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pathology Flashcards

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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
Temporal arteritis
inflammatory cells in the media and intima presence of giant cells (not necessary for diagnosis) fragmented INTERNAL ELASTIC LAMINA
26
PAN
ophthalmic, CRA, retinal and choroidal blood vessels
27
SLE
Retinal microinfarcts | Rare: Choroidopathy
28
Hard exudates
plasma leakage into OPL | eoisinophilic masses with foamy macrophages
29
Flame haemorrhage
Nerve fibre layer
30
Dot haemorrhage
OPL
31
Blot haemorrhages
Between PR + RPE
32
POAG
-TIGR gene Chr 1 collagen and mucopolysachharides in cribriform layer and within outflow system Cup more enlarged in vertical > horizontal
33
AMD
Histology: atrophy of PR over eoisinophilic mounds beneath RPE Bruch's membrane - thickened/calcified Diskiform degernation - fibrous metaplasia in RPE
34
Lacrimal gland tumour
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.
35
Rhabdomyosarcoma
``` orbital has better prognosis than extraorbital type MOST COMMON MALIGNANCY IN CHILDREN Sensitive to radiotherapy Most common: Embryonal Worst: Alveolar Best: pleomorphic ```
36
Sturge-Weber syndrome
``` not inherited naevus flammeus of the facial skin MENINGEAL HEMANGIOMA CHOROIDAL HEMANGIOMA. GLAUCOMA seocndary to vascular proliferation ```
37
Devic's syndrome
optic neuritis Tranverse myelitis Anti aquaporin abs
38
Retinal dyalyses
infero-temporally
39
DRUSEN
Between RPE and Bruch's membrane | PAS positive
40
NF-1 eye pathology
``` Lisch nodules Optic nerve GLIOMA Absence of the GREATER WING of the sphenoid Ectropion uvea Eyelid neurofibromas ```
41
Age related changes of eye: Cornea
a. Hassal-Henle warts | b. Peripheral excrescences of the Descemet’s membrane
42
Sarcoid
80% have ocular features Snowbanking, vitreous snowballs - pars plana exudation Candle wax phlebitis
43
Tx of fungal keratitis
Yeasts: Amphotericin Filamentous: Natamycin
44
Eoisin stain
CYTOPLASMIC organeLLES, pink
45
Haematoxylin
Nucleic acids | Blue
46
Optic Nerve Hypoplasia
Most common developmental disc anomaly segmental ONH: maternal diabetes mellitus Septo-optic dysplasia aka de Morsier syndrome pituitary gland abnormality
47
Optic Nerve glioma Histology
``` Juvenile form = BETTER prognosis pilocytic (hair like) Fusiform appearance Can lead to meningeal hyperplasia Rosenthal fibres myxoid degeneration ```
48
Hard exudates
opl opl opl Outer plexiform Layer
49
Pathogenesis of AMD
``` LOSS Degeneration of RPE Loss of photoreceptors Thinning of OPL and choriocappilaris GAIN Accumulation of lipofuscin Drusen formation Thickening of Bruch's membrane ```
50
Reiss {B}uckler
affects {B}OWMAN'S LAYER | fine reticular opacities in the superficial cornea in early adult life
51
Gorlin Golzt
PTCH1 Chromosome 9 Autosomal dominant Multiple BCC
52
Posterior vitrous detachement
protective in diabetic retinopathy
53
Coats Disease
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
CMV Retinitis complication
Retinal detachement
55
Hypertensive choroidopathy
Siegrist streaks
56
Choriostoma
Choristomas represent NORMAL tissue in an abnormal location, e.g. dermolipomas and dermoids.
57
Hamartoma
Hamartomas represent abnormal growth of tissue in its normal location, e.g. haemangiomas and lymphangiomas.
