Syndrome of myelinated retinal nerve fibers, myopia, and amblyopia: a review

AB Tarabishy, TJ Alexandrou, EI Traboulsi - Survey of ophthalmology, 2007 - Elsevier
Myelinated retinal nerve fibers are developmental anomalies that are present in
approximately 1% of all eyes. They may be associated with ipsilateral high myopia and …

Leber congenital amaurosis: clinical correlations with genotypes, gene therapy trials update, and future directions

DC Chung, EI Traboulsi - Journal of American Association for Pediatric …, 2009 - Elsevier
Leber congenital amaurosis comprises a group of early onset childhood retinal dystrophies,
characterized by vision loss, nystagmus, and severe retinal dysfunction. To date, 15 …

Choroideremia: a review of general findings and pathogenesis

RG Coussa, EI Traboulsi - Ophthalmic genetics, 2012 - Taylor & Francis
Choroideremia (CHM) is an X-linked retinal dystrophy belonging to the family of blinding
disorders. It is characterized by progressive degeneration of the choriocapillaris, retinal …

[HTML][HTML] Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance

MA Tischfield, HN Baris, C Wu, G Rudolph… - Cell, 2010 - cell.com
We report that eight heterozygous missense mutations in TUBB3, encoding the neuron-
specific β-tubulin isotype III, result in a spectrum of human nervous system disorders that we …

Mutations in a Human ROBO Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

JC Jen, WM Chan, TM Bosley, J Wan, JR Carr, U Rüb… - Science, 2004 - science.org
The mechanisms controlling axon guidance are of fundamental importance in
understanding brain development. Growing corticospinal and somatosensory axons cross …

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

K Yamada, C Andrews, WM Chan, CA McKeown… - Nature …, 2003 - nature.com
Congenital fibrosis of the extraocular muscles type 1 (CFEOM1; OMIM# 135700) is an
autosomal dominant strabismus disorder associated with defects of the oculomotor nerve …

[HTML][HTML] Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2

A Li, X Jiao, FL Munier, DF Schorderet, W Yao… - The American Journal of …, 2004 - cell.com
Bietti crystalline corneoretinal dystrophy (BCD) is an autosomal recessive retinal dystrophy
characterized by multiple glistening intraretinal crystals scattered over the fundus, a …

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success

SG Jacobson, TS Aleman… - Proceedings of the …, 2005 - National Acad Sciences
Mutations in RPE65, a gene essential to normal operation of the visual (retinoid) cycle,
cause the childhood blindness known as Leber congenital amaurosis (LCA). Retinal gene …

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

RK Koenekoop, H Wang, J Majewski, X Wang… - Nature …, 2012 - nature.com
Leber congenital amaurosis (LCA) is a blinding retinal disease that presents within the first
year after birth. Using exome sequencing, we identified mutations in the nicotinamide …

Extreme hyperopia is the result of null mutations in MFRP, which encodes a Frizzled-related protein

OH Sundin, GS Leppert, ED Silva… - Proceedings of the …, 2005 - National Acad Sciences
Nanophthalmos is a rare disorder of eye development characterized by extreme hyperopia
(farsightedness), with refractive error in the range of+ 8.00 to+ 25.00 diopters. Because the …