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pathology Flashcards

1
Q

LHON

A
  • ATPase 6
  • point mutations - NADH dehydrogenase
  • Demyelination of papillomacular bundle
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2
Q

Retinitis pigmentosa

A
  • In AD - Chr3q + Chr6p
  • poor VF from periphera to posterior pole
  • bone spicules
  • Advanced: SINGLE layer of cells at fovea with STRIATED PRs
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3
Q

Vitellifom dystrophy

A

VMD2

  • Best’s disease
  • Lipofuscin at macula
  • ATROPHY of PR layer in retina
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4
Q

Avellino Dystrophy

A
  • Combined granular lattice dystrophy

- Chr5 - labrador keratophay

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5
Q

Down’s Syndrome

A
  • keratoconus
  • Iris SPINDLE cells
  • Myopia
  • RETINAL DETACHMENT
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6
Q

Presumed ocular histoplasmosis (POH)

A
  1. Scars + haemorrgagic detachment of macula
  2. Peripheral punched out chorioretinal atrophy
  3. Peipapillar chorioretinal scarring
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7
Q

Macular Dystrophy

A
  • AR
  • smudgy snowflake
  • mucopolysaccharide deposited within keratocytes + endothelium
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8
Q

Lattice dystrophy

A
  • AD
  • fine lines criss crossing stroma
  • Microscopy - Amyloid AA
    Type 1: Loaclised to cornea
    Type 2: widespread deposition of amyloid with dry, lax skin; cranial nerve palsies; abnormal ears; and mask-like facies
    a. overlying LIQUEFIED vitreous
    b. ATROPHY of the OUTER layer of the retina
    c. adherence of vitreous to the MARGIN of the lesion
    d. discontinuity of the ILM
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9
Q

Meesman’s dystrophy

A

Bilateral

Loops of Basement membrane

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10
Q

Granular corneal dystrophy

A

AD
opaque granules
Non-birefriengent
Hyaline bodies

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11
Q

VHL

A 
Chr3 
RETINAL hemangiomata
CEREBELLAR haemangioma 
Phaeochromocytoma
Pancreatic cysts 
Renal ca
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12
Q

Stargardt’s disease

A

ABCA4 gene Chr1

Small yellow flecks of macula

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13
Q

Fuch’s endothelial dystrophy

A

Hassal Henle warts
Bilatera; diffuse oedema
Cloudy stroma
THICKENING of Descemet’s membrane

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14
Q

Systemic Ophthalmitis

A

Dalen-fuchs nodules
Epithelioid giant cells between RPE and bruch’s membrane
Pthisis bulbi
Choriocapillaris is SPARED

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15
Q

Diabetic Retinopathy

A

Multilayering + thickening BM
Pericyte degeneration
Vacuolation of iris PIGMENT epithelium

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16
Q

Cystinosis

A

Birefringent cystine crystals

Histology - need alcohol fixation

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17
Q

Homocystinuria

A

Risk of thromboembolic disease
Lens goes inferiorly and nasally
Histology - PAS on ciliary processes and pars plana

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18
Q

Sebaceous ca

A

Commoner in UPPER lid
pagetoid intraepithelial spread
Mimics blepharoconjunctivitis - masquerade syndrome
Spreads via LYMPH

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19
Q

SCC

A

well diff dysplastic PRICKLE CELLS with KERATIN NESTS

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20
Q

Uveal tract melanoma

A

Worse prognosis: Epitheliod, closed vascular loops, monosomy 3 + multiplication of chr8, anterior location
Mets to liver

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21
Q

Retinoblastoma

A

Flexner-Wintersteiner rosettes (lumen)
Homer-Wright rosettes (no lumen)
Risk of pineal tumour
Deep blue cells, little cytoplasm

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22
Q

Retinal Hamartomas

A

Calcospherites

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23
Q

Malignant non-follicular lymphoma

A

Uniform sheets of small lymphocytes with mitotic activity

Worse prognosis- orbital (»conjunctival)

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24
Q

Wegener’s granulomatosis

A
  1. necrosis of muscular layers (necrotising vasculitis)
  2. Fibrinoid necrosis
  3. Croneoscleral erosion
  4. Smudgy necoriss containing nuclear dust in orbital fat and fibrous tissue
  5. Palisaded macrophages with MULTINUCLEATE giant cells
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25
Q

Temporal arteritis

A

inflammatory cells in the media and intima
presence of giant cells (not necessary for diagnosis)
fragmented INTERNAL ELASTIC LAMINA

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26
Q

PAN

A

ophthalmic, CRA, retinal and choroidal blood vessels

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27
Q

SLE

A

Retinal microinfarcts

Rare: Choroidopathy

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28
Q

Hard exudates

A

plasma leakage into OPL

eoisinophilic masses with foamy macrophages

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29
Q

Flame haemorrhage

A

Nerve fibre layer

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30
Q

Dot haemorrhage

A

OPL

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31
Q

Blot haemorrhages

A

Between PR + RPE

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32
Q

POAG

A

-TIGR gene Chr 1
collagen and mucopolysachharides in cribriform layer and within outflow system
Cup more enlarged in vertical > horizontal

