Theme: Retinal detachment

Options:
A. Wardenburg syndrome
B. Norrie’s disease
C. Raymond syndrome
D. Stickler syndrome
E. ICE syndrome
F. Juvenile best disease
G. Morning Glory syndrome
H. Good syndrome
I. Fabry disease
J. Marfan’s syndrome
K. Rubenstein-Taybi Syndrome
L. Incontinentia pigmenti

Lead in statement: The following patients all presented with retinal detachment. Please choose the most appropriate diagnosis from the list above.

Stems:

1. A 20-year-old man presented to eye casualty concerned about a possible retinal detachment. He gives a family history of retinal detachments. There were multiple, radially oriented, lattice like lesions on both fundi but no retinal detachment.

2. A 25-year-old man with defect on chromosome 15q21. The sclerae are blue and the pupil does not dilate well for peripheral fundus examination.

3. A 27-year-old woman with tractional retinal detachment in the left-eye. Fundoscopy also revealed an enlarged and excavated optic disc. The retinal blood vessels appear to emerge from the periphery of the excavation in a radial pattern. Right fundus was normal.