58
Malignant lymphoma of orbit
Most common: B cell lymphoma, non-hodgkin lymphoma
59
Bitot's spots
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
Wilson's disease
copper deposited in DESCEMET'S MEMBRANE
61
[B]AND KERATOPATHY
CALCIUM is deposited in the BOWMAN'S | membrane
62
Mittendorf dot
INFERONASAL aspect of POSTERIOR lens capsule
63
Trisomy 13
a. optic nerve hypoplasia b. microphthalmia c. iris coloboma d. persistent hyperplastic primary vitreous
64
Watershed area in retina
OPL
65
Soft drusen
removal of RPE from the Bruch membrane
66
Basal laminar drusen
small drusen found in macula
67
Reticular pseudodrusen
Found between IS/OS and RPE
68
Lipofuscin segment
Outer photoreceptor segment
69
Muille Torre Syndrome
multiple KERATOCANTHOMA/SEBACEOUS ca | Associated with internal malignancy - gastric ca
70
Medulloepithelioma
From neuroectoderm | Affects non-pigmentated epithelium of ciliary body
71
Touton's giant cells
'JELT' - Juvenile xanthogranuloma - Tuberous xanthoma - Liposarcoma - Erdheim-Chesters disease
72
Orbital meningioma
- Arises from intracranial extension - Assoc with NF-1 - Psamomma bodies
73
Wedl cells
Wedle bladder cells - chronic steroid use
74
Glaucomflecken
Anterior lens epithelium surface | Acute glaucoma
75
CMO
OPL affected - watershed layer
76
Pterygium
Found nasally invades cornea --> destruction of bowmans Thinned conjunctival epithelium Elastotic degenreation of stroma
77
How do you differentiate pleomorphic adenoma from adenoid cystic carcinoma?
slow (pleo) vs rapid painless (pleo) vs painful CT scan: appear encapsulated (pleo) vs uncapsulated bone erosion vs bone destruction)
78
Dalen Fuch
Found between RPE and Bruch's membrane
79
Superotemporal ... what happens?
Dermoid cyst | Retinal dialysis
80
Treacher colins syndrome
Eyelid coloboma Micropthalmos Manidbular hypoplasia
81
Hermansky pudlak and Chediak Higashi syndromes
OCULOCUTANEOUS ALBINISM HP - platelet dysfunction CH - leucocytic abnormalities
82
Gaucher's syndrome
AR Reduced levels of glucocerbrosidase Chromosome 1
83
Septic Shock
Gram negative BACILLI expressing endotoxin
84
Sampoeliesi's line
pigmentation anterior to shwalbe's line in retinal pigment dispersion syndrome
85
Albright syndrome
Fibrous dysplasia Skin pigmentation Precocious puberty in females
86
Meretoja syndrome
Systemic amyloid deposition Type II lattice dystropphy CN palsies
87
Conditions associated with macular dystrophy
Hurler's syndrome Sheie's syndrome Morquio syndrome
88
Causes of leukocoria?
``` 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
What does LUXOL BLUE stain?
myelin
90
Masson trichome staining
Stains COLLAGEN blue or green | Stains HYALINE red
91
What is the dose of exposure of ionising radiation that can cause cataract formation?
2gy
92
Macular telangectasia
Type 1 - unilateral parafoveal telangectasia Type 2 - Bilateral parafoveal telangectasia Type 3 - type 2 + retinal capillary obliteration
93
What is associated with keratoconus?
``` Retinitis pigmentosa Vernal keratoconjunctivitis Retinopathy of prematurity Down’s syndrome Marfan’s syndrome ```
94
Herpetic uveitis
Associated with high IOP
95
NF-2
Merlin gene (22q12)
96
Where is the deep retinal capillary plexus found?
INL/IPL
97
HIV retinopathy
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
Haemorrhagic occlusive retinal vasculitis
Exposed to intraocular vancomycin presents 8 days after second eye cataract surgery Poor visual prognosis
99
Pseudoexfoliation syndrome
Difficulty in cataract extraction: 1. incomplete pupillary dilation 2. abnormally weak lens zonules 3. a brittle anterior capsule
100
Difference between epidermoid and dermoid cysts?
Common features: keratinised and stratified squamous epithelium, eoisinophilic content dermoid: structures from dermis present

Pathology (8 decks)

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