Leber Congenital Amaurosis With Coats-Like Reaction and 3 Novel Sequence Variants: A Short Report

Abstract

Purpose:

This report discusses a patient with Leber congenital amaurosis who presented with severe bilateral Coats-like reaction and 3 novel sequence variants in 2 different genes.

Methods:

The patient underwent complete ophthalmic and retinal evaluations including fluorescein angiography and optical coherence tomography as well as genetic studies. She was treated with intravitreal injection of intravitreal bevacizumab and laser photocoagulation.

Results:

Genetic analysis of the patient identified 2 novel sequence variants in the CEP290 (centrosomal protein 290) gene and another novel sequence variant in the RPGRIP1 (RPGR interacting protein 1) gene.

Conclusions:

The clinical presentation of Coats-like reaction in Leber congenital amaurosis can be associated with sequence variants in certain genes. The presence of multiple gene sequence variants in this patient may have contributed to the severity of disease.

Keywords

Coats-like reaction genetic study Leber congenital amaurosis novel sequence variant

Get full access to this article

View all access options for this article.

References

Leber

. Über Retinitis pigmentosa und Angeborene Amaurose [in German]. Arch Ophthalmol. 1869;15(3):1–25.

den Hollander

Roepman

Koenekoop

Cremers

. Leber congenital amaurosis: genes, proteins and disease mechanisms. Prog Retin Eye Res. 2008;27(4):391–419. doi:10.1016/j.preteyeres.2008.05.003

Hanein

Perrault

Gerber

, et al. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat. 2004;23(4):306–317. doi:10.1002/humu.20010

den Hollander

Heckenlively

van den Born

, et al. Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. Am J Hum Genet. 2001;69(1):198–203. doi:10.1086/321263

Yzer

Hollander

Lopez

, et al. Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290. Mol Vis. 2012;18:412-425.

Kumaran

Moore

Weleber

Michaelides

. Leber congenital amaurosis/early-onset severe retinal dystrophy: clinical features, molecular genetics and therapeutic interventions. Br J Ophthalmol. 2017;101(9):1147–1154. doi:10.1136/bjophthalmol-2016-309975

Richards

Aziz

Bale

, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405–424. doi:10.1038/gim.2015.30