Fun eponymous ophthalmology things

Question 1

Gorlin-Goltz syndrome

Answer 1

Multiple basal cell carcinomas - onset mid-twenties
Palmar-plantar pits and jaw cysts

Mutations in PTCH1 gene

Epidem: 1 in 60,000, more in Caucasians, no sex preference

Question 2

Hermansky-Pudlak syndrome

Answer 2

Oculocutaneous albinism

Platelet dysfunction

Question 3

Chédiak-Higashi syndrome

Answer 3

Oculocutaneous albinism

Leucocytic abnormalities and infection susceptibility

Question 4

Treacher Collins syndrome

Answer 4

Eyelid colobomas, microphthalmos and mandibular hypoplasia

Question 5

A patient presents with loss of smell. On direct ophthalmoscopy, he has right optic disc atrophy and left papilloedema. What eponymous constellation of signs is this and what is it indicative of?

Answer 5

Foster Kennedy syndrome. The patient likely has a right frontal lobe lesion.

Question 6

What is Berlin’s oedema?

Answer 6

Commotio retinae - retinal oedema and whitening secondary to blunt trauma.

Question 7

What is Hutchinson’s triad?

Answer 7

Congenital syphilis - Hutchinson teeth, sensorineural deafness and interstitial keratitis