Neuronal Ceroid Lipofuscinosis

Question 1

What materials accumulate in the neurons (and other cells) in CLN3?

Answer 1

Ceroid

Liposuction

Question 2

Where (what chromosome) is gene for CLN3?

Answer 2

CLN3 gene is on chromosome 16

Question 3

What does CLN3 gene code for?

Answer 3

A lysosomal transmembrane protein of unknown function

Question 4

Ocular findings in ceroid lipofuscinosis?

Answer 4

Loss of cells in RPE, photoreceptors,inner and outer plexiform layers
Degeneration starts in macula and proceeds to periphery
Loss of foveal reflex, Bulls-eye maculopathy, macular orange pigment deposition, peripheral bone spicules

Question 5

Differential diagnosis of CLN3?

Answer 5

RP, Stargardt’s, rod-cone dystrophy

Question 6

Treatment options for CLN3?

Answer 6

No cure

Investigative: mycophenolate mofetil may decrease autoantibodies

Question 7

Ocular presentation of CLN3?

Answer 7

Autosomal recessive
relatively rapid vision loss and neurological decline
Children under age 10