PURPOSE To report a rare case of encephalocraniocutaneous lipomatosis (ECCL) presented with characteristic multiple organ involvement. METHODS A 7-day-old white Iranian girl was referred with ocular, skin and brain abnormalities. RESULTS The findings of nevus psiloliparus, eyelid choristoma and intracranial lipoma were consistent with ECCL. CONCLUSION Since the skin and ocular manifestati...

morning glory syndrome (mgs) is a rare congenital optic disc anomaly characterized by a funnel-shaped, excavated optic disc surrounded by chorioretinal pigmentary disturbance. the main ophthalomoscopic feature of the mgs is enlarged optic disc with a funnel shaped scleral defect; elevated peripapillary chorioretinal pigmentation; and pale fluffy tissue of glial hyperplasia overlying the optic d...

purpose : to review ocular surface abnormalities caused by exposure to mustard gas and current approaches to manage its delayed-onset complications methods : a total of 198 medical articles related to mustard gas were reviewed using known international medical databases, 114 articles were more relevant to the main aim were selected. results : mustard gas-related ocular injuries can be divided i...

Wnt glycoproteins control key processes during development and disease by activating various downstream pathways. Wnt secretion requires post-translational modification mediated by the O-acyltransferase encoded by the Drosophila porcupine homolog gene (PORCN). In humans, PORCN mutations cause focal dermal hypoplasia (FDH, or Goltz syndrome), an X-linked dominant multisystem birth defect that is...

OBJECTIVES The aim of this study was to report the type and frequency of ocular manifestations in Brazilian psoriatic arthritis patients. METHODS We conducted a cross-sectional study in a Brazilian tertiary hospital. The test group included 40 patients who had psoriatic arthritis according to the Classification Criteria for Psoriatic Arthritis. A control group of 40 individuals was matched fo...

Smooth-pursuit eye tracking abnormalities have been consistently observed among schizophrenia patients and their relatives (Iacono and Clementz 1993; Levy et al 1993). Using a statistical technique called mixture analysis, recent studies have demonstrated that distributions of both the patients' and their relatives' ocular motor data are best characterized by two distinct components (Blackwood ...

Abnormalities of ocular motility serve as valuable signposts for the localization of lesions of the cerebral hemispheres, brainstem, cranial nerves, and even striated muscle. Ocular symptoms and signs are particularly helpful when examining the patient in coma (see Chapter 22). In this chapter, the term ocular motor refers to cranial nerves III (oculomotor), IV (trochlear), and VI (abducens), c...

OBJECTIVE To evaluate the frequency and characteristics of ocular manifestations in outpatients with systemic sclerosis. METHODS In this cross-sectional study, 45 patients with systemic sclerosis were enrolled. Data regarding demographics, disease duration and subtype, age at diagnosis, nailfold capillaroscopic pattern and autoantibody profile were collected, and a full ophthalmic examination...

OBJECTIVE Three cases of Aicardi Syndrome were diagnosed in our hospital. This syndrome is a rare, female-restricted genetic disease, characterized by agenesis of the corpus callosum, other central nervous system malformations, and chorioretinal lacunae. We have compared these cases with other cases of Aicardi Syndrome described in the world literature. METHODS We have reported the three case...

OBJECTIVE Anecdotal evidence has suggested that guinea pigs have a high prevalence of ocular lesions. Here we undertook a survey of 1000 guinea pigs from populations of animals kept as laboratory animals, breeding show cavies, animals kept as pets and those from rescue and rehoming centers. Each animal was examined to assess for ocular abnormalities. PROCEDURES A full ophthalmic examination w...