1.2 Anterior Segment Differential Diagnoses and Aetiologies

When describing differential diagnoses, try to categorise your list into either:

  1. Most common first
  2. Most serious first
  3. Pathological sub-groups (e.g. infection, neoplasia etc.)

Contents

Cataract (Congenital)

Always stand back and examine the patient as a whole. Age / gender / ethnicity are often useful in narrowing the potential differential diagnoses. Iris heterochromia, symblephara, ankyloblepharon and forniceal shortening are often more obvious on gross inspection before beginning the slit lamp examination.

A. Isolated
  1. Sporadic (1/3): Unilateral (“two-hit” hypothesis)
  2. Hereditary (1/3): Bilateral 75% AD
B. Associated Syndrome, Ocular or Systemic Disease (1/3, Bilateral) “MAGIC”

Metabolic

  1. Hypoglycaemia
  2. Galactosaemia (oil drop cataract)
  3. Wilson Disease
  4. Alport Syndrome
  5. Lower Syndrome

Anterior Segment Dysgenesis

  1. Axenfield-Reiger
  2. Peters
  3. Aniridia

Genetic

  1. Autosomal Dominant
  2. Marfan Syndrome
  3. Myotonic Dystrophy

Infections

  1. TORCH/Syphilis

Chromosomal

  1. Down Syndrome
  2. Patau Syndrome
  3. Edward Syndrome
C. Trauma
D. Steroids
  • JIA in young children
E. Radiation

Cataract (Unilateral)

  • Trauma
  • Post-Vitrectomy
  • Steroid Drops
  • Uveitis (e.g. Fuchs heterochromic iridocyclitis)
  • Atopy
  • Malignancy
Figure 1.2.1 Left Unilateral Cataract

Figure 1.2.1
Left Unilateral Cataract

Conjunctival Follicles “LID”

  1. Lymphoma
  2. Infectious
    i. Viral: Adenoviral, Molluscum, Herpetic
    ii. Bacterial: Chlamydia, Gonorrhea
  3. Drugs
    i. Briminodine

Not allergic!
NB: Papillae are non-specific

Figure 1.2.2 Follicles

Figure 1.2.2
Follicles

Figure 1.2.3 Papillae

Figure 1.2.3
Papillae

Conjunctival (Non-Pigmented) Tumours

  1. Papilloma
  2. Conjunctival intraepithelial neoplasia (CIN)
  3. SCC
  4. Amelanotic melanoma
  5. Lymphoma
  6. Pterygium

Conjunctival (Pigmented) Lesions

  1. Conjunctival epithelial (racial) melanosis
  2. Congenita locular melanocytosis
  3. Conjunctival Naevus
  4. Primary Acquired Melanosis
  5. Melanoma
Figure 1.2.4 Conjunctival Squamous Cell Carcinoma

Figure 1.2.4
Conjunctival Squamous Cell Carcinoma

Figure 1.2.5 Conjunctival Epithelial Melanosis

Figure 1.2.5
Conjunctival Epithelial Melanosis

Conjunctivitis – Cicatrising

Burns

Chemical (alkali), Radiation

OCP

SJS/TEN

Inflammatory

Rosacea, Graft vs Host disease, Atopic Conjunctivitis

Iatrogenic

Drops (Pilocarpine)

Infections

Trachoma

"S"

Sjogrens (dry eye), Scleroderma, Sarcoidosis

+ Consider malignancy
Figure 1.2.6 Cicatrising Conjunctivitis

Figure 1.2.6
Cicatrising Conjunctivitis

Contact Lens Associated Red Eye (CLARE)

  1. Infective: Microbial keratitis
  2. Non-infective: If in doubt, treat as infective
    i. Hypoxia
    ii. Trauma
    iii. Sterile infiltrate (immune response)
    iv. Toxicity / allergy to solutions
    v. Giant papillary conjunctivitis

Cornea – Congenital Opacities

“STUMPED”

  • S clerocornea
  • T ears in DM = Haab striae (congenital glaucoma); Trauma (birth)
  • U lcer (HSV, Bacterial, Neurotrophic)
  • M etabolic (Mucopolysaccharidoses, Mucolipidosis, Tyrosinemia)
  • P eters, Posterior keratoconus
  • E ndothelial (CHED, CHSD)
  • D ermoid
Figure 1.2.7 Sclerocornea

Figure 1.2.7
Sclerocornea

Corneal Ectasia

  1. Keratoconus
  2. Pellucid marginal degeneration
  3. Keratoglobus
  4. Post-LASIK
Figure 1.2.8 Keratoglobus

Figure 1.2.8
Keratoglobus

Corneal Thinning – Peripheral

Local

Systemic

Non-Infective

Local

  1. Trauma
  2. Marginal keratitis
  3. Terrien (perforation is rare)
  4. Mooren (diagnosis of exclusion)
  5. Pellucid marginal degeneration
  6. Dellen
  7. Drugs (steroids, NSAID, LA)

