Incontinentia Pigmenti and Norrie Disease: Pathogenesis, Diagnosis, and Treatment

Abstract

Incontinentia pigmenti is a very rare X-linked dominant inherited disease characterized by skin lesions, retinal pathologies, central nervous system anomalies, and dental problems. Norrie disease is a very rare X-linked recessive inherited disease characterized by severe vitreoretinal dysplasia in both eyes at birth. In both diseases, patients can apply to the clinic with nystagmus, leukocoria, microphthalmia, and retinal detachment at an early age. In this review, Incontinentia pigmenti and Norrie disease, which are pediatric retinal vascular diseases, are investigated in detail.