Congenital ectropion uveae presenting as acute glaucoma in a 3-year-old child.

Congenital ectropion uveae is a rare anomaly commonly associated with neurofibromatosis and occasionally with other ocular abnormalities. Glaucoma related with this condition may be present in infancy, or may develop later in life, and is thought to be due to an associated angle dysgenesis. Diagnosis is frequently delayed due to the subtle signs and the absence of symptoms and management is primarily surgical. We report an unusual case of unilateral congenital ectropion uveae in a 3-year-old child, with no evidence of neurofibromatosis, presenting as acute glaucoma, which was successfully managed by topical treatment only, avoiding surgical intervention.

The effect of acetazolamide on the retinal and choroidal vasculature of the macula and the optic disc using OCT angiography.

INTRODUCTION AND OBJECTIVES: To investigate the effect of acetazolamide (AZ) on the retinal and choroidal ocular microvasculature in the macula and radial peripapillary capillaries (RPC) of the optic disc with OCT Angiography (OCTA). MATERIALS AND METHODS: Nine-month observational cross-sectional study. Forty-five eyes from 45 healthy participants who underwent cataract surgery were recruited. Macular retina and choriocapillaris vessel density (VD) and RPC VD in the optic disc area were compared before and 60min after 250mg acetazolamide per os. Intraocular pressure (IOP) and systemic blood pressure (BP) were also measured before each scan. RESULTS: Mean age was 73.1±6.9 years. VDs in the superficial (SCP) and deep (DCP) capillary plexus of the retina and the choriocapillaris (CC) in the macular area showed no significant change (P>.5, for all parameters). VD in the RPC showed no significant change with AZ (P>.5, for all parameters). Foveal and parafoveal thickness increased from 248.98 (±23.89) to 250.33 (±23.74) and from 311.62 (±16.53) to 311.98 (±16.38) (P<.001 and P=.046), respectively. IOP decreased from 13.2 (±3.0) mmHg to 11.8 (±3.2) mmHg (P<.001), while systolic and diastolic BP decreased from 144.8 (±21.8) to 137.7 (±19.0) and from 80.0 (±12.7) to 76.2 (±11.7) (P=.021 and P=.030), respectively. CONCLUSIONS: OCTA imaging did not reveal any significant changes in the VD of the optic disc or the retinal and choroidal VD in the macula with oral AZ one hour after its administration in otherwise healthy participants who underwent cataract surgery.

A hydrophilic interaction liquid chromatography - Tandem mass spectrometry method for the determination of phenylephrine in dried blood spots from preterm infants.

A sensitive and accurate hydrophilic interaction liquid chromatography - tandem mass spectrometry method (HILIC-MS/MS) was developed and validated for the determination of phenylephrine concentration in Dried Blood Spot (DBS) samples from preterm infants, after ocular administration of an ophthalmic solution with phenylephrine. Sample preparation involved the extraction of the analyte from an 85 µL DBS sample with methanol - acetonitrile (50:50, v/v). Chromatographic separation was achieved on an ACQUITY UPLC BEH AMIDE column, under isocratic conditions within a 5 min run. Detection was achieved with a triple quadrupole MS applying electrospray ionization in positive mode. The method was fully validated and proved precise and accurate with in a linear range of 0.59-3.53 ng/ml in blood. The method was developed to provide insights on the level of exposure of infant population to phenylephrine after ocular administration.

Chromosome abnormalities and the genetics of congenital corneal opacification.

Congenital corneal opacification (CCO) encompasses a broad spectrum of disorders that have different etiologies, including genetic and environmental. Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridocorneal adhesions. This is not only confusing but also unhelpful in determining valid genotype-phenotype correlations, and thereby revealing clues for pathogenesis. We undertook a systematic review of the literature focusing on CCO as part of anterior segment developmental anomalies (ASDA), and analyzed its association specifically with chromosomal abnormalities. Genes previously identified as being associated with CCO are also summarized. All reports were critically appraised to classify phenotypes according to described features, rather than the given diagnosis. Some interesting associations were found, and are discussed.

Atypical Presentation of Sjögren-Larsson Syndrome.

Sjögren-Larsson syndrome is a rare neurocutaneous disorder characterized by ichthyosis, spastic diplegia or tetraplegia, and intellectual disability. Herein, we describe a case of a Greek patient with ichthyosis and spasticity of the legs but with normal intelligence (IQ 95). This syndrome should be suspected when a child presents with ichthyosis and spastic diplegia or tetraplegia, even if intelligence is normal.

Vertical and torsional correction in congenital superior oblique palsy by inferior oblique recession.

PURPOSE: Inferior oblique recession (Fink's technique) is one of various surgical procedures to manage congenital superior oblique muscle palsy. The authors aimed to determine the effectiveness of this operation in reducing vertical deviation and torsional deviation, and to assess the dose-effect relationship. METHODS: Fifty-eight patients presenting with unilateral congenital superior oblique palsy had an inferior oblique recession of 6 mm, 8 mm, or 10 mm (16, 35, and 7 patients, respectively). Vertical deviation and torsional deviation were measured before and after surgery by means of the dark red glass dissociation in front of Harms'tangent screen and the data were analyzed retrospectively. RESULTS: A cure rate of 88% was achieved, with no complications, and no overcorrections. For the 34 patients for whom long-term follow-up was possible (mean 2.8 years), final median postoperative vertical deviations and torsional deviations were 0.5 degrees and 0 degrees, respectively, both in primary position and in adduction upgaze. CONCLUSIONS: Inferior oblique weakening by recession proves to be an efficient and safe procedure for congenital superior oblique palsy, and its effect on vertical deviation can be predicted on the extent of recession. The operation can therefore be adapted to the patient, depending on the degree of the preoperative deviation.

MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland.

PURPOSE: To determine MYOC gene mutation frequency in patients with primary open-angle glaucoma (POAG) from Western Switzerland. METHODS: A total of 117 unselected index patients with primary open-angle glaucoma were submitted to a full eye examination. DNA was extracted from blood and PCR amplicons of MYOC exon 3 were screened for mutations by single-strand conformation polymorphism (SSCP) analysis. Abnormal conformers were analyzed both by direct bidirectional sequencing and by enzymatic mutation detection (EMD) assay. RESULTS: Ten occurrences of four different sequence changes were detected, including: 1) five times the same disease-causing mutation (Q368X) in five unrelated POAG patients and 2) three distinct polymorphisms in five patients. The patients carrying an MYOC mutant allele were characterized by a broad clinical variability in terms of age of onset (34-77 years) and highest intraocular pressure (IOP) values (23-47 mmHg). CONCLUSIONS: A pathogenic MYOC mutation (Q368X) was identified in 4.27% (5/117) of the studied population from Western Switzerland, which corresponds to the highest frequency yet reported for this mutation.

[Choroidal melanoma in neurofibromatosis type 2: description of a case]. / Description d'un mélanome de l'uvée dans le cadre d'une neurofibromatose de type 2.

To the best of our knowledge this is the first description of a choroidal melanoma with documented growth in neurofibromatosis type 2 (NF2). A 20-year-old patient with NF2 presenting deafness due to bilateral acoustic neurinomas and unilateral amaurosis due to a meningioma of the optic nerve developed a pigmented parapapillary choroidal tumor. Despite signs indicating the diagnosis of a melanoma, periodic observation was chosen in order to postpone functional amputation following optic nerve irradiation. The tumor growth was slow during the 5 years that followed, and once progression became rapid, the tumor was treated by accelerated proton beam radiotherapy. One year later, visual acuity diminished due to actinic optic neuropathy and was stabilized at 0.3 for the 2 following years. The tumor presented objective signs of regression, and no sign of metastatic disease was observed. The therapeutic approach in this case provided local control of the tumor while preserving useful visual function.

The use of punctal plugs in children.

BACKGROUND/AIMS: To evaluate the safety and efficacy of punctal plugs in children with dry eye syndrome. METHODS: A retrospective case series of patients who had an insertion of silicone punctal plugs for dry eye syndrome. Data collected included presenting symptoms, signs, systemic disorders if present, type of anaesthesia and complications by the time of last follow-up. RESULTS: Twenty-five patients (median age at insertion 7 years, range 1.5-13.8 years) were identified. Median follow-up was 18 months. The commonest symptoms were photophobia, soreness and blepharospasm, and the commonest sign was punctate epithelial erosions. Concurrent systemic disease was present in 18/25 patients. Repeated procedures were carried out in eight of 25 patients. Twenty-four of 35 insertions were performed under general anaesthesia. A substantial improvement in ocular surface disease was noted in all cases: frequency of lubricant use was reduced in eight of 25 and visual acuity improved in 15/25 patients. Spontaneous extrusion was the commonest complication and occurred within 6 months in 19% of cases. CONCLUSION: Dry eye syndrome in children is often accompanied by systemic disease, so in a child with persistent symptoms this should be explored. Punctal plugs offer a safe and effective form of treatment especially as compliance of frequent lubrication is limited in children.

Mediators involved in retinopathy of prematurity and emerging therapeutic targets.

Retinopathy of prematurity (ROP) is a potentially blinding disease of premature infants and despite timely treatment some infants develop retinal detachment and sight loss. Current treatment utilises laser therapy which causes destruction of treated retinal tissue resulting in field loss. There is considerable research work ongoing on neovascular eye disease which is likely to result in antiangiogenic approaches that will arrest the development of ROP by specifically targeting the involved molecular mediators. Some of these new therapeutic interventions have entered clinical trials. This article reviews new information available on the molecular pathogenesis of ROP which may result in novel treatments for ROP; it does not discuss the well-known role of oxygen in the development of ROP.

Unusual toxoplasmic chorioretinitis in advanced age: a diagnostic problem.

PURPOSE: To raise awareness regarding presentation of toxoplasmic chorioretinitis late in life, and to discuss the invasive diagnostic options. PATIENTS/METHODS: Case report. RESULTS: A 62-year-old patient presenting with posterior vitritis and a focus of retinitis was misdiagnosed and treated with antivirals and corticosteroids. Relapse after initial stabilization justified a vitreous tap for culture and DNA detection of a number of infectious agents, leading to the correct diagnosis of T.gondii infection. CONCLUSIONS: Ocular sampling may be necessary to secure timely diagnosis and treatment of atypical retinitis. Acquired ocular toxoplasmosis may be under-recognized as a cause of infectious posterior uveitis and caution should be applied when administering steroids without a definite diagnosis.