes: diabetes, bleeding disorders
2) features may include sudden visual loss, dark spots

5. Retinal detachment:
features of vitreous detachment, which may precede retinal detachment, include
flashes of light or floaters (see below)
Differentiating posterior vitreous detachment, retinal detachment and vitreous
haemorrhage
Posterior vitreous
detachment
1) Flashes of light

(photopsia) in the
peripheral field of
vision
2) Floaters, often on the

temporal side of the

central vision

Retinal detachment

Vitreous haemorrhage

1) Dense shadow that starts

1) Large bleeds cause

peripherally progresses
towards the central
vision
2) A veil or curtain over the
field of vision
3) Straight lines appear
curved
4) Central visual loss

sudden visual loss

2) Moderate bleeds may be
described as numerous
dark spots
3) Small bleeds may cause
floaters

20

Mydriasis
Causes of mydriasis (large pupil):
1) third nerve palsy
2) Holmes-Adie pupil
3) traumatic iridoplegia
4) phaeochromocytoma
5) congenital

Drug causes of mydriasis

1) topical mydriatics: tropicamide, atropine
2) sympathomimetic drugs: amphetamines, cocaine
3) anticholinergic drugs: tricyclic antidepressants

Miosis
Causes of miosis (small pupil)
1)
2)
3)
4)
5)

Horner's syndrome
Argyll-Robertson pupil
senile miosis
pontine haemorrhage
congenital

Drugs causes:
1) opiates
2) parasympathomimetics: pilocarpine
3) organophosphate toxicity

Ptosis
Ptosis may be unilateral or bilateral
Causes of bilateral ptosis:
1) myotonic dystrophy
2) myasthenia gravis
3) syphilis
4) congenital
Causes of unilateral ptosis:, as above plus:
1) third nerve palsy
2) Horner's

21

Horner's syndrome
Features:
1) ptosis
2) miosis (small pupil)
3) anhydrosis (loss of sweating one side)
4) enophthalmos* (sunken eye)
*in reality the appearance is due to a narrow palpebral aperture rather than true
enophthalmos
Distinguishing between causes
1) heterochromia (difference in iris colour) is seen in congenital Horner's
2) anhydrosis: see below
Central lesions

Pre-ganglionic lesions

Post-ganglionic lesions

Anhydrosis of the face, arm and

trunk

Anhydrosis of the face

No anhydrosis

Stroke
Syringomyelia
Multiple sclerosis
Tumour
Encephalitis

Pancoast's tumour
Thyroidectomy
Trauma
Cervical rib

Carotid artery dissection

Carotid aneurysm
Cavernous sinus
thrombosis
Cluster headache

22

Holmes-Adie pupil (Myotonic pupil)

It is a benign condition most commonly seen in young women

it is common and usually unilateral (80% of cases)
May occur after an episode of zoster infection.
This is a dilated, often irregular pupil;
once the pupil has constricted it remains small for an abnormally long time
Slowly reactive to accommodation but very poorly (if at all) to light.
This is due to denervation in the ciliary ganglion, of unknown cause, and has no other
pathological significance.
At the beginning of the condition the pupil is large, but over time becomes small and
poorly reactive.
In adults it tends to be a benign condition and is simply observed, however infants
are usually referred because of an association with familial dystonias
Diagnosis:
1) Slit lamp examination may reveal small worm like contractions of the iris, but
2) pilocarpine eye drops:
The usual diagnostic test
Use weak pilocarpine eye drops, which induce vigorous pupil contraction on
the affected side, but only weak contraction of the pupil on the unaffected side.
Holmes-Adie syndrome
association of Holmes-Adie pupil with absent ankle/knee reflexes

Argyll Robertson pupil (Accommodate but not react; prostitute pupil)

Argyll-Robertson pupil is one of the classic pupillary syndromes. (Now rarely seen
in clinical practice)
It is sometimes seen in neurosyphilis and is often said to be the prostitute's pupil accommodates but doesn't react!
Another mnemonic used for the Argyll-Robertson Pupil (ARP) is Accommodation
Reflex Present (ARP) but Pupillary Reflex Absent (PRA)
Features:
1) A small, irregular pupil
2) no response to light but there is a response to accommodate
Causes:
1) syphilis (Once Considered diagnostic of neurosyphilis)
2) diabetes mellitus (It is now only occasionally seen in diabetes or MS)
3) The lesion is in the brainstem surrounding the aqueduct of Sylvius.

23

Trochlear Nerve Palsy: cause torsional diplopia, Torsion is a normal response to tilting the head
sideways. The eyes automatically rotate in an equal and opposite direction, so that the orientation of
the
environment remains unchanged vertical things remain vertical.

Rheumatoid arthritis: ocular manifestations

Ocular manifestations of rheumatoid arthritis are common, with 25% of patients having
eye problems
Ocular manifestations:
1) keratoconjunctivitis sicca (most common)
2) episcleritis (erythema)
3) scleritis (erythema and pain)
4) corneal ulceration
5) keratitis
Iatrogenic:
1) steroid-induced cataracts
2) chloroquine retinopathy

24

This is an albino fundus. There is no retinal pigmentation and all the blood vessels can be
clearly seen.
Nystagmus and photophobia are common findings in albinos.

