{Reference Type}: Journal Article
{Title}: Early-onset Neovascular Inflammatory Vitreoretinopathy Due to Two de Novo CAPN5 Mutations in Chinese Patients: A Case Series.
{Author}: Xia FJ;Lyu J;Zhang X;Fei P;Zhao PQ;
{Journal}: Ocul Immunol Inflamm
{Volume}: 31
{Issue}: 9
{Year}: Nov 2023 11
{Factor}: 3.728
{DOI}: 10.1080/09273948.2022.2110901
{Abstract}: <B>UNASSIGNED: </B>To explore the clinical and molecular characteristics, diagnosis, and treatment of early-onset autosomal dominant neovascular inflammatory vitreoretinopathy (ADNIV) in Chinese patients.<BR><B>UNASSIGNED: </B>A retrospective, interventional case series was assembled from three ADNIV patients.<BR><B>UNASSIGNED: </B>The three ADNIV cases harbored de novo CAPN5 mutations (p.Arg289Trp and p.Leu73Val). The ages of onset ranged from 11 months to 2 years. All the cases presented with vitreous opacity and subretinal inflammatory exudations. During the postoperative follow-up, all the patients manifested with exaggerated postoperative inflammatory responses. An intravitreal Ozurdex injection could not effectively control ocular inflammation in ADNIV. Laser spots after panretinal photocoagulation were partly visible.<BR><B>UNASSIGNED: </B>Two de novo CAPN5 mutations (p.Leu73Val and p.Arg289Trp) could cause early-onset ADNIV. Panretinal photocoagulation during vitrectomy and an intravitreal Ozurdex injection could not significantly stop the progression of subretinal exudations and ocular inflammation in early-onset ADNIV patients.