Systemic

  1. Sjogren (Dry Eye)
  2. RA
  3. SLE
  4. Rosacea
  5. PAN
  6. Wegener Granulamotosis

Infective

Local

  1. HSV, HZO (neurotrophic cornea)
  2. Gonorrhoea, Chlamydia

Systemic

  1. TB
  2. Syphilis
  3. HCV
Figure 1.2.9 Peripheral Ulcerative Keratitis Secondary to Prior Beta Radiation

Figure 1.2.9
Peripheral Ulcerative Keratitis Secondary to Prior Beta Radiation

Ectopia Lentis

Inherited Without Systemic Associations

  1. Familial ectopia lentis (AD)
  2. Aniridia (AD)
  3. Ectopia lentis et pupillae (AR)

Inherited With Systemic Associations

  1. Marfan syndrome (AD)
  2. Homocystinuria (AR)
  3. Ehlers-Danlos 6 (AR)
  4. Weill-Marchesani syndrome (AD/AR)
  5. Stickler syndrome (AD)
  6. Sulphite oxidase deficiency (AR)
  7. Hyperlysinaemia (AR)

Non-Inherited

  1. Trauma
  2. Pseudoexfoliation
  3. Large eye (High myope, buphthalmos)
  4. Anterior uveal tumour
  5. Hypermature cataract
Figure 1.2.10 Ectopia Lentis Secondary to Weill-Marchesani Syndrome

Figure 1.2.10
Ectopia Lentis Secondary to Weill-Marchesani Syndrome

Ectropion Uveae

Congenital

  1. ICE
  2. NF-1

Acquired

  1. NVI
  2. Iris tumours
  3. Uveitis
  4. Epithelial ingrowth

Enlarged Corneal Nerves

“KAFMINA”

  • K eratoconus
  • A canthamoeba keratitis
  • F uchs endothelial dystrophy
  • M EN IIb
  • I chthyosis, Idiopathic
  • N F-1
  • A myloidosis
Figure 1.2.11 Enlarged Corneal Nerves

Figure 1.2.11
Enlarged Corneal Nerves

Eyelash (Madarosis)

Local

  1. Blepharitis
  2. Tumours (BCC, SCC, melanoma)
  3. Burns
  4. Radiotherapy
  5. Cryotherapy

Dermatological

  1. Alopecia
  2. Psoriasis

Systemic

  1. Hypothyroidism
  2. SLE
  3. Syphilis
  4. Leprosy

Removal

  1. Iatrogenic
  2. Trichotillomania

Eyelash (Poliosis)

  1. Blepharitis
  2. VKH, Sympathetic ophthalmia
  3. Vitiligo
  4. Tuberous sclerosis
  5. Marfan syndrome

Eyelash (Trichomegaly)

  1. Drugs (Latanoprost, phenytoin, cyclosporin)
  2. Malnutrition
  3. HIV
  4. Hypothyroidism
  5. Oculocutaneous albinism

Eyelid Lesions (Benign)

  1. Squamous cell papilloma
  2. Basal cell papilloma, Seborrheic keratosis
  3. Actinic keratosis
  4. Melanocytic naevus
  5. Keratoacanthoma
  6. Chalazion/hordeolum
Image

Figure 1.2.12
Large External Hordeolum

Image

Figure 1.2.13
Intradermal Naevus

Eyelid Lesions (Malignant)

  1. BCC
  2. SCC
  3. Sebaceous gland carcinoma
  4. Melanoma
  5. Kaposi sarcoma
  6. Merkel cell carcinoma
  7. Lymphoma
  8. Metastasis
Figure 1.2.14 Medial Canthal Basal Cell Carcinoma

Figure 1.2.14
Medial Canthal Basal Cell Carcinoma
These are often more deeply infiltrative than is obvious on inspection.

Figure 1.2.15 Melanoma of The Medial Lower Eyelid

Figure 1.2.15
Melanoma of The Medial Lower Eyelid

Heterochromia Iridis

Hypochromia

  1. Fuchs uveitis (lighter)
  2. Horner’s (congenital)
  3. Uveitis (e.g. HZO atrophy)
  4. JXG

Hyperchromia

  1. Latanoprost
  2. Oculodermal melanocytosis (naevus of Ota), Naevus (diffuse, including ICE), Melanoma
  3. PDS
  4. Ocular siderosis
  5. Sturge-Weber syndrome (rare)
Figure 1.2.16 Fuchs Heterochromic Iridocyclitis Heterochromia iridis is often the least prevalent sign in Fuchs Heterochromic Iridocyclitis

Figure 1.2.16
Fuchs Heterochromic Iridocyclitis
Heterochromia iridis is often the least prevalent sign in Fuchs Heterochromic Iridocyclitis

