2.3 Posterior 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

Angioid Streaks

“PEPSI-MAX”

  • P seudoxanthomaelasticum
  • E hlers-Danlos type 6
  • P aget’s, Acromegaly
  • S ickle cell, Thalassaemia
  • I diopathic (50% of angioid streaks)
  • M yopia
  • A cromegaly, Abetalipoproteinaemia
  • To X ic (Lead poisoning)
Figure 2.3.1 Angioid Streaks and Peau D’orange in Pseudoxanthoma Elasticum

Figure 2.3.1
Angioid Streaks and Peau D’orange in Pseudoxanthoma Elasticum

Bull’s Eye Maculopathy

“If you know your ABC’s then you’re a STAR!”

  • A MD, A nnular Dystrophy
  • B atten disease, B enign concentric annular macular dystrophy
  • C hloroquine / Hydroxychloroquine, C one dystrophy
  • STAR gardt
Figure 2.3.2 Bull’s Eye Maculopathy (Cone Dystrophy)

Figure 2.3.2
Bull’s Eye Maculopathy (Cone Dystrophy)

Choroidal Folds

Within Eye

  1. Idiopathic
  2. Hypermetropia
  3. Hypotony
  4. AMD
  5. Posterior scleritis
  6. Choroidal tumours
  7. Papilloedema / ↑ICP

Outside Eye

  1. Orbital tumours
  2. Scleral buckle
  3. IOID
  4. TED
Figure 2.3.3 Gross Choroidal Folds from Orbital Metastasis

Figure 2.3.3
Gross Choroidal Folds from Orbital Metastasis

Figure 2.3.4 Choroidal Folds on OCT Scan

Figure 2.3.4
Choroidal Folds on OCT Scan

Figure 2.3.5
Choroidal Folds Around an AMD CNV on Fundus Autofluorescence

Figure 2.3.5
Choroidal Folds Around an AMD CNV on Fundus Autofluorescence

Figure 2.3.6 Choroidal Folds Visible on Fluorescein Angiography

Figure 2.3.6
Choroidal Folds Visible on Fluorescein Angiography

Choroidal Tumour

Pigmented

Non-pigmented

Non-Malignant

Pigmented

Naevus
(NB: haemorrhage can masquerade as pigmentation)

Non-pigmented

  1. Amelanotic naevus
  2. Choroidal haemangioma
  3. Choroidal osteoma
  4. Granuloma (TB, Sarcoidosis

Malignant

Pigmented

Melanoma

Non-pigmented

  1. Amelanotic melanoma
  2. Metastasis
  3. Lymphoma (but may have leopard spotting)
Figure 2.3.7
Choroidal Naevus with Drusen

Figure 2.3.7
Choroidal Naevus with Drusen

Figure 2.3.8
Amelanotic Choroidal Naevus

Figure 2.3.8
Amelanotic Choroidal Naevus

Figure 2.3.9
Choroidal Melanoma

Figure 2.3.9
Choroidal Melanoma

Figure 2.3.10 Choroidal Hemangioma

Figure 2.3.10
Choroidal Hemangioma

Figure 2.3.11 Choroidal Metastasis

Figure 2.3.11
Choroidal Metastasis

Choroidal Neovascularisation

Degenerative

AMD / PCV, Myopia, Angioid streaks

Uveitis

Posterior uveitis (MFC / PIC, POHS)

Trauma

Choroidal rupture, heavy laser

Tumours

Choroidal nevi, osteoma

Idiopathic

CNV Sub-type:

  • Type 1: Sub-RPE, most AMD
    • Correlates with occult CNV on fluorescein angiogram
  • Type 2: Sub-retinal, most non-AMD
    • Correlates with classic CNV on fluorescein angiogram
  • Type 3: Intra-retinal (e.g. RAP)
Figure 2.3.12 Choroidal Neovascularization

Figure 2.3.12
Choroidal Neovascularization

Cotton Wool Spots

Vascular

Diabetes, HT, RVO,OIS, anaemia, hyperviscosity, radiation, emboli

Inflammatory

SLE

Infectious

HIV Retinopathy

Neoplastic

Leukaemia

Medication

Interferon retinopathy

Miscellaneous

Purtscher, High-altitude retinopathy, Idiopathic

Figure 2.3.13 Cotton Wool Spots in Purtscher’s Retinopathy

Figure 2.3.13
Cotton Wool Spots in Purtscher’s Retinopathy

Crystalline Retinopathy

“(A)BCD-MS”

  • (A lport syndrome- flecks, not true crystals)
  • **B ietti crystalline dystrophy (AR or X-linked)
  • Chronic retinal detachment**, Cystinosis / (Oxalosis), Calcified drusen
  • Drugs: Triamcinolone, Tamoxifen, Tanning agent (Canthaxanthine), Talc, Nitrofurantoin
  • M acular Telangiectasia type 2
  • S jogren-Larson syndrome
Figure 2.3.14 Crystalline Retinopathy (Bietti Crystalline Dystrophy)

Figure 2.3.14
Crystalline Retinopathy (Bietti Crystalline Dystrophy)

Cherry Red Spot

  1. Central Retinal Artery Occlusion
  2. Commotio retinae
  3. Metabolic storage disease (e.g. Tay Sach’s Disease)
  4. Drug Toxicity (Quinine, Dapsone, Carbon monoxide, Methanol toxicity)
Figure 2.3.15 Cherry Red Spot

