AIMS This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. METHODS Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. RESULTS In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), s...

It is well recognized that typical colobomata of the uveal tract may show a strong hereditary tendency and that the transmission is usually dominant (Kelecom, I967). Associated with such colobomata there may be other ocular anomalies, such as microcornea (Srivastava, I96I; Batra and Paul, I967), microphthalmos (Petrovic-Ducic, I959; Duggan and Hassard, I96I; Zeiter, i963), aniridia (Lewallen, I...

Purpose Heterozygous mutations in OTX2 have been associated with a range of ocular and pituitary abnormalities. We report a novel heterozygous deletion in OTX2 underlying early-onset retinal dystrophy with atypical maculopathy. Methods Clinical examination included electroretinography and multimodal retinal imaging. Molecular genetic testing was composed of next-generation sequencing of a pan...

The prevalence and mode of inheritance of major genetic eye diseases have been investigated in China since the establishment of the Section of Ophthalmic Genetics of the Chinese Society of Genetics. Mass screening of genetic eye diseases has been undertaken in many districts in China, covering more than 700,000 people, and more than 5000 pedigrees of genetic eye diseases have been collected and...

The Hallermann-Streiff syndrome is a complex association of developmental anomalies principally involving structures of ectodermal origin. The constant expressions of the syndrome are dyscephaly with mandibulo-facial malformation, bilateral congenital cataracts, and dental anomalies, while hypotrichosis, cutaneous atrophy, microphthalmos, and proportionate dwarfism are frequently present (Table...

The anatomy of reptile ears and eyes differ from that of mammals, and among different reptile groups. Species predilections exist for different Problems associated with the ears of reptiles include nodular swelling, discolored tympanum, head tilt, and circling. Problems of the eyes include pronounced or frequent blinking, periorbital swelling, blepharoedema (palpebral edema), buphthalmos (enlar...

1. Cogan DG: Pathology of the optic nerve. In: Albert DM, Jakobiec FA, eds: Principles and Practice of Ophthalmology. Vol 4. Philadelphia: WB Saunders Co; 1994:2359-2371. 2. Weiss A, Martinez C, Greenwald M. Microphthalmos with cyst: clinical presentations and computed tomographic findings. J Pediatr Ophthalmol Strabismus. 1985;22:6-12. 3. April MM, Seymour BT, Duboys E, et al. Massive cystic h...