Recent work suggests that dichoptic lateral interactions occur in the region of the visual field of one eye that corresponds to the physiological blind spot in the other eye (Tripathy, S. P., & Levi, D. M. (1994). The two-dimensional shape of spatial interaction zones in the parafovea. Vision Research, 34, 1127–1138.) Here we ask whether dichoptic lateral interactions occur in the region of the...

A patient had bilateral macular coloboma with aggregations of pigment clumps located perivascularly, predominantly paravenously, and in other parts of the retina. The Toxoplasma IgG antibody was negative. The diagnosis of bilateral macular coloboma with pigmented paravenous retinochoroidal atrophy was made and seemed to be a developmental abnormality in origin.

whole-body 18F-fluoro-2-deoxyglucose PET (FDG-PET) scan revealed 2 isolated hypermetabolic foci in the left upper pulmonary lobe and the left hilum, while the eye lesion was not detected (Figure 3). The patient received a short course of radiotherapy to the right eye. An upper-left lung lobectomy was performed and confirmed a primary adenocarcinoma (2 cm diameter; T1 N2 M1, stage IV). A chemoth...

Ocular coloboma (OC) is a defect in optic fissure closure and is a common cause of severe congenital visual impairment. Bilateral OC is primarily genetically determined and shows marked locus heterogeneity. Whole-exome sequencing (WES) was used to analyze 12 trios (child affected with OC and both unaffected parents). This identified de novo mutations in 10 different genes in eight probands. Thr...

Journal (Sorsby, 1939). The fundi in two brothers whose eye trouble dated back to the early twenties showed a sharplycircumscribed central area in which the choroidal vessels were sclerosed. It is suggested that these cases of choroidal sclerosis are allied to macular coloboma-coloboma on the one hand and " senile " macular degeneration due to choroidal sclerosis on the other, representing the ...

W H E N Guyer & Smith (1918, 1924) subjected pregnant rabbits to active and passive immunization with lens proteins, it was noted that a high percentage of the new-born showed lens anomalies and other ocular changes such as microphthalmia and coloboma of the iris. Though these experiments seem to indicate that antibodies circulating in the maternal circulation may interfere with embryonic devel...

Retinoic acid receptor (RAR) signaling is required for morphogenesis of the ventral optic cup and closure of the choroid fissure, but the mechanisms by which this pathway regulates ventral eye development remain controversial and poorly understood. Although previous studies have implicated neural crest-derived periocular mesenchyme (POM) as the critical target of RA action in the eye, we show h...

Ocular mal-development results in heterogeneous and frequently visually disabling phenotypes that include coloboma and microphthalmia. Due to the contribution of bone morphogenetic proteins to such processes, the function of the paralogue Growth Differentiation Factor 3 was investigated. Multiple mis-sense variants were identified in patients with ocular and/or skeletal (Klippel-Feil) anomalies...

CHARGE association refers to a constellation of congenital malformations of unknown etiology that includes ocular Coloboma, Heart defects, choanal Atresia, Retarded growth/development, Genital hypoplasia, and Ear anomalies and/or hearing loss. This paper discusses audiologic results in a set of fraternal twins with a diagnosis of CHARGE. Both infants exhibit external ear defects and audiologic ...

BACKGROUND Goltz syndrome or focal dermal hypoplasia (FDH) is an uncommon multisystem disorder. Herein, we report a typical case of FDH with unilateral ocular, cutaneous and skeletal features. CASE PRESENTATION a 4-year-old girl presented with microphthalmos and iris coloboma of the left eye, facial asymmetry, and a low-set protruding ear. Cutaneous changes included hypopigmented atrophic mac...