Purpose To evaluate consanguineous pedigrees from Pakistan with a clinical diagnosis of nonsyndromic congenital retinal nonattachment (NCRNA) and identify genes responsible for the disease as currently only one NCRNA gene is known (atonal basic helix-loop-helix transcription factor 7: ATOH7). Methods We implemented a three-step genotyping platform: single nucleotide polymorphism genotyping to...

PURPOSE To assess whether the early light deprivation induced by congenital cataract may influence the cone-driven retinal function in humans. METHODS Forty-one patients affected by congenital cataract (CC) who had undergone uncomplicated cataract extraction surgery and intraocular lens implant, and 14 healthy subjects (HS) were enrolled. All patients underwent complete ophthalmological and o...

Patients with congenital achromatopsia and congenital stationary night blindness have been known to show a transient pupillary constriction to darkness. We examined 50 normal subjects and 108 patients with retinal and optic nerve dysfunction to see if any had an initial pupillary constriction to darkness. We used a new infrared television apparatus. Four patients with congenital stationary nigh...

Eyes from cardiomyopathic hamsters (UM-X7.1 strain) were examined histologically for evidence of ocular defects. Changes observed included microphthalmia, scleral ectasia, scleral rupture, keratoconus, retinal detachment, retinal dysplasia, retinal fragmentation, retinal thinning, fibrosis of iris and ciliary body, ectopia lentis, and cataract formation. Lesions characteristic of cardiomyopathi...

Cutis marmorata telangiectatica congenita is a well-characterized cutaneous vascular disorder with variable and rare ocular involvement. It has been reported in association with glaucoma, bilateral congenital retinal detachments, bilateral tractional retinal detachments secondary to proliferative vitreoretinopathy, and retinoblastoma. This case demonstrates novel findings of bilateral periphera...

OBJECTIVE To document the findings of a newborn eye examination programme for detecting ocular pathology in the healthy full-term newborn. METHODS This is a cross-sectional study of the majority of newborns born in the Kunming Maternal and Child Healthcare Hospital, China, between May 2010 and June 2011. Infants underwent ocular examination within 42 days after birth using a flashlight, retin...

M uscle-eye-brain (MEB) disease is a rare congenital autosomal recessive disorder with around 30 reported cases in the literature. It is 1 of 3 types of congenital muscular dystrophy with severe defects in organogenesis and neuronal migration, and, along with Walker-Warburg syndrome, is associated with ocular abnormalities. Usually, the retina in MEB disease and Walker-Warburg syndrome is descr...

Dear Editor: Miyamoto et al show that intravitreal triamcinolone reduces macular edema as early as 1 hour after injection. They suggest that the time pattern demands that nongenomic mechanisms must be involved in the therapeutic effect of triamcinolone on retinal edema. Vasogenic edema in all tissues, including the retina, may be understood in terms of Starling’s law, by which the balance of hy...

This paper reports the occurrence of retinal detachment in 18 patients suffering from congenital glaucoma. Difficulty in establishing control of the glaucoma and the presence of high myopia were common findings. The poor results of detachment surgery were related to opacites in the media preventing evaluation of the renal details and the development of massive preretinal retraction.