## Thygeson’s superficial punctate keratopathy
- Rare, bilateral, idiopathic (viral?)
- Associated with HLA-DR3
- Onset in young adults
- Clinical features
    - Recurrent FB sensation
    - Photophobia
    - Epiphora
    - Coarse, stellate grey-white epithelial opacities which appear elevated but **are non-staining**
    - White eye

- Treatment
    - Topical steroids: effective but may **increase** the rate of recurrence
    - Topical cyclosporine
    - Therapeutic CL

## Interstitial keratitis
- Stromal inflammation without primary epithelial/endothelial involvement
- Infective
    - Syphilis: congenital or acquired
    - TB
    - Leprosy
    - Herpetic
    - Onchocerciasis
    - Lyme disease

- Non-infective
    - Sarcoidosis
    - Cogan’s syndrome

## Megalocornea
- Rare inherited condition
- Simple megalocornea (no structural abnormalities) is autosomal dominant
- Anterior megalocornea (strucutral abnormalities) is X-linked recessive, therefore seen mostly in men
    - Carrier mothers have slightly enlarged corneas

- Corneal diameter is greater than **13mm** after the age of 2 years (but otherwise histologically normal)
- Not progressive
- Normal IOP (cp. Buphthalmos and congenital glaucoma)
- Associated with
    - Downs
    - Marfans
    - Alports
    - Aperts (craniosynostosis)
    - Goldenhar’s

- Associated features
    - Miosis
    - Cataract
    - Iris translucency/hypoplasia
    - Ectopia lentils
    - Ectopic pupil
    - Goniodysgenesis: the anterior chamber angle may be visible without gonioscopy

## Microcornea
- Cornea less than **10mm**
- Autosomal dominant inheritance
- Associated with angle closure glaucoma, open angle glaucoma, hyperopia
- Systemic associations
    - Dwarfism, achondroplasia
    - Myotonic dystrophy
    - Foetal alcohol syndrome

## Vortex keratopathy
- Whorl-like deposition of material in the epithelium
- Caused by
    - Fabry’s disease
    - Amiodarone
    - Chlorpromazine
    - Chloroquine
    - Indomethacin
    - Meperidine
    - Tamoxifen

## Peters anomaly
- Sporadic
- Bilateral in 2/3rds
- Absent posterior corneal tissue and leukoma
    - \+/- iris adhesions to leukoma (Peters type 1, PAX6, FOXC1)
    - \+/- lens-corneal adhesions (Peters type 2, FOXE3): due to failure of the lens vesicle to separate from surface ectoderm

- Corneal opacification leads to amblyopia
- Peter’s plus syndrome:
    - Short stature
    - Developmental delay
    - Dysmorphic face
    - Cardiac, GU and CNS malformation

- Associated with
    - Glaucoma
    - Corectopia
    - Iris hypoplasia
    - Cataract
    - ICE
    - Aniridia
    - Iris coloboma
    - Persistent fetal vasculature
    - Microcornea 

## Axenfeld Reiger syndrome
- Abnormal migration of neural crest cells
- Leads to glaucoma in 50%
- Autosomal dominant, PITX2 and FOXC1 gene
- Comprises
    - Posterior embryotoxon
    - Corectopia
    - Iris atrophy (Rieger’s anomaly)
    - Iridocorneal adhesions
    - Ectropion uveae  

- Systemic features
    - Maxillary hypoplasia (hypo/micro-dontia)
    - Redundant periumbilical skin
    - Hypospadias 

## Superior limbic keratoconjunctivitis
- Thought to be due to **mechanical trauma** of the upper eyelid on the superior limbic area
- Adult women
- Asymmetrically bilateral
- Features
    - Papillary reaction on palpebral conjunctiva
    - Hypertrophy of superior conj
    - PEEs
    - Fine superior corneal pannus

- Associated with **thyroid abnormalities**
- Management: aggressive lubrication, resection/cautery of conj, soft CLs, topical cyclosporin

## Ocular cicatricial pemphigoid
- Chronic, bilateral, disease of mucosal surfaces (including extraocular tissues)
- Elderly patients
- Clinical features
    - Chronic conjunctivitis
    - Subconjunctival fibrosis
    - Symblepharon
    - Forniceal shortening
    - Ankyloblepharon
    - Conjunctival keratinization
    - Corneal scarring and neovascularization

- Histology
    - Decreased conjunctival goblet cells
    - Conjunctival scrapings: lymphocytes, plasma cells, eosinophils
    - **IgA at the level of the basement membrane** on immunofluorescence

- Differential includes: drug-related eg antivirals, miotics, epinephrine and timolol, chemical burns, radiation, ocular rosacea and SJS

