Autosomal dominant vitreoretinochoroidopathy

Abstract

Background: Autosomal dominant vitreoretinochoroidopathy recently has been described as a condition characterized by peripheral chorioretinal 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, seven of whom were affected.

Results: The main clinical findings were peripheral pigmentary changes for 360 degrees, with a discrete boundary near the equator. In one patient, a partial vitreous detachment was found that was creating increasing traction to the macula and to the peripheral retina. Vitreous surgery successfully relieved the traction, and vision recovered from 20/100 to 20/25. One patient lost visual acuity at the age of 10 years when complete rhegmatogenous detachment occurred. In two women, a horizontal nystagmus was present showing typical signs of a congenital nystagmus. Results of electrooculography demonstrated a marked reduction of light rise and a clear reduced Arden ratio in one patient.

Conclusions: Autosomal dominant vitreoretinochoroidopathy appears clinically as mainly a peripheral tapetoretinal disease; patients with this disease have been reported in and outside the United States. In addition to the typical peripheral features, significant vitreous traction maculopathy and congenital nystagmus associated with the disease were found.