Congenital corneal anaesthesia (CCA) is an uncommon condition difficult to diagnose. We report the case of a 20-month-old boy who presented with unilateral congenital corneal anaesthesia. The child was referred with a persistent corneal epithelial defect, unresponsive to symptomatic local treatment for over 10 months. Intensive topical treatment and strict corneal protection led to quick cornea...

NEUROLOGICAL DISORDERS mental retardation mental retardation OCULAR DISORDERS choroidoretinal defects choroidal coloboma, retinal coloboma, macular coloboma, corneal defects not including dystrophy microphthalmos (anteposterior globe diameter less than 20 mm, in adult), anophthalmos eye, motility defects strabismus convergent, esotropia, misalignment of the visual axes of the eyes iris anomalie...

BACKGROUND Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. CASE PRESENTATION a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic mac...

PURPOSE To report a new sporadic case of membrane frizzled-related protein gene (MFRP)-related syndrome with a 30-month follow-up, and to review the literature for genotype-phenotype correlation in MFRP mutations. METHODS A complete ophthalmological evaluation was performed at presentation and 30 months later, including best-corrected visual acuity test, slit lamp examination, fundoscopy, kin...

PURPOSE To study the characteristics of orbital cyst associated with microphthalmos in a group of Chinese patients, and to analyze the relationship between orbital cyst and orbital volume. DESIGN Cross-sectional comparative study. PARTICIPANTS 120 patients who were diagnosed as unilateral clinical blind microphthalmos, in which 20 patients had orbital cyst in the affected eye. METHOD Part...