Related Experiment Video
Updated: Sep 26, 2026
Optical Coherence Tomography: Imaging Mouse Retinal Ganglion Cells In Vivo
Published on: September 22, 2017
Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus
M D Mohamed1, N C Topping, H Jafri
1Department of Ophthalmology, St James's University Hospital, Beckett Street, Leeds LS7 7TF, UK. mionm@hotmail.com
Background:
Leber's congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci. The latter is a new locus which maps to 6q11-q16. The ocular findings and the evolution of the macula staphyloma are described in five members of a Pakistani family with consanguinity and a mutation in the LCA5 gene.
Methods:
13 family members including five affected individuals consented to DNA analysis and ocular examination including fundal photography.
Results:
Ocular abnormalities are described. The most striking feature was the progression of macula abnormalities in three brothers resulting in a colobomatous appearance in the eldest compared to only mild atrophy in the youngest. The phenotypic pattern of this mutation in this Pakistani family contrasts with the "Old Order River Brethren" who were of Swiss descent, in whom the mutation was first described.
Conclusion:
The evolution of a new phenotypic picture is presented to a mutation in LCA5.
