Retinal Disease Flashcards
Describe the anatomy of the retina
Composed of an outer pigmented layer in contact with the choroid
+
Inner sensory layer in contact with the vitreous fluid/humour
Centre - fovea
How should one describe the optic disc
Colour (pale pink)
contour (clear)
Cup (1/3rd disc diameter)
What changes on fundoscopy would you see in optic atrophy
Pale optic disc
What changes on fundoscopy would you see in papilloedema
Blurred optic disc
What changes on fundoscopy would you see in optic neuritis
Blurred optic disc
What changes on fundoscopy would you see in glaucoma
Widened/deeper optic cup
what is retinitis pigmentosa
Inherited degeneration of the macula:
- AR (most common)
- AD (best prognosis)
- X-linked (worst prognosis)
What is retinitis pigmentosa associated with
Friedrich’s ataxia
Kerans’Sayre syndrome
Refsum’s disease
Usher’s syndrome
Symptoms and signs of retinitis pigmentosa
Night blindness
Tunnel vision
Blind by mid 30s
Investigations for retinitis pigmentosa
Fundoscopy:
- Pale optic disc
- optic disc atrophy
- Macula-sparing peripheral retinal pigmentation
Define retinoblastoma
Malignant intraocular tumour of the retinal cells often seen in children
What is the aetiology for retinoblastoma
Mutation in both alleles of the tumour suppressor RB1 gene (double hit) on chromosome 13, other mutations are present for progression to clinical retinoblastoma
- familial RB (retinoblastoma) - child born with one RB mutation (hit 1) - Acquire second somatic mutation (hit 2) -bilateral disease + family history
Or
- Sporadic RB - Acquire one somatic mutation (hit 1) - Then second somatic mutation in same cell (hit 2) - unilateral disease
Associated with pineal tumours, osteosarcoma and rhabdomyosarcoma
What are the symptoms of retinoblastoma
Usually <3 yo
“chalky eye” (White haze, Asymmetrical (sporadic disease))
Pseudo-orbital cellulitis
Visual disturbance (bilateral or due to glaucoma)
Ocular pain
What are the signs of retinoblastoma on examination
Eyes
- Leukocoria (White pupillary reflex (red reflex not visible))
- Strabismus
- Pseudo-orbital cellulitis
What are the investigations for retinoblastoma
Bedside: fundoscopy: Chalky, white-grey retinal mass; may show retinal detachment with retinal vessels visible behind the lens; may show vitreous and/or subretinal seeding
Bloods: genetic testing: RB1 mutation
Other:
- sdOCT
- Ultrasound
- MRI head/orbit
- bone marrow aspiration (mets)
- LP (mets)
