Whole exome sequencing detects homozygosity for ABCA4 p.Arg602Trp missense mutation in a pediatric patient with rapidly progressive retinal dystrophy.

Background: A pediatric patient presented with rapidly progressive vision loss, nyctalopia and retinal dystrophy. This is the first report of homozygosity for the p.Arg602Trp mutation in the ABCA4 gene.

Comparative regional pupillography as a noninvasive biosensor screening method for diabetic retinopathy.

Purpose: We describe infrared regional pupillometry as an objective comparative assessment of midperipheral to central retinal sensitivity and to correlate with midperipheral retinal ischemia in diabetic subjects.

Methods: We tested 12 normal and 17 diabetic subjects using bilateral infrared pupillometry. The diabetic cohort included seven subjects without, five with mild, three with moderate, and two with severe non-proliferative diabetic retinopathy (NPDR).

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype.

Background: Variation in the complement factor H gene (CFH) is associated with risk of late age-related macular degeneration (AMD). Previous studies have been case-control studies in populations of European ancestry with little differentiation in AMD subtype, and insufficient power to confirm or refute effect modification by smoking.

Methods: To precisely quantify the association of the single nucleotide polymorphism (SNP rs1061170, 'Y402H') with risk of AMD among studies with differing study designs, participant ancestry and AMD grade and to investigate effect modification by smoking, we report two unpublished genetic association studies (n = 2759) combined with data from 24 published studies (26 studies, 26,494 individuals, including 14,174 cases of AMD) of European ancestry, 10 of which provided individual-level data used to test gene-smoking interaction; and 16 published studies from non-European ancestry.

Sustained elevated intraocular pressures after intravitreal injection of bevacizumab, ranibizumab, and pegaptanib.

Purpose: To investigate elevated intraocular pressures (IOP) (defined by a measurement >25 mmHg at a follow-up visit) after an intravitreal injection of anti-vascular endothelial growth factor agents for age-related macular degeneration.

Methods: Retrospective review of medical records.

Results: A total of 127 patients (155 eyes) received an intravitreal injection of anti-vascular endothelial growth factor agents (bevacizumab, ranibizumab, or pegaptanib) ranging from 1 to 39 injections for more than a period of 30 to 1759 days.

Ocular manifestations of oblique facial clefts.

Introduction: In the Tessier classification, craniofacial clefts are numbered from 0 to 14 and extend along constant axes through the eyebrows, eyelids, maxilla, nostrils, and the lips. We studied a patient with bilateral cleft 10 associated with ocular abnormalities.

Method: Clinical report with orbital and cranial computed tomography.

Orbital ectopic brain tissue in Aicardi syndrome.

Background: Aicardi syndrome is a cerebroretinal disorder originally described in 1965. Its salient clinical features are infantile spasms, agenesis of corpus callosum, hypsarrhythmia, and a pathognomonic optic disc appearance consisting of multiple depigmented chorioretinal lacunae clustered around the disc.

Methods: Clinical report with cranial computed tomography and biopsy results.

Orbital magnetic resonance imaging of extraocular muscles in chronic progressive external ophthalmoplegia: specific diagnostic findings.

Introduction: Chronic progressive external ophthalmoplegia (CPEO) is characterized by slowly progressive bilateral ophthalmoplegia and blepharoptosis. Molecular diagnosis is problematic because sporadic mitochondrial DNA deletions can be causative. We sought findings using magnetic resonance imaging (MRI) that might support the diagnosis of CPEO.

High-resolution magnetic resonance imaging demonstrates abnormalities of motor nerves and extraocular muscles in patients with neuropathic strabismus.

Introduction: Although the ocular motility examination has been used traditionally in the diagnosis of strabismus that is a result of cranial nerve (CN) abnormalities, magnetic resonance imaging (MRI) now permits the direct imaging of lesions in CN palsies.

Methods: Prospectively, nerves to extraocular muscles (EOMs) were imaged with T1 weighting in orbits of 83 orthotropic volunteers and 96 strabismic patients in quasicoronal planes using surface coils. Intraorbital resolution was 234-312 microns within 1.

Orbital imaging demonstrates occult blow out fracture in complex strabismus.

Background: While strabismologists are familiar with diagnostic evaluation of suspected blow out fractures, unsuspected blow out fractures may further complicate difficult cases of strabismus not clinically supposed to be related to orbital trauma.

Methods: According to a prospective protocol, we studied five adults presenting with diplopia, and one with convergence-related asthenopia. No patient recalled or had any clinical suspicion of orbital fracture at initial evaluation.