Incontinentia pigmenti (IP) is an uncommon X-linked dominant genodermatosis characterized by four cutaneous stages and frequent association with dental (90%), central nervous system (33%) and ocular (35%) anomalies. The exact pathogenesis of this disorder remains unknown.Herein, we report a newborn girl with inflammatory vesiculobullous and warty skin lesions and a positive family history of IP...

Goltz syndrome or focal dermal hypoplasia is a rare syndrome with mesoectodermal hypoplasia. This syndrome is an X-linked dominant disorder with involvement of the cutaneous, ocular, dental and skeletal systems. The most significant feature of this disease is connective tissue dysplasia. Here, we report a 30-year old woman who presented with congenital unilateral linear atrophic areas on her tr...

Marfan syndrome (MFS) is a genetic disorder which is inherited by autosomal dominant traits. In MFS, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. In this case study, the ocular involvement in a family with severe penetration of MFS is reported. Twelve members of a family (father, two daughters, three sons...

Linear Nevus Sebaceous Syndrome (LNSS) is a rare sporadic oculoneurocutaneous disorder, also classified as Organoid Nevus Syndrome. It consists of a triad of midline facial linear nevus sebaceous, central nervous system and ocular abnormalities. To the best of authors' knowledge ophthalmic features of LNSS have never been reported in Pakistani population. We report two cases of LNSS, associated...

PURPOSE This study aims to determine the prevalence, pattern, and time of presentation for the ocular disorders seen among children attending a pediatric eye clinic in Nigeria. MATERIALS AND METHODS A retrospective chart review of all first-time patients at a pediatric eye clinic, within 2005-2007 was carried out. Data on cohort demographics, duration of illness before the presentation, and t...

Systemic lupus erythematosus (SLE) is a chronic, autoimmune disorder involving multiple organ systems with variability in its clinical features and complexity of disease course. Ocular manifestations occur one-third SLE patients. Vision-threatening retinal vasculitis may be the initial eye presentation such cases. We herein present case teenage girl who exhibits signs symptoms after diagnosis S...

Congenital ocular motor apraxia (COMA) is a unique ocular motor disorder which is characterized by a deficit in initiation of voluntary horizontal eye movement with reserved reflex eye movement. Although a portion of cases with COMA were found to be associated with other abnormalities, COMA in most patients is an isolated disorder. The most characteristic appearance of these patients is compens...

marfan syndrome (mfs) is a genetic disorder which is inherited by autosomal dominant traits. in mfs, lens displacement and cardiovascular involvement are important causes of morbidity and mortality in the clinical course of the disease. in this case study, the ocular involvement in a family with severe penetration of mfs is reported. twelve members of a family (father, two daughters, three sons...

Graves' disease is a self-limiting autoimmune thyroid disorder caused by stimulating antibodies to the thyroid-stimulating hormone receptor. It usually affects middle-aged females in fourth sixth decade of life. distinguished keratopathy, chemosis, proptosis, and eyelid swelling, addition ocular discomfort. A total 3-5% cases present with severe form orbitopathy, which manifests diminution visi...