Ocular manifestation of systemic disease

Question 1

NF-1

Answer 1

Lisch nodules (iris hamartoma) - pigmented collection of dendritic melanocytes affecting the iris

Question 2

Down syndrome

Answer 2

Brushfield spots:
Small, white or greyish/brown spots on the periphery of the iris in the human eye due to aggregation of connective tissue

Question 3

Thyroid eye disease

a) Common features
b) Most severe complication and treatment

Answer 3

a) Proptosis, grittiness, swelling around the eyes
May cause restricted eye movements and loss of VA

b) Dysthyroid optic neuropathy
- Presents with worsening VA, especially colour vision
- unlike MS optic neuritis, doesn’t tend to have painful eye movements
- Rx: urgent steroids