Heterochromia Iridis

Hypochromia

  1. Fuchs uveitis (lighter)
  2. Horner’s (congenital)
  3. Uveitis (e.g. HZO atrophy)
  4. JXG

Hyperchromia

  1. Latanoprost
  2. Oculodermal melanocytosis (naevus of Ota), Naevus (diffuse, including ICE), Melanoma
  3. PDS
  4. Ocular siderosis
  5. Sturge-Weber syndrome (rare)
Figure 1.2.16 Fuchs Heterochromic Iridocyclitis Heterochromia iridis is often the least prevalent sign in Fuchs Heterochromic Iridocyclitis

Figure 1.2.16
Fuchs Heterochromic Iridocyclitis
Heterochromia iridis is often the least prevalent sign in Fuchs Heterochromic Iridocyclitis

Iris Lesions

  1. Melanoma
  2. Naevus
  3. Cyst
  4. Metastasis (lung or breast): Often bilateral / multiple, amelanotic, variable size / colour
  5. Adenoma / Adenocarcinoma of the iris posterior pigment epithelium
  6. Leiomyoma
  7. Lisch nodules
  8. Juvenile xanthogranuloma
  9. Brushfield spots (Down syndrome)
  10. Foreign body
Figure 1.2.18 Diffuse Iris Naevus

Figure 1.2.18
Diffuse Iris Naevus

Figure 1.2.19 Iris Cyst

Figure 1.2.19
Iris Cyst

Iron Deposition Lines

  1. Hudson-Stahli (elderly)
  2. Fleischer (Keratoconus)
  3. Stocker (Pterygium)
  4. Ferry (Trabeculectomy)

Keratitis

  1. Bacterial
  2. Viral (herpetic)
  3. Fungal
  4. Protozoa (Acanthamoeba)
  5. Mycobacterial
Figure 1.2.20 Corneal Infiltrate with Epithelial Defect and Hypopyon

Figure 1.2.20
Corneal Infiltrate with Epithelial Defect and Hypopyon

Keratitis – Filamentary

  1. Dry eye
  2. Superior limbic keratitis
  3. Recurrent erosion syndrome
  4. Neurotrophic keratitis
  5. Contact lens, patching

Keratitis – Interstitial

Infectious

  1. Congenital syphilis
  2. HSV, VZV, EBV
  3. Chlamydia
  4. TB
  5. Leprosy
  6. Acanthamoeba

Non-infectious

  1. Cogan syndrome
  2. Sarcoidosis
  3. Behcet’s
  4. Gold

Leucocoria

“CARPET”

  • C oats, Cataract
  • A strocytoma
  • R etinoblastoma, ROP
  • P HPV
  • E ndophthalmitis
  • T oxocara
    + Incontinentia pigmenti
    + Intermediate uveitis
Figure 1.2.21 Leucocoria Secondary to Retinoblastoma

Figure 1.2.21
Leucocoria Secondary to Retinoblastoma

Limbal Stem Cell Failure

A. Genetic
  • Aniridia
  • Peters anomaly
  • Xeroderma pigmentosa
B. Acquired

“TAINT”

Traumatic

  1. Chemotherapy
  2. Radiation
  3. Contact lens overuse
  4. Limbal surgery

Autoimmune

  1. SJS
  2. OCP
  3. GvHD
  4. VKC

Infective

  1. Bacteria – trachoma
  2. Viral -HSV
  3. Fungal

Neoplastic

  1. Ocular surface tumours
  2. Pterygium/Pseudopterygium

Toxic

  1. Preservatives

Pterygium

  1. Pingueculum
  2. Pseudopterygium
  3. OSSN/CIN
  4. Pannus
Figure 1.2.22 Pterygium

Figure 1.2.22
Pterygium

Recurrent Epithelial Erosions

  1. Corneal trauma
    i. Minor trauma (especially organic), LASIK
  2. Corneal dystrophy
    i. Epithelial BM dystrophies – Reis buckler, Thiel Bentke, Meesmann
    ii. Stromal dystrophies
  3. Corneal degeneration
    i. Band, Salzmann
  4. Neurotrophic cornea
  5. Bullous keratopathy
  6. Ocular surface problems
  7. Lagophthalmos

Sclera – Blue

  1. P seudoxanthoma elasticum
  2. O steogenesis imperfecta
  3. E hlers Danlos
  4. M arfan syndrome

Vortex Keratopathy (Cornea Verticillata)

“FLATCAN”

  • F abry disease
    • X-linked recessive Lipid storage disorder (Lysosomal α-galactosidase-A deficiency)
    • Vortex keratopathy, cataract, conjunctival & retinal vessel tortuosity, cutaneous angiokeratomas, CVS, renal disease
  • L imbal stem cell failure
  • A miodarone
  • T amoxifen
  • C hloroquine/ Hydroxychloroquine
  • A tovaquone
  • N SAIDS

          

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