Background: In order to study the genetics of diseases more accurately and effectively, one often collects large families. Different members of a large family may provide differing information about the structure and make-up of their pedigree. Thus, software is needed to facilitate reconciliation of pedigrees collected independently from multiple informants from a single large family to create a unified pedigree that is based on the best composite information available.
View Article and Find Full Text PDFThe key to reducing the individual and societal burden of age-related macular degeneration (AMD)-related vision loss, is to be able to initiate therapies that slow or halt the progression at a point that will yield the maximum benefit while minimizing personal risk and cost. There is a critical need to find clinical markers that, when combined with the specificity of genetic testing, will identify individuals at the earliest stages of AMD who would benefit from preventive therapies. These clinical markers are endophenotypes for AMD, present in those who are likely to develop AMD, as well as in those who have clinical evidence of AMD.
View Article and Find Full Text PDFBackground: 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.
View Article and Find Full Text PDFPurpose: 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).
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study designs, participant ancestry and AMD grade and to investigate effect modification by smoking, we report two unpublished genetic association studies (n = 2759) combined with data from 24 published studies (26 studies, 26,494 individuals, including 14,174 cases of AMD) of European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.
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.
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.
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.
Purpose: The etiology of third nerve palsy is usually diagnosed by history, motility examination, and presence of lid and pupil involvement, as well as cranial and vascular imaging. We used high-resolution magnetic resonance imaging (hrMRI) of the oculomotor nerve and affected extraocular muscles (EOMs) to investigate oculomotor palsy.
Design: Prospective, noncomparative, observational case series in an academic referral setting.
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.
View Article and Find Full Text PDFIntroduction: 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.
Introduction: Although Brown syndrome classically is considered to be limited to the SO tendon sheath and trochlea, it does not always respond to SO surgery. We investigated mechanisms of Brown syndrome by magnetic resonance imaging (MRI).
Methods: Three patients with congenital and 8 with acquired Brown syndrome were compared with matched normal subjects under a prospective protocol of high-resolution, multipositional orbital MRI using surface coils.
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.