Paed Retina

Question 1

Inherited retinal disorders

Answer 1

Clinically and genetically heterogenous

•Affecting the photoreceptors
•Rods
•Cones

•Stationary or progressive

•Generalised retinal or local macular dysfunction

•Rod- peripheral vs cone-central predominantly

Question 2

Congenital stationary night blindness

Answer 2

Difficulties navigating in dim/dark conditions

•Variable VA

•AD, AR or X linked

Question 3

CsnbElectrodiagnostics

Answer 3

Electrodiagnostics
•Visual evoked potential

•uses electrical signals to assess the health and function of nerves, muscles and brain. It involves recording electrical activity in the body to identify abnormalities. Place electron stickers on child and we can seize the rods and cones

•Measures electrical potential from the retina/optic nerve

Question 5

Achromatopsia

Answer 5

Affects cone photoreceptors in the due

1 in 30,000
•Normal looking fundus
Then can only sure black white and shades of grey with complete achromatopsoa
Autosomal rescessive and often hypermotropia
- visual acuity 6/36-6/60

Question 6

Leber’s Congenital Amaurosis

Answer 6

•affect a rods causing significant vision loss or blindness
Progressive rod cone dystrophy

•Roving eye movements
•Poor pupil response
•Very poor vision

•Undetectable ERG

In LCA, genetic mutations interfere with the normal development and function of the retina, including the rods. This means the rods may not be able to properly convert light into electrical signals that the brain can interpret as images

Question 7

What test can you use to look at lca

Answer 7

Oct

Question 8

Retinitis pigmentosa

Answer 8

Genetically heterogenous disorders

•Rod-cone dystrophy

•AD, AR, X linked

Usually isolated
•Hearing loss – Usher’s
•Cardiac disease – Kearns Sayre

•Progressive
•Peripheral visual field loss
•Night blindness
•Cataract
•Macula oedema

Most forms of retinitis pigmentosa affect the rod cells. This causes night blindness and poor peripheral vision (tunnel vision). When the cone cells are affected, central vision and color vision are affected

Question 9

Progressive cone dystrophy

Answer 9

• symptoms worsen over time
The cone cells are affected first and more severely than rod cells

Presents later than stationary disorders

•Photophobia ( light sensitivity)
•Nystagmus ( uncontrolled eye movements) 
•Progressive loss of vision

Question 10

Retinal pigment epithelium disorders

Answer 10

Helps maintain visual cycle

•Recycles photoreceptors

•Barrier and transport

Question 11

Stargardt’s

Answer 11

Affects the macular, the central part of the retina responsible for sharp central vision.

-Vision worsens overtime

Usually affects children in teens

Question 13

Bests

Answer 13

Inheritance: Autosomal dominant
Gene involved: Most commonly the BEST1 gene (also called VMD2), which affects the function of retinal pigment epithelium (RPE) cells.
Onset: Usually in childhood or adolescence, but may be asymptomatic until adulthood.
Symptoms
Often asymptomatic early on
Blurred or distorted central vision
Decreased visual acuity

Question 14

Ocular albinism

Answer 14

Reduced pigment in the eyes - (less melanin in parts of eye that require it. Melanin which is a pigment which gives colour to tissues and plays a critical role in eye development) leading to vision problems

It usually affects eyes only
X Linked recessive

Question 15

Choroidal Dystrophies

Answer 15

Choroidal dystrophies are a group of inherited retinal disorders that primarily affect the choroid, which is the layer of blood vessels and connective tissue between the retina and the sclera (the white of the eye). The choroid provides nutrients to the retina, and its dysfunction can lead to progressive vision loss. These disorders can affect both central and peripheral vision, depending on the specific type of choroidal dystrophy.

Question 17

Choroideraemia

Answer 17

Choroideremia is a rare, X-linked recessive inherited retinal disease that primarily affects males and leads to progressive vision loss. It is characterized by degeneration of the choroid, retina, and RPE (retinal pigment epithelium), causing significant impairment in both peripheral and night vision, and eventually central vision

Question 18

Coloboma

Answer 18

•“Gap” /defect in the formation of one or more structures in the eye

•Iris
•Retina
•Choroid
•Optic nerve

Question 19

Torch

Answer 19

T - Toxoplasmosis- a parasite we can get from eating raw food, you can also get it from cat faeces and it can also be passed down the placenta
•O – Other (Syphilis)
•R – Rubella
•C – CMV
•H - Herpes

Question 20

Optic Nerve

Answer 20

Optic nerve hypoplasia
•Underdeveloped optic nerves

•+ Septo-optic dysplasia
•Underdeveloped cerebral midline
•Pituitary/endocrine issues