AUTOSOMAL-DOMINANT VITREORETINOCHOROIDOPATHY

Background: Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretina l atrophy and areas of hypopigmentation and hyperpigmentation between the equator and the ora serrata circumferentially in the ocular fundus . We describe the clinical features of a family, some members of which have this disorder. This is the first such report of a family outside the United States. Methods: We examined a family of 15 individuals, s even of whom were affected. Results: The main clinical findings were p eripheral pigmentary changes for 360 degrees, with a discrete boundary near the equator. In one patient, a partial vitreous detachment was f ound that was creating increasing traction to the macula and to the pe ripheral retina. Vitreous surgery successfully relieved the traction, and vision recovered from 20/100 to 20/25. One patient lost visual acu ity at the age of 10 years when complete rhegmatogenous detachment occ urred. In two women, a horizontal nystagmus was present showing typica l signs of a congenital nystagmus. Results of electrooculography demon strated a marked reduction of light rise and a clear reduced Arden rat io in one patient. Conclusions: Autosomal dominant vitreoretinochoroid opathy appears clinically as mainly a peripheral tapetoretinal disease ; patients with this disease have been reported in and outside the Uni ted States. In addition to the typical peripheral features, significan t vitreous traction maculopathy and congenital nystagmus associated wi th the disease were found.