Albinism represents a group of inherited abnormalities of melanin synthesis

characterised by a congenital reduction or absence of melanin pigment, in
association with specific developmental changes in the optic system resulting from
the hypopigmentation.
Oculocutaneous albinism (OCA) involves two regions of the body:
1. The skin and hair
2. The optic system including the eye and the optic nerves.

Ocular albinism (OA) has the same changes in the optic system by reducing mainly
the pigment in the retinal pigment epithelium of the eye, usually with no clinical
difference in the colour of the skin and hair.
The albino macula is always hypoplastic, and the patient has reduced acuity and
pendular nystagmus. Strabismus is also common.
Oculocutaneous albinism
Tyrosinase-related oculocutaneous albinism (OCA1)

This is an autosomal recessive disorder characterised by absence of pigment in

hair, skin, and eyes, and does not vary with race or age. Severe nystagmus,
photophobia, and reduced visual acuity are common features.
OCA1 is divided into two types:
1. Type IA, characterised by complete lack of tyrosinase activity due to production of an inactive
enzyme.
2. Type IB (also called yellow OCA), characterised by reduced activity of tyrosinase.
P-gene related oculocutaneous albinism (OCA2)

OCA2 is the most common type of albinism, and is especially frequent among
African-Americans and Africans. The estimated frequency of OCA2 in the African25

American population is 1 in 10,000, which contrasts with a frequency of 1 in 36,000

in Caucasians.
Chediak-Higashi syndrome

This is autosomal recessive. Patients may have a silvery sheen to their skin, and
blue to brown irises. Patients have an increased susceptibility to infection,
hepatosplenomegaly, lymphadenopathy and a predisposition to development of a
lymphoma-like condition.
Hermansky-Pudlak syndrome

This is autosomal recessive. It is associated with the absence of platelet-dense

bodies, resulting in a loss of secondaryAGGREGATION of platelets after stimulation,
and a predisposition to bruising and bleeding which can be severe. There is a higher
frequency in Puerto Rico.
Ocular albinism
X-linked ocular albinism type 1 (OA1)

Although this type of albinism is categorised as a type of ocular albinism, the

melanocytes in the skin and hair follicles are also involved. Individuals with OA1
have normal-looking cutaneous pigment, variable iris pigment, and reduced or
absent retinal pigment associated with foveal hypoplasia and optic tract misrouting.
The OA1 gene maps to the X chromosome at Xp22.3.
Other options listed in the question.

Abetalipoproteinaemia is associated with retinitis pigmentosa.

Chronic granulomatous disease presents with recurrent infections due to an
inability to generate the oxidative burst necessary for phagocyte killing; it is not
associated with any fundal abnormality.
Cystic fibrosis is associated with recurrent lower respiratory tract infections but not
with fundal abnormality.
Type 1 DM is associated with infections and eye disease - though diabetic
retinopathy does not have this appearance.

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The slide shows hyphaema: blood in the anterior chamber.

It is usually caused by trauma - often small objects (champagne corks, squash balls) hitting
the eye.
Aspiration may be required to prevent loss of vision.

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The slide shows the typical appearance of central retinal vein occlusion. Central retinal vein
occlusion is most common in elderly patients, secondary to:

glaucoma
diabetes mellitus
hypertension
increased blood viscosity
high haematocrit
optic disc edema
hypercoagulable states
vasculitis
retrobulbar compression by tumors, or
Grave's opthalmopathy.

In the young person it can be idiopathic or the result of retinal phlebitis.

The presentation of central retinal vein occlusion has been described as follows1:
"Patients usually present with painless loss of vision and are found to have diffuse retinal
hemorrhages in all four quadrants of the retina as well as dilated, tortuous veins, cottonwool spots, disc edema, optociliary shunt vessels and neovessels might also be present."

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The slide shows yellow papules (pingueculae) in the cornea; these are characteristic of
Gaucher disease.
Gaucher disease is inherited as an autosomal recessive disease. The disease is caused by
a deficiency of the enzyme glucocerebrosidase, essential for the metabolism of glycolipids.
There are three types of Gaucher disease:

Type 1: Chronic non-neuropathic; adult Gaucher disease

Type 2: Acute neuropathic; infantile Gaucher disease
Type 3: Subacute neuropathic; juvenile Gaucher disease

Patients with all types of disease have hepatosplenomegaly and large glucocerebrosiderich cells (Gaucher cells) infiltrating the bone marrow.
Type 2, infantile Gaucher disease, carries the worst prognosis, with children seldom
surviving beyond 2 years.
Type 1 disease is the commonest, usually presenting in childhood with
hepatosplenomegaly, but not uncommonly in middle or old age.
Bone marrow replacement and hypersplenism result in anaemia and thrombocytopenia.
Pathological bone fractures and avascular necrosis of the femoral heads are not
uncommon.
Bony disease may be confined to the distal ends of the femurs, with formation of
characteristic 'Erlenmeyer flask' shaped cysts.
The skin may show a grey-brown discolouration, especially around the forehead, hands
and pre-tibial regions. Characteristic yellow or yellow-brown papules (pingueculae) develop
at the sclerocorneal junctions.
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Loss of night vision and peripheral vision are classic features of retinitis pigmentosa.
The fundi shows the characteristic 'bone spicule' areas of pigmentation in the periphery of
the retina.

The fundus shows small pale dots over the macular area typical of drusen.
This is macular degneration and one of the commonest causes of blindness.

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