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33
Q

AMD

A

Histology: atrophy of PR over eoisinophilic mounds beneath RPE
Bruch’s membrane - thickened/calcified
Diskiform degernation - fibrous metaplasia in RPE

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34
Q

Lacrimal gland tumour

A
  1. Pleomorphic adenoma
  2. ADENOID CYSTIC (most common) - painful, invades orbital nerves
    a. may arise from pleomorphic adenoma
    - ‘swiss-cheese’ characteristic histoloyg pattern
    b. is not encapsulated
    c. causes bony erosion
    d. causes pain from perineural invasion
    e. BASALOID cell is associated with the worst prognosis.
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35
Q

Rhabdomyosarcoma

A 
orbital has better prognosis than extraorbital type
MOST COMMON MALIGNANCY IN CHILDREN
Sensitive to radiotherapy
Most common: Embryonal 
Worst: Alveolar
Best: pleomorphic
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36
Q

Sturge-Weber syndrome

A 
not inherited 
naevus flammeus of the facial skin
MENINGEAL HEMANGIOMA
CHOROIDAL HEMANGIOMA. 
GLAUCOMA seocndary to vascular proliferation
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37
Q

Devic’s syndrome

A

optic neuritis
Tranverse myelitis
Anti aquaporin abs

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38
Q

Retinal dyalyses

A

infero-temporally

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39
Q

DRUSEN

A

Between RPE and Bruch’s membrane

PAS positive

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40
Q

NF-1 eye pathology

A 
Lisch nodules
Optic nerve GLIOMA
Absence of the GREATER WING of the sphenoid
Ectropion uvea
Eyelid neurofibromas
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41
Q

Age related changes of eye: Cornea

A

a. Hassal-Henle warts

b. Peripheral excrescences of the Descemet’s membrane

42
Q

Sarcoid

A

80% have ocular features
Snowbanking, vitreous snowballs - pars plana exudation
Candle wax phlebitis

43
Q

Tx of fungal keratitis

A

Yeasts: Amphotericin
Filamentous: Natamycin

44
Q

Eoisin stain

A

CYTOPLASMIC organeLLES, pink

45
Q

Haematoxylin

A

Nucleic acids

Blue

46
Q

Optic Nerve Hypoplasia

A

Most common developmental disc anomaly
segmental ONH: maternal diabetes mellitus
Septo-optic dysplasia aka de Morsier syndrome
pituitary gland abnormality

47
Q

Optic Nerve glioma Histology

A 
Juvenile form = BETTER prognosis
pilocytic (hair like) 
Fusiform appearance
Can lead to meningeal hyperplasia
Rosenthal fibres 
myxoid degeneration
48
Q

Hard exudates

A

opl opl opl Outer plexiform Layer

49
Q

Pathogenesis of AMD

A 
LOSS
Degeneration of RPE
Loss of photoreceptors
Thinning of OPL and choriocappilaris
GAIN
Accumulation of lipofuscin
Drusen formation
Thickening of Bruch's membrane
50
Q

Reiss {B}uckler

A

affects {B}OWMAN’S LAYER

fine reticular opacities in the superficial cornea in early adult life

51
Q

Gorlin Golzt

A

PTCH1 Chromosome 9
Autosomal dominant
Multiple BCC

52
Q

Posterior vitrous detachement

A

protective in diabetic retinopathy

53
Q

Coats Disease

A

Usually unilateral
Exudative RETINAL DETACHMENT - leakage of lipid-rich plasma into the retina and the subretinal space
Vascular abnormalities - the arteriolar and venular endothelium
NOT INHERITED

54
Q

CMV Retinitis complication

A

Retinal detachement

55
Q

Hypertensive choroidopathy

A

Siegrist streaks

56
Q

Choriostoma

A

Choristomas represent NORMAL tissue in an abnormal location, e.g. dermolipomas and dermoids.

57
Q

Hamartoma

A

Hamartomas represent abnormal growth of tissue in its normal location, e.g. haemangiomas and lymphangiomas.