- Management
    - Oral dapsone
    - Systemic prednisolone
    - Cyclophosphamide
    - Mycophenolate

## Deposition keratopathies
- Wilson’s disease: copper deposition (**reduced** serum ceruloplasmin)
    - Autosomal recessive
    - Kayser-Fleischer ring: brownish discolouration of peripheral Descemet’s (may disappear with treatment: systemic penicillamine)
    - Sunflower cataract: copper deposition in the anterior capsule in a petaloid configuration
    - Systemic features

- Vortex keratopathy (corneal verticillata): epithelial opacities in a whorl-pattern
    - Fabry’s disease (a sphingolipidoses)
    - Amiodarone
    - Chloroquine
    - Indometacin
    - Tamoxifen
    - Chlorpromazine
    - Atovaquone

- Crystalline keratopathies
    - Infectious crystalline keratopathy: bacterial colonisation of corneal graft  
        - Typically following a PK in patients on topical corticosteroids long term
        - Grey-white branching opacities with crystalline appearance in mid-stroma
        - Quiet eye (ie. absent inflammation)
        - Bacteria probably enter via suture track
        - Most commonly due to **streptococcus viridans** (alpha-haemolytic strep). Also strep pneumoniae, haemophilus, mycobacterium species
        - Management is topical antibiotics

    - Mineral deposits
        - Gold
        - Calcium: band keratopathy

    - Immunoglobulin (in multiple myeloma, Waldenstrom’s macroglobulinaemia, lymphoma)
    - Urate: gout
    - Cysteine (cystinosis): autosomal recessive. Infantile, adolescent and adult forms. Crystals are deposited in the anterior stroma. Associated renal failure (nephrotic), and patchy depigmentation of the RPE
    - Lipid deposit: Schnyder’s, lipid keratopathy
    - Medication
        - Ciprofloxacin
        - Others as above for vortex keratopathy

- Mucopolysaccharidosis keratopathy
    - Hurler’s syndrome (MPS 1)

## Fabry’s disease
- Sphingolipidoses: inherited in X-linked pattern
    - Defective alpha galatosidase A

- Corneal verticillata
- Peripheral neuropathy
- Early angiokeratomas: a painful rash from knees to umbilicus
- Later in life (30s):
    - Renal failure
    - Cardiac complications

## Tyrosinaemia
- Autosomal recessive defect in tyrosine aminotransferase. Associated intellectual disability
- High serum (and urine) tyrosine with normal serum phenylalanine
- Children present with recurrent pseudodendrites (may be misdiagnosed with HSV keratitis)
- Management: dietary restriction of tyrosine and phenylalanine

## Tay-Sach’s
- Defect in hexosaminidase A which leads to accumulation of ganglioside GM2. this is deposited around the body
- Features
    - Seizures
    - Learning disability
    - Poor swallow
    - Reduced vision: cherry-red spot due to accumulation of abnormal protein in the ganglion cells around the fovea

## Cogan’s syndrome
- Autoimmune disease
    - Hearing loss
    - Vertigo
    - Stromal keratitis

- Young adults with a URTI prodrome
- Associated with polyarteritis nodosa
- Management: topical and oral steroids

## Arcus senilis
- Almost universal bilaterally by age 80
- If unilateral (rare), may be associated with hypotony and/or carotid artery disease (consider carotid doppler)
- In a patient under 40, might indicate familial hyperlipidaemia

## Band keratopathy
- Precipitation of calcium in the epithelial basement membrane, Bowman’s and anterior stroma
    - May also be causes by urate deposition such as in gout. Corneal deposits are more brown in appearance

- Histopathology
    - Basophilic material (ie. calcium) accumulating at Bowman’s layer
    - Highlighted with stains:
        - Von Kossa: calcium appears black
        - Alizarin red: calcium appears red
        - Haematoxylin and eosin (H&E): stains calcium bluish/dark purple

- Causes
    - Idiopathic/congenital including Norrie’s disease
    - Chronic inflammation eg uveitis, longstanding RD, graft rejection, phthisis, exposure keratopathy
    - Hypercalcaemia: eg hyperparathyroidism, sarcoidosis, Paget’s disease, metastatic cancer to the bone
    - Elevated serum phosphorus eg in renal failure
    - Chemical exposure
    - Silicone oil in the aphakic eye
    - Ichthyosis 

- Management
    - Conservative
        - Lubrication
        - Bandage contact lens
        - Treatment of systemic conditions with elevated calcium

    - Superficial keratectomy +/- EDTA chelation +/- diamond-burr polishing

## Bullous keratopathy
- Causes
    - Pseudophakic
    - Fuchs
    - End-stage glaucoma
    - Longstanding inflammation
    - Chemical burns

