biostudies-literatureMiyamichi DMEXT | Japan Society for the Promotion of ScienceJapan Agency for Medical Research and Development32https://www.ebi.ac.uk/biostudies/studies/S-EPMC6804879biostudies-literatureUnknown6This study aimed to evaluate retinal structure in the early stage of Leber's congenital amaurosis (LCA) caused by <i>RPGRIP1</i> mutations. Four patients from two families were included. Case 1 was a 13-year-old girl, cases 2 and 3 were 7-year-old monozygotic twin brothers of case 1, and case 4 was a 17-year-old boy. Comprehensive ophthalmic examinations were performed, including visual acuity measurements, perimetry, electroretinography (ERG), and optical coherence tomography (OCT). To identify potential pathogenic mutations, 74 genes known to cause retinitis pigmentosa or LCA were assessed using targeted next-generation sequencing. OCT showed photoreceptor outer nuclear layer (ONL) thinning in all patients. The lamellar structure was retained in all patients, whereas the ellipsoid zone was extinguished in cases 1, 2, and 3. In case 4, the ellipsoid zone was maintained at 9 years of age but became blurred at 17 years of age. In case 1, OCT indicated slight photoreceptor ONL thinning during the period between 7 and 11 years of age. Mutation analysis revealed <i>RPGRIP1</i> mutations as the cause for autosomal recessive LCA in all patients. Photoreceptor ONL on OCT is relatively well preserved in the early stage of LCA caused by <i>RPGRIP1</i> mutations.Human genome variationRetinal structure in Leber's congenital amaurosis caused by <i>RPGRIP1</i> mutations.PMC680487916ek0109151h000216K1128417K11447Hotta YMiyamichi DAzuma NKurata KSato MHosono KNishina SYokoi TfalseRetinal structure in Leber's congenital amaurosis caused by <i>RPGRIP1</i> mutations.This study aimed to evaluate retinal structure in the early stage of Leber's congenital amaurosis (LCA) caused by <i>RPGRIP1</i> mutations. Four patients from two families were included. Case 1 was a 13-year-old girl, cases 2 and 3 were 7-year-old monozygotic twin brothers of case 1, and case 4 was a 17-year-old boy. Comprehensive ophthalmic examinations were performed, including visual acuity measurements, perimetry, electroretinography (ERG), and optical coherence tomography (OCT). To identify potential pathogenic mutations, 74 genes known to cause retinitis pigmentosa or LCA were assessed using targeted next-generation sequencing. OCT showed photoreceptor outer nuclear layer (ONL) thinning in all patients. The lamellar structure was retained in all patients, whereas the ellipsoid zone was extinguished in cases 1, 2, and 3. In case 4, the ellipsoid zone was maintained at 9 years of age but became blurred at 17 years of age. In case 1, OCT indicated slight photoreceptor ONL thinning during the period between 7 and 11 years of age. Mutation analysis revealed <i>RPGRIP1</i> mutations as the cause for autosomal recessive LCA in all patients. Photoreceptor ONL on OCT is relatively well preserved in the early stage of LCA caused by <i>RPGRIP1</i> mutations.2019-01-01T00:00:00Z20192026-05-04T17:20:03.922Z2019-11-07T08:05:25ZS-EPMC68048793166697310.1038/s41439-019-0064-8