Amaurosis Congenita (Leber)

Abstract

van den Bosch the Hague (Will be published in extenso in Archives of Ophthalmology.) In spite of recent publications by Waardenburg, Alström and Olson, Franceschetti, and Henkes and Schappert, this pathological picture, which was first described by Leber, is seldom recognized, it is, however, by no means infrequent. The investigation into the causes of blindness in the Netherlands concerned 227 cases of congenital amaurosis, viz. 114 adult blind patients and 113 children of whom 109 were blind and 4 were partially sighted. Since the Netherlands have approximately 6000 blind persons, 600 of whom are children, these figures mean that the affection is the cause of blindness in 3,8% of all blind persons and in 18% of the blind children. This affection was erroneously diagnosed by the consulting ophthalmologists as: tapjetoretinal degeneration, optic nerve atrophy, (congenital syphilitic) retinochoroiditis and congenital amblyopia (possibly of central origin). The following symptoms are obligatory: Congenital blindness or very poor central vision. In the majority of cases: only very slight fundus changes in comparison with the bad visual function. Absent or nearly absent electroretinogram. Recessive hereditary occurrence. Facultative characteristics are: Nystagmus-relatively often. Photophobia-much rarer. Cataract. Keratoglobus or keratoconus. Schappert-Kimmijser‚Henkes and van den Bosch 421The two latter symptoms are absent at birth. The affection is described in more detail with the aid of case histories, a characteristic fundus picture and electroretinograms and a first pedigree of 13 cases originating from the Isle of Urk. Discussion. Zeeman congratulated Mrs. Schappert on the collecting of such instructive experience regarding this affection, which, on account of apparent infrequency and poverty of symptoms offers great difficulties to the ophthalmologist, but which had been shown to be one of the main causes of blindness in children. The affection deserves our keen attention even after the valuable monograph by Alström. This latter publication seems unsurpassable as a genetic study. As

The genetic profile of Leber congenital amaurosis in an Australian cohort

“…The clinical hallmark of Leber congenital amaurosis (LCA) is the onset of severe visual impairment at or soon after birth. These forms of infantile blindness represent the most severe inherited retinal dystrophies (IRDs) without major systemic features (den Hollander et al 2008), and are characterized by severe visual handicap, nystagmus, sluggish pupils, and a severely subnormal or nondetectable electroretinogram (ERG) (Schappert-Kimmijser et al 1959). LCA represents~5% of all IRDs (Schappert-Kimmijser et al 1959), with an estimated population frequency of between one in 30,000 (Koenekoop 2004) and one in 81,000 (Stone 2007) unrelated individuals.…”

Leber Congenital Amaurosis - Differential Diagnosis, Ophthalmological and Neuroradiological Report of 18 Patients

“…Later in childhood c h c a l heterogeneity develops and a variety of fundus abnormalities may be seen. These commonly include optic atrophy, retinal arteriolar attenuation, and a variety of pigmentary changes such as peripheral chorioretinal atrophy and mottling of the retinal pigmentation (21). In our study the majority of babies had a normal fundus at presentation.…”

“…The visual acuity in LCA is usually markedly reduced to counting fingers or worse, although infiequently it may be 6/36 to 6/60 during early childhood. By teenage years most patients with LCA can only detect hand movements or bright lights (21). With a follow-up of five years 11 of our patients with LCA showed no light perception.…”

Two sib cases of Leber congenital amaurosis with cerebellar vermis hypoplasia and multiple systemic anomalies

“…However, the finding that one of these three patients had two siblings who were also affected with LCA but without cerebellar vermis abnormality suggests variable expression. Neuropsychiatric dysfunction and renal and skeletal abnormalities also have been reported as associated manifestations for LCA [Schappert-Kimmijiser et al, 1959;Senior et al, 1961;Vaizey et al, 1977;Schroeder et al, 1987]. Of 21 LCA patients reported by Vaizey et al [1977], two had renal anomalies (one with a single kidney and the other with horseshoe kidney), 11 had moderate to severe mental retardation, and some others had central nervous system malformations.…”