[MIM 300 216]

Sporadic eye disease. In some cases, this could be a minor form of Norrie disease. Aneurysmal dilatation, telangiectasias and exudate of the retinal vessels resulting in disorders of vision and retinal detachments. Generally unilateral. It is sometimes complicated by iridocyclitis, glaucoma or cataracts. Two-thirds of cases are diagnosed before ten years of age. Sex ratio: 10 boys to 1 girl.

Some cases are associated with microcephaly or kidney problems.

Treatment: laser photocoagulation, cryotherapy.

Anesthetic implications: 

ophthalmic surgery; monitor renal function.

Updated: October 2019