Recurrent lacrimal gland choristoma of the ciliary body in an infant mimicking a medulloepithelioma.

Purpose: Choristoma is a congenital tumor made up of ectopic normal tissue. Different histopathologic subtypes have been described. Among them, lacrimal gland choristoma is found mainly in infants and can affect the iris, the ciliary body, or the choroid and epibulbar region.

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network.

Ocular developmental anomalies (ODA) such as anophthalmia/microphthalmia (AM) or anterior segment dysgenesis (ASD) have an estimated combined prevalence of 3.7 in 10,000 births. Mutations in SOX2 are the most frequent contributors to severe ODA, yet account for a minority of the genetic drivers.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

Purpose: To assess the prevalence of PRPH2 in autosomal dominant retinitis pigmentosa (adRP), to report 6 novel mutations, to characterize the biochemical features of a recurrent novel mutation, and to study the clinical features of adRP patients.

Design: Retrospective clinical and molecular genetic study.

Methods: Clinical investigations included visual field testing, fundus examination, high-resolution spectral-domain optical coherence tomography (OCT), fundus autofluorescence imaging, and electroretinogram (ERG) recording.

Visual Impairment in Pseudoxanthoma Elasticum: A Survey of 40 Patients.

Background: Pseudoxanthoma elasticum is an inherited disorder of connective tissue characterized, among other symptoms, by impaired vision.

Objective: To evaluate the nature and age of onset of ophthalmologic manifestations in pseudoxanthoma elasticum.

Patients And Methods: Forty consecutive patients affected with pseudoxanthoma elasticum underwent measurements of their refractive error and visual acuity, together with slit-lamp examination.

Acro-osteolysis, keloid like-lesions, distinctive facial features, and overgrowth: two newly recognized patients with premature aging syndrome, Penttinen type.

We report on two unrelated patients with a rare progeroid syndrome first described by Penttinen. Patients presented with prematurely aged appearance, delayed dental development, acro-osteolysis, diffuse keloid-like lesions, and ocular pterygia. Facial features are progressive but recognizable at birth.

Benefit of bi-ocular visual stimulation for postural control in children with strabismus.

Vision is important for postural control as is shown by the Romberg quotient (RQ): with eyes closed, postural instability increases relative to eyes open (RQ = 2). Yet while fixating at far distance, postural stability is similar with eyes open and eyes closed (RQ = 1). Postural stability can be better with both eyes viewing than one eye, but such effect is not consistent among healthy subjects.

[From congenital glaucoma to chronic open angle glaucoma in adulthood: a clinical and genetic continuum].

Congenital glaucoma, a true hydrocephalus of the eye, is defined by ocular hypertension resulting in buphthalmos in children up to three years old, the elasticity of the eye wall allowing its expansion. Juvenile glaucoma in teenagers and chronic glaucoma in adults do not alter the external aspect of the eye, as the eyeball has lost its elasticity. However, chronic ocular hypertension always causes ischemic excavation of the optic nerve head, leading to insidious amputation of the visual field and, potentially, blindness.

Postural control in nonamblyopic children with early-onset strabismus.

Purpose: In healthy subjects, the postural stability in orthostatic position is better when fixating at near than at far. Increase in the convergence angle contributes to this effect. Children with strabismus present a deficit in vergence.

Asymptomatic atrophy of the temporal median raphe of the retina associated with cerebral vasculopathy in homozygous sickle cell disease.

A 13-year-old girl with homozygous sickle cell disease was referred for vision loss in her left eye of 1 year's duration. Clinical findings were consistent with a past retinal arterial occlusion. In the asymptomatic right eye, spectral domain optical coherence tomography showed a severe atrophy of the inner retinal layers of the temporal median raphe; a significant internal carotid stenosis was also present.

Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria.

Purpose: To report the ocular complications of cobalamin-C type methylmalonic aciduria with homocystinuria (cblC) in a large consecutive series of patients.

Methods: Medical records of patients with genetically diagnosed cblC disease from Mount Sinai Medical Center, New York, and Hôpital Necker, Paris, France, were reviewed. All patients with the diagnosis of cblC seen after January 2008 at Mount Sinai and January 1998 at Hôpital Necker were included.

Subtypes of developmental coordination disorder: research on their nature and etiology.