58
Q

Malignant lymphoma of orbit

A

Most common: B cell lymphoma, non-hodgkin lymphoma

59
Q

Bitot’s spots

A

a. occur in patients with FAT malabsorption
b. are commonest on the TEMPORAL side of the conjunctiva
c. usually precede keratopathy
d. resolve with oral vitamin A

60
Q

Wilson’s disease

A

copper deposited in DESCEMET’S MEMBRANE

61
Q

[B]AND KERATOPATHY

A

CALCIUM is deposited in the BOWMAN’S

membrane

62
Q

Mittendorf dot

A

INFERONASAL aspect of POSTERIOR lens capsule

63
Q

Trisomy 13

A

a. optic nerve hypoplasia
b. microphthalmia
c. iris coloboma
d. persistent hyperplastic primary vitreous

64
Q

Watershed area in retina

65
Q

Soft drusen

A

removal of RPE from the Bruch membrane

66
Q

Basal laminar drusen

A

small drusen found in macula

67
Q

Reticular pseudodrusen

A

Found between IS/OS and RPE

68
Q

Lipofuscin segment

A

Outer photoreceptor segment

69
Q

Muille Torre Syndrome

A

multiple KERATOCANTHOMA/SEBACEOUS ca

Associated with internal malignancy - gastric ca

70
Q

Medulloepithelioma

A

From neuroectoderm

Affects non-pigmentated epithelium of ciliary body

71
Q

Touton’s giant cells

A

‘JELT’

  • Juvenile xanthogranuloma
  • Tuberous xanthoma
  • Liposarcoma
  • Erdheim-Chesters disease
72
Q

Orbital meningioma

A
  • Arises from intracranial extension
  • Assoc with NF-1
  • Psamomma bodies
73
Q

Wedl cells

A

Wedle bladder cells - chronic steroid use

74
Q

Glaucomflecken

A

Anterior lens epithelium surface

Acute glaucoma

75
Q

CMO

A

OPL affected - watershed layer

76
Q

Pterygium

A

Found nasally
invades cornea –> destruction of bowmans
Thinned conjunctival epithelium
Elastotic degenreation of stroma

77
Q

How do you differentiate pleomorphic adenoma from adenoid cystic carcinoma?

A

slow (pleo) vs rapid
painless (pleo) vs painful
CT scan: appear encapsulated (pleo) vs uncapsulated
bone erosion vs bone destruction)

78
Q

Dalen Fuch

A

Found between RPE and Bruch’s membrane

79
Q

Superotemporal … what happens?

A

Dermoid cyst

Retinal dialysis

80
Q

Treacher colins syndrome

A

Eyelid coloboma
Micropthalmos
Manidbular hypoplasia

81
Q

Hermansky pudlak and Chediak Higashi syndromes

A

OCULOCUTANEOUS ALBINISM
HP - platelet dysfunction
CH - leucocytic abnormalities

82
Q

Gaucher’s syndrome

A

AR
Reduced levels of glucocerbrosidase
Chromosome 1

83
Q

Septic Shock

A

Gram negative BACILLI expressing endotoxin

84
Q

Sampoeliesi’s line

A

pigmentation anterior to shwalbe’s line in retinal pigment dispersion syndrome

85
Q

Albright syndrome

A

Fibrous dysplasia
Skin pigmentation
Precocious puberty in females

86
Q

Meretoja syndrome

A

Systemic amyloid deposition
Type II lattice dystropphy
CN palsies

87
Q

Conditions associated with macular dystrophy

A

Hurler’s syndrome
Sheie’s syndrome
Morquio syndrome

88
Q

Causes of leukocoria?

A 
Cream pigment:
Cataract, Coats
Retinoblastoma, ROP
Endophthalmitis
Astrocytic hamartoma
Myelinated NFL
Persistent fetal vasculatur
Incontinentia pigmenti
Granuloma
Melanoma
FEVR (Familial EXUDATIVE vitreoretinopathy)
Norrie
Toxocariasis
89
Q

What does LUXOL BLUE stain?

90
Q

Masson trichome staining

A

Stains COLLAGEN blue or green

Stains HYALINE red

91
Q

What is the dose of exposure of ionising radiation that can cause cataract formation?

92
Q

Macular telangectasia

A

Type 1 - unilateral parafoveal telangectasia
Type 2 - Bilateral parafoveal telangectasia
Type 3 - type 2 + retinal capillary obliteration

93
Q

What is associated with keratoconus?

A 
Retinitis pigmentosa
Vernal keratoconjunctivitis
Retinopathy of prematurity
Down’s syndrome
Marfan’s syndrome
94
Q

Herpetic uveitis

A

Associated with high IOP

95
Q

NF-2

A

Merlin gene (22q12)

96
Q

Where is the deep retinal capillary plexus found?

97
Q

HIV retinopathy

A

CWS
Peri-vasculitis
Retinal haemorrhages
Thinner RNFL
Mild colour vision loss or contrast sensitivity
Mild visual field defects
Prognosis: Associated with increased mortality and bilateral visual impairment

98
Q

Haemorrhagic occlusive retinal vasculitis

A

Exposed to intraocular vancomycin
presents 8 days after second eye cataract surgery
Poor visual prognosis

99
Q

Pseudoexfoliation syndrome

A

Difficulty in cataract extraction:

  1. incomplete pupillary dilation
  2. abnormally weak lens zonules
  3. a brittle anterior capsule
100
Q

Difference between epidermoid and dermoid cysts?

A

Common features: keratinised and stratified squamous epithelium, eoisinophilic content
dermoid: structures from dermis present

Pathology (8 decks)

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