Autosomal dominant vitreoretinochoroidopathy with normal electrooculogram in a German family.

BACKGROUND

Autosomal dominant vitreoretinochoroidopathy (ADVIRC) is a rare disorder previously described in four families residing in the USA and one family residing in Germany. We report the clinical and unexpected electrophysiological findings in a sixth family, residing in Germany.

METHODS

An affected 23-year-old man, his 52-year-old affected mother and his 55-year-old unaffected father were examined by testing visual acuity, fluorescein angiography, visual fields, dark adaptation, electrooculography (EOG) and electroretinography (ERG).

RESULTS

The 23-year-old man showed a circumferential retinochoroidal dystrophy extending from the mid-periphery to the ora serrata. There was a sharp demarcation between affected and nonaffected retina. Peripheral to the damarcation, bone spicules and yellow-white deposits were present, and the retinal vessels were severely attenuated. In addition, vitreous opacities were present. The EOG light rise was normal. The ERG amplitudes were reduced to 35% of the normal in all recording conditions. The 52-year-old mother showed marked peripheral pigmentation, but no bone spicules, deposits or vitreous opacities. Her EOG and ERG recordings were normal.

CONCLUSIONS

Expression of ADVIRC can be very variable within the same family. A reduced EOG light rise, previously suggested as a characteristic sign for ADVIRC, is not a typical sign for all affected patients.