Early onset retinal dystrophy due to mutations in LRAT: molecular analysis and detailed phenotypic study

Investigative Ophthalmology & Visual Science
Arundhati Dev BormanAnthony T Moore

Abstract

To report novel variants and characterize the phenotype associated with the autosomal recessive retinal dystrophy caused by mutations in the lecithin retinol acyltransferase (LRAT) gene. A total of 149 patients with Leber's congenital amaurosis (LCA) or early onset retinal dystrophy were screened for mutations in LCA-associated genes using an arrayed-primer extension (APEX) genotyping microarray (Asper Ophthalmics). LRAT sequencing was subsequently performed in this 148-patient panel. Patients identified with mutations underwent further detailed phenotyping. APEX analysis identified one patient with a previously reported homozygous LRAT mutation. Sequencing of the panel identified three additional patients with novel homozygous LRAT mutations in exon 2. All four patients had severe progressive nyctalopia, visual field constriction, and photophilia in childhood. Visual acuity ranged from 0.22 logMAR to hand motion. Funduscopy revealed severe retinal pigment epithelial atrophy and minimal retinal pigmentation. Asteroid hyalosis and macular epiretinal fibrosis were frequent. All demonstrated reduced fundus autofluorescence. Optical coherence tomography identified disrupted retinal lamination, outer-retinal debris, and an unidentif...Continue Reading

Citations

Oct 27, 2015·American Journal of Ophthalmology·Kim JiramongkolchaiMays A El-Dairi
Oct 2, 2012·Vision Research·Ander AnasagastiJavier Ruiz-Ederra
Nov 11, 2014·Nature Chemical Biology·Marcin GolczakKrzysztof Palczewski
May 18, 2016·Biochemistry·Avery E Sears, Krzysztof Palczewski
Oct 30, 2016·Nutrients·Sylwia ChelstowskaMarcin Golczak
Jun 9, 2020·Asia-Pacific Journal of Ophthalmology·Mays Talib, Camiel J F Boon
Jan 7, 2017·BMC Genomics·Cheng-Jian XuGerard H Koppelman
Dec 4, 2020·The Application of Clinical Genetics·Srikanta Kumar PadhySubhadra Jalali
Sep 29, 2019·Biochemical and Biophysical Research Communications·Marie-Eve GauthierChristian Salesse
Jan 25, 2020·Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids·Ioan Ovidiu SirbuAlexander Radu Moise
Oct 23, 2019·Experimental Eye Research·Altaf A Kondkar, Khaled K Abu-Amero
Jul 21, 2021·International Journal of Molecular Sciences·Céline KosterArthur A Bergen
Aug 25, 2021·Indian Journal of Ophthalmology·Deven DhurandharRaja Narayanan

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