Elias I. Traboulsi

A family with Knobloch syndrome

Nora Fettinger, Meghan J. DeBenedictis, Jonathan E. Sears, Elias I. Traboulsi

1. Dear editor,We would like to provide additional observations to the existing research on the pathogenic COL18A1 c.3514_3515del variant associated with Knobloch Syndrome. We report on a consangui...

us (code pays fourni par la source)

Honoring Professor Andreas Gal

Elias I. Traboulsi, Brian P. Brooks

This issue of the Journal honors one of the Ophthalmic Genetics’ recently retired editors and world-renowned geneticist Andreas Gal. Professor Gal is a distinguished researcher and academic known f...

us (code pays fourni par la source)

Pigmentary Retinopathy in Systemic Inherited Disease

Eduardo Duarte Silva, Reecha S. Bahl, Elias I. Traboulsi

Abstract Pigmentary retinopathy represents the ocular manifestation and final common outcome of a number of metabolic and neurodegenerative diseases. The evaluation of patients with pigmentary retinopathy poses a unique challenge, especially in the pediatric population, as the same fundus picture may represent …

Optic Nerve Head Swelling and Optic Atrophy in the Systemic Mucopolysaccharides

Mary Louise Z. Collins, Elias I. Traboulsi, Irene Hussels Maumenee

The ocular findings in 108 patients representative of all types of mucopolysaccharidoses (MPS) were reviewed. Attention was focused on optic nerve head appearance. Optic nerve head swelling was observed in 8/14 eyes of MPS 1-Hurler (MPS 1-H); 9/21 MPS 1-Hurler-Scheie (MPS 1-H-S); …

us (code pays fourni par la source)