Systemic abnormalities in children with congenital optic disc excavations.

Purpose: Together with optic disc hypoplasia, excavated optic disc anomalies represent the most frequent congenital abnormality involving the optic nerve head. The purpose of the present study was to retrospectively review the results of a screening for extraocular abnormalities in children presenting with congenital optic disc excavations.

Materials And Methods: The medical records of 37 patients diagnosed with a unilateral or bilateral non glaucomatous optic disc excavation were retrospectively reviewed to analyze the result of the extra ocular evaluation and to report the associated ocular abnormalities.

Loss of Otx2 in the adult retina disrupts retinal pigment epithelium function, causing photoreceptor degeneration.

Photoreceptors are specialized neurons of the retina that receive nursing from the adjacent retinal pigment epithelium (RPE). Frequent in the elderly, photoreceptor loss can originate from primary dysfunction of either cell type. Despite intense interest in the etiology of these diseases, early molecular actors of late-onset photoreceptor degeneration remain elusive, mostly because of the lack of dedicated models.

The homeobox gene Otx2 in development and disease.

The Otx2 gene encodes a transcription factor essential for the normal development of brain, cerebellum, pineal gland, and eye. In the retina, Otx2 has essential functions from early embryogenesis to adulthood. As soon as the optic vesicle is formed, the gene is required for retinal pigment epithelium specification.

Chromosome 6p25 deletion syndrome: report of a case with optic disc coloboma and review of published ophthalmic findings.

Purpose: The 6p25 deletion syndrome is a rare disorder characterized by Dandy-Walker malformation, congenital heart defects, developmental delay, dysmorphic facial features, and malformations of the anterior segment of the eye with a risk for glaucoma. Here we report a child harboring a cryptic de novo 6p25 deletion, bilateral optic disc coloboma and characteristic anterior segment anomalies. We review reported ophthalmic findings in patients with this syndrome.

[Ocular manifestations in patients affected by Morquio syndrome (MPS IV)].

Purpose: The purpose of this study was to investigate the ocular manifestations in patients suffering from Morquio syndrome.

Methods: We reviewed the hospital records of 20 patients who underwent ophthalmological follow-up at hôpital Femme-Mère-Enfant, Bron, France, between December 2008 and February 2010.

Results: This retrospective study included 20 patients: 12 males and eight females.

Otx2 gene deletion in adult mouse retina induces rapid RPE dystrophy and slow photoreceptor degeneration.

Background: Many developmental genes are still active in specific tissues after development is completed. This is the case for the homeobox gene Otx2, an essential actor of forebrain and head development. In adult mouse, Otx2 is strongly expressed in the retina.

Nonpenetrating external trabeculectomy for congenital glaucoma: a retrospective study.

Objective: To evaluate the results of nonpenetrating external trabeculectomy (NPET) for primary congenital glaucoma (CG).

Design: Retrospective, noncomparative, interventional case series.

Participants: Forty-three eyes of 27 consecutive patients with primary CG.

A new GFP-tagged line reveals unexpected Otx2 protein localization in retinal photoreceptors.

Background: Dynamic monitoring of protein expression and localization is fundamental to the understanding of biological processes. The paired-class homeodomain-containing transcription factor Otx2 is essential for normal head and brain development in vertebrates. Recent conditional knockout studies have pointed to multiple roles of this protein during late development and post-natal life.

Anterior segment dysgenesis in a child with factor VII deficiency.

Purpose: To describe the first case of anterior segment dysgenesis associated with factor VII congenital deficit (hypoproconvertinemia).

Method: A 2-month-old child with factor VII deficiency was referred to our clinic because of corneal opacities. The child was born to consanguineous parents and severe factor VII deficiency was diagnosed on the third day of life because of gastrointestinal bleeding.

[Persistence and hyperplasia of primary vitreous].

The persistence of the fetal vascular system is a rare ocular malformation whose origin remains unknown. It comprises a group of complex ocular malformations from which the various clinical forms have a heterogeneous functional prognosis. The diagnosis depends on a precise and complete examination of the child's eye, often under general anesthesia.

[Persistent hyperplastic primary vitreous: a retrospective study].

Objectives: The persistence and hyperplasia of the primary vitreous is a rare ocular malformation whose origin remains unknown. The goal of this study was to retrospectively analyze the records of the children followed in our department and to note sex, antecedents, age and reason for the first consultation, side and ocular structures involved, treatment, follow-up, complications, and progression.

Methods: The initial clinical examination was noted and completed by the examination under general anesthesia and the surgical or nonsurgical treatment proposed.

Ocular anomalies associated with interstitial deletion of chromosome 2q31: case report and review.

