Anophthalmia and microphthalmia in children: associated ocular, somatic and genetic morbidities and quality of life.

Purpose: To report ocular outcome, somatic co-morbidities, genetics, and quality of life in children born with anophthalmia (A) or microphthalmia (M).

Methods: Thirty-five children (19 boys) with A/M underwent ophthalmological examinations and a review of medical records. Parents of 12/22 cases completed the Pediatric Quality of Life Inventory (PedsQL).

[Important to evaluate children with visual impairment].

Congenital optic disc malformations can cause visual impairment. Diagnostics can be challenging during early infancy and childhood and visual prognosis difficult to predict; optical coherence tomography may be of value. The children often have coexisting comorbidities like pituitary hormone deficiency, neurodevelopmental disorders, and neurological impairments, and evaluation by a pediatrician should be performed.

Chorioretinal scars and visual deprivation are common in children with cochlear implants after congenital cytomegalovirus infection.

Aim: The aim of this study was to compare visual function and ocular characteristics in children with cochlear implants, due to severe hearing impairment caused by the congenital cytomegalovirus (CMV) infection, with control children fitted with cochlear implants due to connexin 26 mutations (Cx26), a genetic cause of hearing impairment.

Methods: We carried out ophthalmological assessments, including visual acuity, ocular alignment, Ocular Motor Score, biomicroscopy and fundus photography, on 26 children with congenital CMV (median age 8.3 years, range 1.