Figure 1.

Monozygotic twin sisters display stage I ADNIV at the age of 26 years. (A) Pedigree of female monozygotic twins who inherited the CAPN5 mutation (c.728G>T, pArg243Leu) from their father in the first ADNIV family. Black symbols represent clinically affected subjects. Open symbols represent unaffected subjects. (B) Fundus drawings of twin A recorded peripheral cystoid changes, a few sheathed vessels, and yellow spots. (C) Fundus drawings of twin B recorded peripheral pigment granularity, cystoid changes, and small areas suggesting incomplete vascularization. (D and E) Electroretinographic tracings from twins A and B show reduction of b-wave relative to the a-wave. Photopic electroretinogram (top panel) and scotopic electroretinogram (bottom panel).

Notes: The normal photopic b-wave amplitude using this system was 339 ± 85 microvolts and the normal scotopic b-wave was 450 ± 100 microvolts. The calibration mark (initial spike) before stimulus shows 100 microvolts.

Abbreviation: ADNIV, autosomal dominant neovascular inflammatory vitreoretinopathy.