pathology Flashcards
LHON
- ATPase 6
- point mutations - NADH dehydrogenase
- Demyelination of papillomacular bundle
Retinitis pigmentosa
- In AD - Chr3q + Chr6p
- poor VF from periphera to posterior pole
- bone spicules
- Advanced: SINGLE layer of cells at fovea with STRIATED PRs
Vitellifom dystrophy
VMD2
- Best’s disease
- Lipofuscin at macula
- ATROPHY of PR layer in retina
Avellino Dystrophy
- Combined granular lattice dystrophy
- Chr5 - labrador keratophay
Down’s Syndrome
- keratoconus
- Iris SPINDLE cells
- Myopia
- RETINAL DETACHMENT
Presumed ocular histoplasmosis (POH)
- Scars + haemorrgagic detachment of macula
- Peripheral punched out chorioretinal atrophy
- Peipapillar chorioretinal scarring
Macular Dystrophy
- AR
- smudgy snowflake
- mucopolysaccharide deposited within keratocytes + endothelium
Lattice dystrophy
- 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
Meesman’s dystrophy
Bilateral
Loops of Basement membrane
Granular corneal dystrophy
AD
opaque granules
Non-birefriengent
Hyaline bodies
VHL
Chr3 RETINAL hemangiomata CEREBELLAR haemangioma Phaeochromocytoma Pancreatic cysts Renal ca
Stargardt’s disease
ABCA4 gene Chr1
Small yellow flecks of macula
Fuch’s endothelial dystrophy
Hassal Henle warts
Bilatera; diffuse oedema
Cloudy stroma
THICKENING of Descemet’s membrane
Systemic Ophthalmitis
Dalen-fuchs nodules
Epithelioid giant cells between RPE and bruch’s membrane
Pthisis bulbi
Choriocapillaris is SPARED
Diabetic Retinopathy
Multilayering + thickening BM
Pericyte degeneration
Vacuolation of iris PIGMENT epithelium
Cystinosis
Birefringent cystine crystals
Histology - need alcohol fixation
Homocystinuria
Risk of thromboembolic disease
Lens goes inferiorly and nasally
Histology - PAS on ciliary processes and pars plana
Sebaceous ca
Commoner in UPPER lid
pagetoid intraepithelial spread
Mimics blepharoconjunctivitis - masquerade syndrome
Spreads via LYMPH
SCC
well diff dysplastic PRICKLE CELLS with KERATIN NESTS
Uveal tract melanoma
Worse prognosis: Epitheliod, closed vascular loops, monosomy 3 + multiplication of chr8, anterior location
Mets to liver
Retinoblastoma
Flexner-Wintersteiner rosettes (lumen)
Homer-Wright rosettes (no lumen)
Risk of pineal tumour
Deep blue cells, little cytoplasm
Retinal Hamartomas
Calcospherites
Malignant non-follicular lymphoma
Uniform sheets of small lymphocytes with mitotic activity
Worse prognosis- orbital (»conjunctival)
Wegener’s granulomatosis
- necrosis of muscular layers (necrotising vasculitis)
- Fibrinoid necrosis
- Croneoscleral erosion
- Smudgy necoriss containing nuclear dust in orbital fat and fibrous tissue
- Palisaded macrophages with MULTINUCLEATE giant cells
Temporal arteritis
inflammatory cells in the media and intima
presence of giant cells (not necessary for diagnosis)
fragmented INTERNAL ELASTIC LAMINA
PAN
ophthalmic, CRA, retinal and choroidal blood vessels
SLE
Retinal microinfarcts
Rare: Choroidopathy
Hard exudates
plasma leakage into OPL
eoisinophilic masses with foamy macrophages
Flame haemorrhage
Nerve fibre layer
Dot haemorrhage
OPL
Blot haemorrhages
Between PR + RPE
POAG
-TIGR gene Chr 1
collagen and mucopolysachharides in cribriform layer and within outflow system
Cup more enlarged in vertical > horizontal
AMD
Histology: atrophy of PR over eoisinophilic mounds beneath RPE
Bruch’s membrane - thickened/calcified
Diskiform degernation - fibrous metaplasia in RPE
Lacrimal gland tumour
- Pleomorphic adenoma
- 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.
Rhabdomyosarcoma
orbital has better prognosis than extraorbital type MOST COMMON MALIGNANCY IN CHILDREN Sensitive to radiotherapy Most common: Embryonal Worst: Alveolar Best: pleomorphic
Sturge-Weber syndrome
not inherited naevus flammeus of the facial skin MENINGEAL HEMANGIOMA CHOROIDAL HEMANGIOMA. GLAUCOMA seocndary to vascular proliferation
Devic’s syndrome
optic neuritis
Tranverse myelitis
Anti aquaporin abs
Retinal dyalyses
infero-temporally
DRUSEN
Between RPE and Bruch’s membrane
PAS positive
NF-1 eye pathology
Lisch nodules Optic nerve GLIOMA Absence of the GREATER WING of the sphenoid Ectropion uvea Eyelid neurofibromas