Cerebral visual impairment (CVI) is a major cause of low vision in children due to
impairment in projection and/or interpretation of the visual input in the brain. Although …

Background To gain more insight into genetic causes of cerebral visual impairment (CVI) in
children and to compare ophthalmological findings between genetic and acquired forms of …

METHODS Patients Two unrelated multiplex families of French origin affected with
autosomal dominant optic atrophy were ascertained through the genetic consultation clinic …

Inherited retinal diseases (IRDs) are genetically and clinically heterogeneous disorders.
Together, they have an estimated incidence of 1: 2000 and thereby are the leading cause of …

Purpose In a large cohort of molecularly characterized inherited retinal disease (IRD)
families, we investigated proportions with disease attributable to causative variants in each …

Macular and cone/cone-rod dystrophies (MD/CCRD) demonstrate a broad genetic and
phenotypic heterogeneity, with retinal alterations solely or predominantly involving the …

The CCDD concept has focused attention on specific congenital disturbances of human
ocular motility and on the fact that these disorders are typically neurogenic in origin. The …

Additional neurological features have recently been described in seven families transmitting
pathogenic mutations in OPA1, the most common cause of autosomal dominant optic …

Medical advances in neonatology have improved the survival rate of premature infants, as
well as children who are born under difficult neurological conditions. As a result, the …

Abnormal ocular motility is a common clinical feature in congenital cranial dysinnervation
disorder (CCDD). To date, eight genes related to neuronal development have been …