PURPOSE We report a case of inferior rectus muscle aplasia in a 65-year-old woman. METHODS Images were obtained using ocular motility photography and magnetic resonance imaging (MRI), and operative findings were analyzed. RESULTS A 65-year-old woman presented with marked right hypertropia. The right eye also had microcornea, iris coloboma, and completely restricted downward movement. MRI sh...

Renal coloboma syndrome (RCS) is a rare inherited condition exhibiting a variable clinical phenotype of renal and ocular abnormalities. In 50% of cases, mutations can be found in the transcription factor PAX2. We present three generations of a family with a PAX2 mutation who showed variable eye and renal phenotypes. Renal phenotypes ranged from normal kidneys with the absence of proteinuria to ...

Coloboma confined to the optic disc is a relatively rare condition (Steinberg, 1943), and has been described as unilateral in the majority of cases (Duke-Elder, I964; FranSois, I964). However, manifestation of the deformity may occur in the other eye (Hughes, 1947), and a number of bilateral cases have now been described. This paper records another bilateral case. A 35-year-old man was found to...

CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major c...

Abstract Background CHARGE syndrome (CS) is a rare genetic disease characterized by constellation of clinical findings including Coloboma, Heart defects, choanal Atresia, Retardation growth and/or development, Genitourinary malformation and Ear abnormalities. We present case persistent fifth aortic arch (PFAA), an extremely congenital anomaly (AA), in child with genetically confirmed CS perform...

We report a case of recurrent choroidal neovascularization (CNV) in an eye with chorioretinal coloboma. A 36-year-old woman presented complaining of decreased visual acuity (VA) in her left eye. Best corrected visual acuity (BCVA) was 20/200 and iris coloboma was observed. Funduscopy and fluorescein angiography (FA) showed CNV in the superior extrafoveal region with chorioretinal coloboma reach...

purpose : we describe our experience on safety and effectiveness of phacoemulsification in cataract and congenital iris coloboma and point out some specific surgical recommendations aimed to minimize its complications. methods : a prospective case series study was conducted on nineteen consecutive patients with cataract and congenital iris coloboma referred to the farabi eye hospital in tehran....