Dataset Information

Peripapillary sparing in RDH12-associated Leber congenital amaurosis.

ABSTRACT: BACKGROUND:Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease. MATERIALS AND METHODS:We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12. RESULTS:Fundus autofluorescence imaging revealed a general loss of retinal pigment epithelium across the macula except for the peripapillary region in both eyes of all patients. Spectral domain-optical coherence tomography confirmed relative preservation in this area along with retinal thinning and excavation throughout the rest of the macula. LCA was diagnosed based on clinical exam and retinal imaging, and subsequently confirmed with genetic testing. CONCLUSIONS:Peripapillary sparing is a novel phenotypic feature of RDH12-associated LCA.

SUBMITTER: Garg A

PROVIDER: S-EPMC6314194 | biostudies-literature | 2017 Dec

REPOSITORIES: biostudies-literature

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Peripapillary sparing in RDH12-associated Leber congenital amaurosis.

Garg Aakriti A Lee Winston W Sengillo Jesse D JD Allikmets Rando R Garg Kartik K Tsang Stephen H SH

Ophthalmic genetics 20170517 6

<h4>Background</h4>Peripapillary sparing is a characteristic that is traditionally described as pathognomonic for Stargardt disease.<h4>Materials and methods</h4>We present a multimodal assessment of four Leber congenital amaurosis (LCA) cases with congenital macular atrophy and severely attenuated electroretinogram findings caused by bilallelic mutations in RDH12.<h4>Results</h4>Fundus autofluorescence imaging revealed a general loss of retinal pigment epithelium across the macula except for th ...[more]

PMID: 28513254

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Project description:PurposeThe gene encoding nicotinamide nucleotide adenylyltransferase 1 (NMNAT1) was recently found to be mutated in a subset of patients with Leber congenital amaurosis (LCA) with macular atrophy. The aim of this study was to determine the occurrence and frequency of NMNAT1 mutations and associated phenotypes in different types of inherited retinal dystrophies.MethodsDNA samples of 161 patients with LCA without genetic diagnosis were analyzed for variants in NMNAT1 using Sanger sequencing. Variants in exon 5 of NMNAT1, which harbors the majority of the previously identified mutations, were screened in 532 additional patients with retinal dystrophies. This cohort encompassed 108 persons with isolated or autosomal recessive cone-rod dystrophy (CRD), 271 with isolated or autosomal recessive retinitis pigmentosa (RP), and 49 with autosomal dominant RP, as well as 104 persons with LCA in whom the causative mutation was previously identified.ResultsCompound heterozygous alterations were found in six patients with LCA and in one person with early-onset RP. All except one carried the common p.E257K variant on one allele. Macular atrophy was absent in one patient, who carried this variant in combination with a truncating mutation on the other allele. The p.E257K alteration was also found in a heterozygous state in five individuals with LCA and one with RP while no mutation was detected on the other allele. Two individuals with LCA carried other NMNAT1 variants in a heterozygous state, whereas no NMNAT1 variants in exon 5 were identified in individuals with CRD. The p.E257K variant was found to be enriched in a heterozygous state in individuals with LCA (0.94%) compared to Caucasian controls (0.18%), although the difference was statistically insignificant (p=0.12).ConclusionsAlthough macular atrophy can occur in LCA and CRD, no NMNAT1 mutations were found in the latter cohort. NMNAT1 variants were also not found in a large group of patients with sporadic or autosomal recessive RP. The enrichment of p.E257K in a heterozygous state in patients with LCA versus controls suggests that this allele could act as a modifier in other genetic subtypes of LCA.

Dataset Information

Peripapillary sparing in RDH12-associated Leber congenital amaurosis.

Publications

Peripapillary sparing in RDH12-associated Leber congenital amaurosis.

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