title: Leber's congenital amaurosis associated with high hyperopia in four sisters.
abstract: The authors describe a family with five daughters, of whom four are affected with Leber's congenital amaurosis and high hyperopia ranging between +5.5 and +9 diopters. In addition, the second daughter is a little short for her age, and shows a slight dyscrania with prominent frontal and occipital bones, hypoplasia of the nasal bone, and deep and narrow orbits leading to marked enophthalmos. The symptoms are typical of Leber's amaurosis. All children have nystagmus, night blindness, weak or absent pupillary reflexes. Visual fields are constricted or not measurable. The electroretinogram is extinguished, and hyperopia of the axial type was confirmed by ultrasound. Fundus findings are variable with small, pale and somewhat protruding papillae (pseudo-papillitis), narrow retinal vessels, diffuse fundus pigmentation of pepper-and-salt type and unusual yellow coloration of the macular region (diffuse atrophy). The inheritance of Leber's congenital amaurosis is autosomal recessive. The combined occurrence of amaurosis and hyperopia in four children in one family, while the fifth is unaffected and has no refractive error, furnishes a further evidence for the existence of a particular amaurosis-hyperopia subtype of Leber's disease.
authors.affiliation: University Eye Clinic, Geneva, Switzerland.
authors.forename: J
authors.initials: J
authors.lastname: Babel
authors.forename: D
authors.initials: D
authors.lastname: Klein
authors.forename: A
authors.initials: A
authors.lastname: Roth
mesh_terms: D001766:Blindness / Q000151:congenital*; D002648:Child; D002675:Child, Preschool; D004596:Electroretinography; D005260:Female; D015417:Hereditary Sensory and Motor Neuropathy / Q000235:genetics*; D006801:Humans; D006956:Hyperopia / Q000151:congenital*; D009755:Night Blindness / Q000235:genetics; D009759:Nystagmus, Pathologic / Q000235:genetics; D015418:Optic Atrophies, Hereditary / Q000235:genetics*; D010375:Pedigree; D014463:Ultrasonography; D014794:Visual Fields