Ophthomology

We report two cases of atypical temporal arteritis. A 73-year-old woman with typical internal (diabetes, hypertony, hypercholesterinemia) and ophthomological (optic disc drusen) risk factors for N-AION reported with an acute unilateral decrease in vision. General symptoms, laboratory analysis and biopsy led to the diagnosis of temporal arteritis and iv steroids were administered. An 83-year-old male patient reported with a sudden unilateral decrease in vision, but did not complain about general symptoms. Laboratory analysis revealed no signs for temporal arteritis, therefore the patient was referred to his internal specialist for evaluation of internal risk factors for N-AION...

Waardenburg Syndrome is an autosomal dominantly inherited disorder with variable penetrance. It is a rare disorder with an estimated frequency of 1:20,000 in Kenya (East Africa) and 1:40,000, in the Netherlands presenting with or without deafness. The frequency with deafness is lower, estimated at 1:50,000 to 1:212,000. The major characteristic features are as follows, with reported incidences in parenthesis: 1) Dystopia canthorum (99%); 2) synophrys (17%-69%); 3) broad nasal root (78%); 4) depigmentation of hair, skin, or both (17%-58% with white forelock); 5) heterochromic or hypochromic irides (greater than 20%); 6) congenital deafness (9%-38%)...