ABSTRACT NUMBER - 18

RETINAL ARTERIOLAR TORTUOSITY, LENS ANOMALIES AND INTRACEREBRAL VASCULAR ABNORMALITIES: A COL4A1 PHENOTYPE?


Ben LaHood, Andrea Vincent

Meeting:  2010 RANZCO


SESSION INFORMATION

Date:      -

Session Title: POSTER ABSTRACTS

Session Time:      -

Background:
Retinal arterial tortuosity has been described existing in isolation, as in familial retinal arterial tortuosity, or syndromic as in wyburn mason syndrome. More recently mutations in COL4A1, a gene encoding the ?1 chain of type IV collagen has been found to produce a wide variety of physical man-ifestations including ocular findings of congenital cata-ract, retinal detachment and retinal arteriolar tortuosity.

Method:
We present the case of a 65 year old woman with ocular manifestations, neuroimaging findings and pedigree consistent with the COL4A1 phenotype

Results:
A 65 year old woman with deteriorating vision had bilateral knot-like retinal arteriolar tortuos-ity. She had cataract surgery for congenital cataracts in her 30s and subsequent right retinal detachment. Prior MRI investigation for a tonic-clonic seizure showed flow voids within the right cerebellopontine angle. Family history includes her mother and brother dying from ruptured cerebral aneurysms at the ages of 62 and 43 respectively. Her sister has bilateral subluxed lenses. Cerebral CT angiography showed multiple bilateral abnormal, tortuous ectatic arteries arising from the anteroinferior cerebellar arteries.

Conclusions:
This case describes the spectrum and hereditary nature of retinal arterial tortuosity with potential for intracerebral abnormalities, highlighting the necessity of neuroimaging in the investigation of patients with such ophthalmic manifestations. This phenotype is suggestive of that attributable to muta-tions of COL4A1. Type IV collagen is an essential com-ponent of all basement membranes. Mutations in COL4A1 can cause cerebrovascular abnormalities leading to an increased risk of intracerebral haemorrhage.