Children with Developmental Coordination Disorder (DCD) are a group embracing clumsiness and developmental dyspraxia. Our study provides a better understanding of the nature of DCD and its etiology, and identifies subtypes of dyspraxia. Forty-three children with DCD (5-15 years) were enrolled on the Diagnostic and Statistical Manual of Mental Disorders (4th ed.

[Under cover penetrating keratoplasty: a safer technique, especially for children].

Penetrating keratoplasty is usually performed when the cornea has lost all transparency Irrespective of the instruments used, the most awkward step occurs when the cornea is removed. In aphakic and infant eyes there is a high risk of lens expulsion, vitreous loss, or choroidal effusion. Under-cover penetrating keratoplasty never leaves the anterior segment exposed, and is therefore safer for infant and aphakic eyes and when large-diameter trepanation is necessary.

Truncation of PITX2 differentially affects its activity on physiological targets.

The bicoid-like transcription factor PITX2 has been previously described to interact with the pituitary-specific POU homeodomain factor POU1F1 (human ortholog of PIT-1) to achieve cell-specific expression of prolactin (PRL) and GH in pituitary somatolactotroph cells. In this work, we have investigated the functional properties of three PITX2 mutants reported in Axenfeld-Rieger syndrome patients relative to the regulation of these genes, using reporter genes under the control of human PRL (hPRL), hGH, or POU1F1 promoters transfected in nonpituitary and pituitary cell lines. Among the three mutations studied, Y167X and E101X introduce a premature stop codon, and F104L leads to an amino acid substitution.

Superficial punctate keratitis and conjunctival erosions associated with congenital tufting enteropathy.

Purpose: To study the value of conjunctival biopsy in congenital tufting enteropathy diagnosis.

Design: Case-comparative study.

Methods: Between January 2000 and June 2007, all children seeking treatment with an early onset of intractable diarrhea were examined in the ophthalmology department of Necker-Enfants Malades Hospital, Assistance Publique-Hôpitaux de Paris, France.

TMEM126A, encoding a mitochondrial protein, is mutated in autosomal-recessive nonsyndromic optic atrophy.

Nonsyndromic autosomal-recessive optic neuropathies are rare conditions of unknown genetic and molecular origin. Using an approach of whole-genome homozygosity mapping and positional cloning, we have identified the first gene, to our knowledge, responsible for this condition, TMEM126A, in a large multiplex inbred Algerian family and subsequently in three other families originating from the Maghreb. TMEM126A is conserved in higher eukaryotes and encodes a transmembrane mitochondrial protein of unknown function, supporting the view that mitochondrial dysfunction may be a hallmark of inherited optic neuropathies including isolated autosomal-recessive forms.

Vertical and horizontal smooth pursuit eye movements in children: a neuro-developmental study.

An evaluation of eye movements is very useful in neurological disorders but is complicated by issues such as maturation and lack of normative data in children. In order to address these issues we studied smooth pursuit eye movements of 65 normal children aged 7-11 years old. The gain of horizontal smooth pursuit (HSP) was higher than the gain of the vertical smooth pursuit (SP) and this difference had a statistical tendency to disappear with aging from 7 to 11 years.

Familial congenital oculomotor apraxia: clinical and electro-oculographic features.

The electro-oculographic (EOG) features of both horizontal and vertical eye movements in congenital oculomotor apraxia (COMA) were not previously reported. A girl referred to the ophthalmologic department for abnormal eye movements was diagnosed as COMA. The same abnormal ocular movements were observed in her younger sister and her father who was unaware of his difficulties to initiate voluntary saccades.

Carotid artery dissection revealed by an oculosympathetic spasm.

Internal carotid dissection can be responsible for stroke and lead to severe neurological and functional complications. Thus, it must be diagnosed and treated with heparin as soon as possible. Horner syndrome is one of the most usual manifestations of internal carotid dissection.

Mutations in LCA5 are an uncommon cause of Leber congenital amaurosis (LCA) type II.

Leber congenital amaurosis (LCA) is the earliest and most severe form of inherited retinal dystrophy responsible for blindness or severe visual impairment at birth or within the first months of life. Up to date, ten LCA genes have been identified. Three of them account for ca.

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.