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. 2003 Apr;87(4):473-5.
doi: 10.1136/bjo.87.4.473.

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus

M D Mohamed  1 , N C Topping, H Jafri, Y Raashed, M A McKibbin, C F Inglehearn
Affiliations

Progression of phenotype in Leber's congenital amaurosis with a mutation at the LCA5 locus

M D Mohamed et al. Br J Ophthalmol. 2003 Apr.

Abstract

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.

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Figures

Figure 1
Figure 1
Family tree of subjects examined.
Figure 2
Figure 2
Subject IV5 aged 21: minimal atrophy at macula. (A) Right fundus, (B) left fundus
Figure 3
Figure 3
Subject IV4 aged 25: atrophy at macula with pigment rim and clumps. (A) Right fundus, (B) left fundus
Figure 4
Figure 4
Subject IV3 aged 30: macula staphyloma. (A) Right fundus, (B) left fundus
See this image and copyright information in PMC

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