Purpose: To report a rare case of bilateral circumscribed posterior keratoconus in microcornea associated with unilateral irido-fundal coloboma. Method: A case of bilateral circumscribed posterior keratoconus associated with unilateral irido-fundal coloboma presented to us with complaints of diminution of vision in both eyes since birth. The patient had undergone renal transplant for end stage ...

Recently, mycophenolate mofetil (MMF) has been introduced in the immunosuppressive strategy after kidney transplantation. Recently, the existence of a MMF associated embriopathy has been hypothesized, namely, multiple craniofacial malformations. Only 1 report has described chorioretinal coloboma. We report a case of woman who used MMF throughout pregnancy after kidney transplantation. Her newbo...

purpose: to describe the variability of ocular and systemic findings in two brothers with gaucher's disease. case report: ophthalmic, general clinical evaluation and enzymatic studies were performed in two brothers, 14 and 7 years old with gaucher’s disease. mental retardation, occipital meningomyelocele and gaucher cells in bone marrow in addition to high myopia and various fundus abnorma...

OBJECTIVES To report a novel SOX2 (OMIM 184429) mutation in a Chinese family and to describe its ocular and extraocular clinical features. METHODS Ocular and systemic examinations were performed, and genomic DNA was prepared from peripheral leukocytes. The coding exons and the adjacent intronic sequence of SOX2 were analyzed by cycle sequencing. RESULTS A novel heterozygous c.695C>A (p.Thr2...

Achondroplasia is a congenital disorder resulting from a specific disturbance in endochondral bone formation. The ophthalmic features reportedly associated with achondroplasia are telecanthus, exotropia, inferior oblique overaction, angle anomalies and cone-rod dystrophy. This is first report of chorioretinal coloboma in achondroplasia. An 8-year-old female was diagnosed with a developmental de...

PURPOSE Fibrillin-2 (Fbn2) is the dominant fibrillin isoform expressed during development of the mouse eye. To test its role in morphogenesis, we examined the ocular phenotype of Fbn2(-/-) mice. METHODS Ocular morphology was assessed by confocal microscopy using antibodies against microfibril components. RESULTS Fbn2(-/-) mice had a high incidence of anterior segment dysgenesis. The iris wa...

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...