Figure 2.3.15
Cherry Red Spot

Cystoid Macular Oedema

Vascular

Diabetes, HT, RVO, OIS, Macular Telangiectasia

Uveitis

Post-operative

AMD / CNV

Retinal Dystrophy

Retinitis Pigmentosa

Traction

ERM, VMT

Tumours

Choroidal haemangioma, Retinal capillary haemangioma

Systemic

Leukaemia

Drugs

Fingolimod

Figure 2.3.16 Cystoid Macular Oedema

Figure 2.3.16
Cystoid Macular Oedema

Deafness

Dystrophies

Usher’s, Stickler’s, LCA, Albinism, MIDD, Alport’s, Norrie’s disease

Congenital

Syphilis, Rubella, CMV, Wolfram syndrome (DIDMOAD), Cystinosis

Uveitic

VKH, Susac’s, Cogan’s

Diabetic Retinopathy

Differential Diagnosis:

  1. Hypertensive retinopathy
  2. Retinal vein occlusion
  3. Ocular ischaemic syndrome
  4. Radiation retinopathy
  5. Macular telangiectasia type 1
  6. Sickle cell retinopathy
Figure 2.3.17 Malignant Hypertensive Retinopathy

Figure 2.3.17
Malignant Hypertensive Retinopathy

Dragged Optic Disc

  1. ROP, FEVR, Norrie
  2. Toxocara
  3. Combined hamartoma of the retina and retinal pigment epithelium
  4. Incontinentia pigmenti
Figure 2.3.18 Dragged Optic Disc

Figure 2.3.18
Dragged Optic Disc

Epiretinal Membrane

  1. Idiopathic
  2. Uveitis
  3. Retinal break, RD (laser / cryotherapy, retinal surgery)
  4. Retinal vascular disease (diabetes, RVO)
  5. CNV
  6. Neurofibromatosis
Figure 2.3.19 Epiretinal Membrane

Figure 2.3.19
Epiretinal Membrane

Notice straightening of vessels towards the macula. This is often best seen with red-free light.

Figure 2.3.20 Epiretinal Membrane on Optical Coherence Tomography

Figure 2.3.20
Epiretinal Membrane on Optical Coherence Tomography

Normal Fundus with Decreased Vision (Masqueraders of Functional Vision Loss)

Younger patient:

  • Refractive error
  • Amblyopia
  • Keratoconus
  • Stargardt’s
  • MEWDS
  • Retrobulbar optic neuritis


Older patient:

Refractive

Amblyopia

Cornea

Keratoconus

Fundus

Stargardt’s, MEWDS, cone dystrophy, AZOOR, CAR / MAR, OIS (with featureless fundus)

Optic Nerve

Retrobulbar optic neuritis, PION, optic atrophy

Pituitary Apoplexy

Cortical

Cortical Visual Impairment (e.g. VVAD, CJD)

Functional Vision Loss

Pigmentary Retinopathy

Hereditary

Retinitis pigmentosa (rod-cone dystrophies)

Uveitic

CMV Retinitis, Rubella, Syphilis (old)

Vascular

RVO (old)

Chronic Epithelial Detachment

Stargardt’s, MEWDS, cone dystrophy, AZOOR, CAR / MAR, OIS (with featureless fundus)

Trauma

Commotio (old), Intense PRP

Drugs

Chloroquine / Phenothiazines

Malignancy

CAR / MAR

Figure 2.3.21 Pigmentary Retinopathy in Retinitis Pigmentosa

Figure 2.3.21
Pigmentary Retinopathy in Retinitis Pigmentosa

Retinal Artery Occlusions

Risk factors:

Age (older), males

Atherosclerosis

HT, Hypercholesterolaemia, diabetes, smoking, elderly

GCA

Commotio (old), Intense PRP

Peri-arteritis

SLE / Dermatomyositis, PAN / Wegener, Behçhet, Syphilis

Hyperviscosity

Polycythaemia, Multiple Myeloma, Waldenstrom Macroglobulinaemia

Thrombophilias

Drugs

Oral contraceptive pill

Retinal Migraine

Susac Syndrome

= BRAO, Deafness, Encephalopathy

Figure 2.3.22 Central Retinal Artery Occlusion

Figure 2.3.22
Central Retinal Artery Occlusion

Pale fundus, cherry-red spot, attenuated arterioles with “cattle-trucking” of blood column

Figure 2.3.23 Branch Retinal Artery Occlusion

Figure 2.3.23
Branch Retinal Artery Occlusion

Pale inferior fundus, attenuated arterioles

Retinal Detachment (Rhegmatogenous)

  1. Retinoschisis
  2. Choroidal detachment
  3. Uveal Effusion Syndrome
Figure 2.3.24
Bullous Macula-Off Rhegmatogenous Retinal Detachment

Figure 2.3.24
Bullous Macula-Off Rhegmatogenous Retinal Detachment

Figure 2.3.25 Rhegmatogenous Retinal Detachment with Proliferative Vitreoretinopathy and Subretinal Membrane

Figure 2.3.25
Rhegmatogenous Retinal Detachment with Proliferative Vitreoretinopathy and Subretinal Membrane

Figure 2.3.26 High-Water Marks from Previous Retinal Detachment

Figure 2.3.26
High-Water Marks from Previous Retinal Detachment

Figure 2.3.27 Retinoschisis

Figure 2.3.27
Retinoschisis

Figure 2.3.28 Uveal Effusion Syndrome

Figure 2.3.28
Uveal Effusion Syndrome

Retinal Detachment (Exudative)

Macular Disorders

Central serous chorioretinopathy, AMD

Retinal Vascular Disease

Malignant hypertension, Coat’s disease

Uveitis / Posterior Scleritis

VKH, Sympathetic ophthalmia

Intra-ocular Tumours

Melanoma, Metastasis, Choroidal haemangioma, Retinal capillary haemangioblastoma

Optic Nerve

Optic Disc Pit

Systemic

(Pre)eclampsia, Hypoproteinaemia

          

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