Ocular fundus

Question 1

Ocular fundus pathologies

Answer 1

Retinitis pigmentosa
Congenital stationary night blindness
Cone dystrophy
Albinism
Stargardt's disease
Best's dystrophy
Vitreoretinal dystrophies
Choroidal dystrophies

Question 2

Retinitis pigmentosa

Hereditary types

Answer 2

Variety of hereditary progressive degenerations of retina
Isolated vs part of syndrome
Isolated primary RP is sporadic, AR, AD, X-linked
Many genetic subtypes therefore wide range of presentations

Question 3

Retinitis pigmentosa definition

Answer 3

Most common retinal dystrophy

Rods > affected than cones

Question 4

Retinitis Pigmentosa differential diagnosis

Answer 4

Trauma (scar on retina)
Retinal detachment surgery/laser
Syphilis, rubella infection
Previous RA/RV occlusion
Drugs eg chlorpromazine

Question 5

Retinitis pigmentosa clinical features

Answer 5

Nyctalopia (PROGRESSIVE)
Decreased visual field
Ring scotoma (tunnel vision)
Decreased central vision (late)
Glare esp at night while driving
Bone spicule pigment clumping of midperiphery fundus
Attenuation of retinal arterioles
Waxy optic disc appearance
Cystoid macular oedema
Cataract

Question 6

Retinitis pigmentosa variation in pigment pattern

Answer 6

Central
Sectoral
Retinitis punctate albescens

Question 7

Retinitis pigmentosa management

Answer 7

Family history
Genetic counselling
Visual fields
Dark adaptation
ERG/EOG
Low vision aids
Social services referral
Rx of associated anomalies eg cataract surgery
Diamox for macular oedema 
Vitamin A palmitate and lutein to slow progression 
Gene/stem cell therapy 
Argus II epiretinal prosthesis system

Question 8

Retinitis pigmentosa systemic associations

Answer 8

Usher’s - deafness
Bassen-Korzweig -abetalipoproteinaemia
Refsum’s disease - impaired phytanic acid metabolism
Kearns Sayre - abnormal mitochondrial DNA
Leber’s congenital amaurosis - neurological + systemic abnormalities

Question 9

Congenital stationary night blindness description

Answer 9

Non-progressive night blindness
Normal appearing fundus
Abnormal dark adaptation on electro tests
Fundus albipunctatus

Question 10

Cone dystrophy

Answer 10

Progressive cone photoreceptor degeneration
Central vision loss and colour appreciation
Subtle macular changes
AD inheritance
Dx - electrophysiology NB

Question 11

Albinism description

Answer 11

Ocular vs oculocutanous

AR or X linked inheritance

Question 12

Albinism symptoms

Answer 12

Congenital nystagmus
Decreased VA
Strabismus
Hypopigmented macular structures
Macular hypoplasia
Optic chiasm anomalous
Pale skin + hair

Question 13

Albinism X linked mosaicism

Answer 13

MANY PHENOTYPES

Question 14

Stargardt’s disease

Answer 14

AKA fundus flavimaculatus
Flecked retina
Loss of central vision in adolescence
Atrophic macula
AR inheritance pattern
Dark choroid using fluorescin angiography
Electrophyiology normal especially early on

Question 15

Best’s macular dystrophy

Answer 15

Gradual yellow material accumulation at macula
Egg yolk early then scrambled egg later
AD inheritance
EOG ALWAYS abnormal

Question 16

Vitreoretinal dystrophies

Answer 16

Inherited retinoschisis

Stickler’s syndrome

Question 17

Inherited retinoschisis

Answer 17

Congenital vs acquired
X linked recessive
Cystic appearance to both fovea with radial striae extending over macula (bicycle spokes)

Question 18

Stickler’s syndrome

Answer 18

AD inheritance
Skeletal abnormalities
High myopia
Retinal detachment

Question 19

Choroidal dystrophies

Answer 19

Myopia
Choroidaemia
Gyrate atrophy

Question 20

Choroideraemia

Answer 20

X linked recessive
Progressive nyctalopia in childhood
Progressive VF loss > central loss
Progressive patchy chorioretinal atrophy
No tx

Question 21

Gyrate atrophy

Answer 21

Autosomal recessive inborn error ornithine metabolism
Childhood nyctalopia + progressive VF constriction
Scalloped patches of chorioretinal atrophy starting in periphery
Tx: pyridoxine (B6)