ABSTRACT
Incontinentia pigmenti is a rare hereditary, dominant, X-linked disorder. It involves the skin, the teeth, the eyes and the central nervous system. The case we report is an infant girl aged 2 months. She had typical skin lesions associated with severe impairment of her left eye. We comment on the clinical, histological, genetic, and therapeutic characteristics of this rare disease. Ophthalmologic examination should be made early in order to diagnose ocular involvement at an early stage of the disease to provide for greater treatment possibilities.
Subject(s)
Incontinentia Pigmenti/diagnosis , Diagnosis, Differential , Female , Humans , Incontinentia Pigmenti/genetics , Incontinentia Pigmenti/therapy , InfantABSTRACT
Posterior microphthalmos with papillomacular fold is a rare disorder that involves both eyes without other ocular or systemic abnormalities. It is characterized by a short posterior segment with a normal anterior segment. We report the case of a 3.5-year-old boy with high hyperopia. The fundus examination showed bilateral papillomacular fold and ultrasonography confirmed the posterior microphthalmos. We comment on clinical characteristics, pathogenicity, and inheritance modes of this rare congenital disorder.
