نتایج جستجو برای: ocular coloboma
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PURPOSE We report ophthalmic manifestations in four Jacobsen syndrome cases, review the literature, and suggest phenotype-genotype correlations. METHODS Chart review of Ocular Genetics Program patients at The Hospital for Sick Children, Toronto, Canada. RESULTS Four del11qter cases are presented. Hypertelorism/telecanthus, abnormally slanted palpebral fissures, abnormal retinal findings, na...
Anomalies of eye development can lead to the rare eye malformations microphthalmia and anophthalmia (small or absent ocular globes), which are genetically very heterogeneous. Several genes have been associated with microphthalmia and anophthalmia, and exome sequencing has contributed to the identification of new genes. Very recently, homozygous variations within ALDH1A3 have been associated wit...
Rubinstein-Taybi syndrome (RSTS) is a multisystem developmental disorder characterized by facial dysmorphisms, broad thumbs and halluces, growth retardation, and intellectual disability. In about 8% of RSTS cases, mutations are found in EP300. Previously, the EP300 mutation has been shown to cause the highly variable RSTS phenotype. Using exome sequencing, we identified a de novo EP300 frameshi...
Ocular coloboma is a rare malformation which occurs as an isolated defect in healthy individuals or be part of complex syndrome known unknown etiology. Patients with iris and choroid complicated cataract should have surgery to improve their BCVA, if there no retinal detachment.We report the case right eye male following consultation.The patient had inferonasal iris, resulted pear-shaped pupil l...
We describe two brothers with Joubert syndrome (JS). JS diagnosis was made on the basis of neurological findings and the presence of the characteristic "molar tooth sign", which was subsequently confirmed by magnetic resonance imaging. Both brothers demonstrated ptosis, hypotropia, exotropia, and horizontal pendular nystagmus. The younger brother had mild chorioretinal discoloration at the peri...
A PERUSAL of the literature suggests that the ring-shaped tumour (cristallwulst) of regenerating lens substance first described by Soemmerring (1828) is not uncommon but may pass unrecognized unless the pupil is very wide, a congenital or operative coloboma of the iris is present, or the ring has become dislocated (Figs 1 and 2). Not more than fourteen cases of dislocation have so far been publ...
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