Medical Retina: Case twoSpecial thanks to Mr. Jacob, Consultant Ophthalmologist and Miss Karen Jones, Chief Photographer, , West of England Eye Unit, Exeter for providing the picture.
This 34 year old man presented with a sudden onset visual disturbance in his right eye. He had similar episode one year ago which resolved spontaneously. There was no history of note and investigation including cardiovascular examination and blood tests were all normal.
a. What is the diagnosis and the natural history of this condition?
Hereditary retinal artery tortuosity.
It is characterized by extreme tortuosity of the retinal arteries but the retinal veins are normal. Patient usually presents with acute loss of vision from a macular haemorrhage which occurs either spontaneously or is associated with relatively minor trauma. The vision usually returns to normal once the haemorrhage resolves. The tortuosity increases with age and there are not associated systemic vascular abnormalities.
b. Is this an inherited condition?
The condition is an autosomal dominant condition. Examination of the family members help to support the diagnosis
c. What other conditions may give rise to this fundal appearance?
Tortuosity of the retinal artery can occur in the following conditions:
- ischaemic retinal syndromes for example diabetes mellitus, sickle cell disease and congenital heart disease
- haematologic disorders for example leukaemia, myeloma etc
- Fabry's disease