Autosomal dominant vitreoretinochoroidopathy

Area of Science:

• Ophthalmology
• Medical Genetics

Background:

• Autosomal dominant vitreoretinochoroidopathy is a rare disorder.
• Characterized by peripheral chorioretinal atrophy and pigmentary changes in the ocular fundus.

Observation:

• A family study identified seven affected individuals among 15 members.
• Clinical features included 360-degree peripheral pigmentary changes and vitreous traction maculopathy.
• Congenital nystagmus was observed in two female patients.

Findings:

• Peripheral pigmentary changes with a distinct equatorial boundary were noted.
• Vitreous surgery successfully treated traction maculopathy, restoring vision.
• One patient experienced vision loss due to rhegmatogenous retinal detachment.

Implications:

• This condition manifests primarily as a peripheral tapetoretinal disease.
• Vitreous traction maculopathy and congenital nystagmus are significant associated findings.
• The study expands the geographic understanding of the disease beyond the United States.