year-old) who had precocious puberty, mental retardation, phthisis bulbi and severe rickets, was presented. The parents were not relative. Her father and brother (the fifth brother out of 6 siblings) had slight mental retardation and ocular defects such as coloboma of the optic disc (father and brother), microphthalmia, cataract, and rotatory nystagmus (father). At the age of 3 years, the patie...

CHARGE association is characterized by ocular Coloboma, Heart malformations, choanal Atresia, Retardation of growth and development, Genital abnormalities and inner and external Ear abnormalities. Growth failure is a frequent find mainly associated with feeding difficulties or systemic diseases. To date, GH deficiency has been reported in only few patients with CHARGE association however long-t...

OBJECTIVE To report the ocular abnormalities found in children born after in vitro fertilization. METHODS Forty-seven children (25 girls and 22 boys) born after an in vitro fertilization pregnancy (mean +/- SD birth weight, 2335 +/- 817 g; range, 924-4300 g) and referred for ophthalmic evaluation were included in the study. All underwent a thorough ocular examination. Obstetric history was ga...

CHARGE syndrome is a congenital disorder caused by mutation of the chromodomain helicase DNA binding protein 7 (CHD7) gene and is characterized by multiple anomalies including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genital and/or urological abnormalities, ear anomalies, and hearing loss. In the present study, 76% of subjects had some type of endocrine ...

Encephalocraniocutaneous lipomatosis or Haberland syndrome is a rare, congenital neurocutaneous syndrome. It is characterized by unilateral lipomatous hamartomata of the scalp, eyelid, and outer globe of the eye and ipsilateral neurologic malformations. We describe the first case from Lebanon, an infant with classical encephalocraniocutaneous lipomatosis characterized by nevus psiloliparus, uni...

Introduction: Chorioretinal coloboma (CRC) results from abnormal closure of the embryonic fissure. Choroidal neovascularization (CNV) is a rare complication that associated with choroid. VEGF an important factor in development CNV.
 Case Report: A 52-year-old woman gradual blurred vision left eye since 4 months ago. Right was already she child uncorrected visual acuity (UCVA) 0.5/60. Her r...

CHARGE syndrome is an autosomal dominant syndrome in which ocular coloboma (C), heart defects (H), choanal atresia (A), growth retardation (R), genital hypoplasia (G), ear abnormalities (E), and tracheoesophageal fistula, dysphagia, cleft palate, micrognathia, facial paralysis, hypopituitarism, and brain abnormalities may be seen in patients. The patients with CHARGE syndrome face surgical proc...

BACKGROUND Choroidal coloboma, especially with optic disc involvement affects the blood vessel (BV) pattern in the fundus. AIM The aim of this study was to report the observations on the pattern of retinal BVs in eyes with fundus coloboma. DESIGN Retrospective observational study. MATERIALS AND METHODS Twenty four eyes of 19 patients with fundus coloboma and the disc involvement in the co...

Congenital birth defects are major cause of poor health among infants affecting their survivability. Although such anomalies the eyes uncommon, impact they have on quality life more than significant. This study aimed to describe clinical profile congenital ocular with various epidemiological parameters in a tertiary care center western Orissa. The screened 3674 patients, age group 0 – 14 years,...

PURPOSE To report the chorioretinal coloboma, and its association with increased risk of retinal detachment (RD) and choroidal neovascularization (CNV). METHODS This retrospective case series included eyes with chorioretinal coloboma diagnosed between 1995 and 2014 with a focus on RD and CNV as related complications. Cases of CNV were managed with laser photocoagulation or intravitreal inject...