Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. ... Leber congenital amaurosis comprises a group of early-onset childhood retinal dystrophies characterized by vision loss, nystagmus, and severe retinal dysfunction. Patients usually present at birth with profound vision loss and pendular nystagmus. Electroretinogram (ERG) responses are usually nonrecordable. Other clinical findings may include high hypermetropia, photodysphoria, oculodigital sign, keratoconus, cataracts, and a variable appearance to the fundus (summary by Chung and Traboulsi, 2009). For a general description and a discussion of genetic heterogeneity of LCA, see 204000.
Dryja et al. (2001) reported 3 patients with Leber congenital amaurosis. All experienced severe loss of central acuity, leading to nystagmus early in life, and had a degeneration of both rod and cone photoreceptors. One patient had nystagmus ... Dryja et al. (2001) reported 3 patients with Leber congenital amaurosis. All experienced severe loss of central acuity, leading to nystagmus early in life, and had a degeneration of both rod and cone photoreceptors. One patient had nystagmus and vision limited to light perception since early childhood. Her fundi at age 26 years had moderate vascular attenuation and no intraretinal bone-spicule pigmentary deposits. Another patient had poor vision since early childhood; at age 15 years, he had nystagmus and vision limited to light perception. He was hyperopic, with a spherical equivalent of +2.6 averaged between the 2 eyes. His fundi showed vascular attenuation and bone-spicule pigmentary deposits. Full-field, rod-plus-cone ERG responses were nondetectable.
Dryja et al. (2001) surveyed 57 unrelated patients who had Leber congenital amaurosis for mutations in RPGRIP1 and found recessive mutations involving both alleles in 3 (6%) patients. All 4 mutations (605446.0001-605446.0004) created premature termination codons and were ... Dryja et al. (2001) surveyed 57 unrelated patients who had Leber congenital amaurosis for mutations in RPGRIP1 and found recessive mutations involving both alleles in 3 (6%) patients. All 4 mutations (605446.0001-605446.0004) created premature termination codons and were likely to be null alleles. Gerber et al. (2001) performed direct sequencing of the 24 coding exons of the RPGRIP1 gene in 2 consanguineous families with Leber congenital amaurosis in whom a genomewide screen had detected homozygosity at the 14q11 chromosomal region. A homozygous missense mutation and a homozygous null mutation were identified in the 2 families, respectively. Among 142 unrelated LCA patients, Gerber et al. (2001) found RPGRIP1 mutations in 8 patients (5.6%) (see, e.g., 605446.0007 and 605446.0008).