We describe a newborn girl with multiple malformations associated with an interstitial deletion of chromosome 2q (q24q32). Clinical findings included growth retardation, microcephaly, facial malformations, common atrioventricular canal, digital anomalies of both hands and feet, and ovarian hypoplasia. Bilateral ocular anomalies included down-slanting palpebral fissures, blepharophimosis, microphthalmia, uveal coloboma, and corneal opacity.

New phenotype associated with an Arg116Cys mutation in the CRYAA gene: nuclear cataract, iris coloboma, and microphthalmia.

Objective: To describe a new phenotype with an arginine-to-cysteine mutation at position 116 (Arg116Cys) in the CRYAA gene.

Methods: We investigated a 4-generation French family with autosomal dominant cataract and performed a genetic linkage analysis using microsatellite DNA markers encompassing 15 known cataract loci. Exons 1, 2, and 3 and flanking intronic sequences of the CRYAA gene were amplified and analyzed using direct sequencing.

[Ultrasound biomicroscopy and physiopathology of congenital iris cysts].

Aims: Iris epithelial cysts, congenital or acquired, are rare tumors of the anterior chamber. The use of ultrasound biomicroscopy (UBM) and high-resolution echography (50 MHz) specified the diagnosis and confirmed the developmental hypothesis.

Methods: UBM examination with general anesthesia can provide very good vision of cysts and iris structure similar to histological examination.

Combined pars plana phacofragmentation, vitrectomy, and Artisan lens implantation for traumatic subluxated cataracts.

Purpose: To report on the outcome of combined pars plana phacofragmentation, vitrectomy, and Artisan lens implantation in the management of subluxated cataracts.

Methods: This prospective, interventional, nonrandomized case series included nine eyes of seven consecutive adult patients with traumatic lens subluxation. Pre- and postoperative data (complete manifest refraction, best spectacle-corrected visual acuity, slit-lamp examination findings, intraocular pressure, fundus status, numerical density of endothelial cells, corneal thickness, and complications) were collected prospectively for all patients.

Influence of intraocular lens material on the development of acute endophthalmitis after cataract surgery?

Purpose: To investigate the causal relationship between acute postoperative endophthalmitis (POE) after cataract surgery and the biomaterial properties of the intraocular lens (IOLs) implanted.

Methods: This retrospective cohort study included all patients who had undergone cataract surgery with IOL implantation at the Lyon Croix-Rousse University Hospital between 1st January 1994 and 31st December 2004. Details respecting the type of IOL implanted (material and manufacturer) were meticulously recorded.

[Congenital cataract: general review].

Cataract is a loss of lens transparency because of a protein alteration. Etiopathogenesis is poorly understood but new mutations of different developmental genes involved are found in 25% of cases. Frequency of onset, particularly when different ocular development anomalies occur, is related to the lens induction phenomena on the eye's anterior segment structure during embryologic development.

[Perforating ocular injuries in children: a retrospective study of 57 cases].

Purpose: The purpose of this study was to investigate the current causes and outcomes of open eye injuries in children.

Patients And Methods: We reviewed the hospital records of 57 patients under 14 years of age who were treated for open globe injuries at Edouard Herriot Hospital, Lyon, France, between January 1999 and December 2003.

Results: This review includes 57 patients: 41 males and 16 females.

[Conjunctival tumors in children. A histopathologic study of 42 cases].

Purpose: The aim of this study was to describe the clinicopathological characteristics of 42 conjunctival tumors surgically removed in children.

Patients And Methods: Records of all conjunctival tumors surgically removed in children during the 11-year period 1990-2001 were collected from the records of the Department of Ophthalmology, Edouard Herriot Hospital, Lyon. In all cases, the tumor was resected with no additional treatment.

Coats' disease and bilateral cataract in a child with Turner syndrome: a case report.

Purpose: To report the first case in which Coats' disease was observed with infantile cataract in a girl with Turner syndrome (TS).

Materials And Methods: We examined a 4-year-old female infant with TS who was referred with a diagnosis of leukocoria in the left eye.

Results And Discussion: Examination under anaesthesia revealed a bilateral punctate cataract and left eye fundus showed vascular retinal abnormalities typical of Coats' disease.

Toxic effects of indocyanine green, infracyanine green, and trypan blue on the human retinal pigmented epithelium.

Background: Indocyanine green, infracyanine green, and trypan blue are frequently used as aids to visualize structures removed during vitreoretinal surgery. But they may have toxic effects on the retina. We therefore compared the acute and chronic toxicities of these stains on cultured human retinal pigmented epithelial (RPE) cells using clinically relevant concentrations and an identical experimental setup for each agent.