- Management
    - Conservative:
        - Lubricants
        - Hypertonic saline
        - IOP-lowering
        - Therapeutic CL
        - Hair-dryer

    - Surgical
        - DSAEK if good visual potential
        - Palliative procedures if poor visual potential and painful: tarsorrhaphy, Gunderson flap, enucleation

## Labrador keratopathy aka spheroidal degeneration
- Bilateral
- Affects the interpalpebral fissure
- Elastotic degeneration associated with UV exposure
- Managed with lubrication (does not generally affect vision)

## Salzmann nodular degeneration
- Hyaline material deposits in Bowman’s layer
- Nodules with a translucent appearance
- Thought to be due to chronic irritation eg. contact lens use

## Chemical injury
- Acute issues
    - Abrasion
    - Perforation
    - Infection
    - Glaucoma: uveitic, trabeculitis, lens-induced, PAS, steroid response

- Chronic issues
    - Trichiasis, distichiasis
    - Cicatricial entropion/ectropion
    - Cicatricial conjunctivitis, dry eyes, symblepharon
    - Persistent epithelial defect
    - Limbal stem cell failure
    - Stromal scar
    - Glaucoma
    - Iritis
    - Cataract

- Roper-Hall classification of injury
    - Grade 1: clear cornea, no limbal ischaemia. Excellent prognosis
    - Grade 2: hazy cornea, &lt;⅓ limbal ischaemia. Good prognosis
    - Grade 3: opaque cornea, ⅓ to ½ limbal ischaemia. Fair prognosis
    - Grade 4: opaque cornea, >½ limbal ischaemia. Poor prognosis

- Dua’s grading
    - Assesses clock hours of limbal involvement in ‘3s’ and percentage of conjunctival involvement 

<HotTopic>
Grading of chemical injuries is a hot topic in exams!
</HotTopic>

- Management
    - Irrigation
        - Remove particulate matter (sweep cotton bud into fornices)
        - Debride devitalised tissue

    - Antibiotics to prevent secondary infection
    - Steroids
    - Promote surface healing: lubrication, tetracyclines (MMP inhibitor to prevent collagen breakdown), vitamin C (cofactor in collagen synthesis). Topical vitamin C has high tissue penetration.
        - BCL
        - Lid closure

    - Analgesia and cycloplegics
    - Autologous serum drops
    - Debride conjunctival epithelium from cornea if conjunctivalisation occurring
        - However if no corneal epithelium develops, it should be allowed to conjunctivalise to prevent stromal melt and can be addressed surgically later.

    - Conformer to prevent forniceal contracture
    - Limbal stem cell deficiency: amniotic membrane transplant, limbal stem cell transplant/autograft
    - Scars: lamellar or penetrating keratoplasty
    - Management of complications eg. glaucoma


Thygeson’s superficial punctate keratopathy Rare, bilateral, idiopathic (viral?) Associated with HLA-DR3 Onset in young adults Clinical features Recurrent…

Cornea

Miscellaneous Keratopathies

Intro

FRCOphth Part 2 Study Notes

Tumours, masses and neoplasia

Tumours overview

Uveitis

Uveitis background

Anterior uveitis

Intermediate uveitis

Uveitis in JIA

Uveitis with JIA

Retinal vasculitis

Sarcoidosis

Behcet's disease

Toxoplasmosis

Viral uveitis

Strabismus

Overview

Esotropia

Fungal uveitis

Mycobacterial uveitis

Adnexal masses

Spirochaetal uveitis (including Syphilis)

Exotropia

Melanoma

Nematode uveitis

Retinoblastoma

Retinoblastoma (for Part 2)

Incomitent

Voyt-Koyanagi-Harada syndrome

Conjunctival intraepithelial neoplasia

Vertical deviations

Sympathetic ophthalmia

Orbit and ocular adnexae

Orbit

AV Malformations and hamartomas

Arteriovenous malformations and hamartomas

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

Scleritis

Iris Nodules

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

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Orbital Blood Vessels

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Macular Degeneration

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Atropine And Myopia Progression

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Neuro-ophthalmology

Optic Neuropathy

Papilloedema

Idiopathic Intracranial Hypertension

Chiasmal Disorders

Retrochiasmal Disorders

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Blepharospasm

Functional Visual Loss

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Developmental diseases

Tear Film

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Anterior segment - ocular surface

Conjunctiva

Conjunctivitis

Sclera

Pigmented Conjunctival Lesions

Squamous Cell Carcinoma Of The Conjunctiva

Ocular Cicatricial Pemphigoid

Corneal Structure And Development