The new inheritance of Leber Congenital Amaurosis with heterozygous AIPL1 gene mutation: A case report

Abstract

Background

Leber congenital amaurosis (LCA) is the earliest onset and most severe form of hereditary retinal dystrophy. Mutations in at least 25 different genes are associated with LCA and have critical roles for normal retinal function. AIPL1 gene is defined to associate with LCA4 which is one of the most clinically severe forms. The frequency of AIPL1 variants is 5.3 % among LCA patients in different populations worldwide. In this study, we report new inheritance of LCA with heterozygous of AIPL1 gene mutation.

Case report

We report a child boy with poor vision in both eyes, cycloplegic refractions, hyperopia in oculus dextrus and oculus sinister, natural eyelids, vertical nystagmus, salt pepper pigmentation retinopathy and night vision problems feature from a consanguineous marriage with a new inheritance of LCA with heterozygous AIPL1 gene mutation (c: 834G > A) by using whole exome sequencing.

Conclusion

Identification a new hereditary pattern of gene mutations involved in the development of LCA disease can play an important role in preventing the birth of children with this disease. This case report describes a new inheritance of LCA disease with heterozygous AIPL1 gene mutation (c: 834G > A, p. Trp278*) to form of autosomal dominant in child boy from Iran. Individuals who carry c: 834G > A (p. Trp278*) mutation of AIPL1 gene should be considered patients. Therefore, the necessary recommendations should be given before pregnancy by a genetic counselor to couples at risk of having a child with LCA disease.