Syndromic chorioretinal coloboma associated with heterozygous de novo RARA mutation affecting an amino acid critical for retinoic acid interaction.

Retinoid acid receptors (RAR) are transcription factors that bind retinoic acid (RA), a metabolite of vitamin A. RARs are composed of three subunits encoded by RARA, RARB and RARG. In humans, RARB defects cause syndromic microphthalmia.

Central nervous system tumour diagnosis in pediatric population – the role of an ophthalmologist and the utility of visual evoked potentials.

Objective: To determine possible alterations of P100 and P1 amplitudes and latencies in school-aged children with a history of a central nervous system tumour. Material and methods: The pattern visual evoked potential and flash visual evoked potential testing was performed in 42 school- -aged children: 15 patients with a history of the central nervous system tumour (mean age of 13.44 ± 2.

[Evaluation of macular structure and thickness using spectral optical coherence tomography SOCT Spectralis in children after prior laser photocoagulation performed due to the retinopathy of prematurity].

Objectives: To evaluate morphobiometric properties of the macula (its structure and thickness) in children with a known history of retinopathy of prematurity using optical coherence tomography (SLO/OCT Spectralis).

Material And Methods: 16 subjects (group B1) (mean age 9.2 years) with a history of stage 3 retinopathy of prematurity treated with retinal laser photocoagulation and 18 subjects (group B2) with a history of spontaneously regressing retinopathy of prematurity (mean age 10.

Squamous cell carcinoma of the lower eyelid penetrating into the orbit - case report.

The aim of our study is to report a case of pigmented squamous cell carcinoma of the palpebral conjunctiva referred to our clinic because of eye pain. A 86 year old patient suffering from eye pain due to a lower right eyelid tumour was admitted to our department. The basic ophthalmic examination and CT scans of orbits were performed.

Paediatric normative data for urine NGAL/creatinine ratio.

Aim: The objective of this study was to establish age-dependent urine NGAL (neutrophil gelatinase-associated lipocalin)/creatinine ratio values in healthy children and adolescents.

Methods: The study was performed using a random sample of 172 healthy children and adolescents (M-88, F-84), aged median 9.75 (0.

[Assessment of retinal ganglion cells thickness in high myopia].

Purpose: Studies on glaucoma markers have shown that assessment of thickness macular ganglion cell complex plays an important role in diagnosis of early stage open-angle glaucoma. There are no available data on thickness in ganglion cell complex in high myopic patients. We investigate thickness of macular ganglion cell complex in children with high myopia.

[Idiopathic intracranial hypertension and organ of vision].

Idiopathic intracranial hypertension (IIH) is defined as a syndrome of increased intracranial pressure without causative lesions on magnetic resonance imaging. The symptoms of IIH patients are headache, transient visual obscurations, photopsia, retrobulbar pain, diplopia, visual loss and papilledema. Management of intracranial hypertension is initially medical, using a combination of managed weight body reduction and diuretic, non-steroid and steroid therapy.

[Macular morphology and peripapillary retinal nerve fiber layer thickness in children with regressed retinopathy of prematurity].

Purpose: morphobiometric evaluation of macula and peripapillary retinal nerve fiber layer thickness with the use of high-resolution optical coherence tomography in children with a history of regressed retinopathy or prematurity.

Materials And Methods: 18 patients at the age of 8 to 14 years with a history of spontaneously regressed retinopathy of prematurity were studied prospectively. For statistical purposes a control group of 21 matched subjects at the age of 8 to 15 years was used.

[Assessment of macular and optic disc morphology in children with unilateral hypermmetropic amblyopia].

Purpose: To investigate macular thickness and retinal nerve fiber layer thickness of the optic disc using high resolution spectral optical coherence tomography.

Material And Methods: A study group consisted of 54 eyes of children aged from 5 to 13 years with unilateral hypermmetropic amblyopia. 25 children aged from 6 to 14 years with emmetropia or mild hyperopia (SE less than +1.

[Evaluation of anterior chamber depth measurements in emmetropic, hypermetropic and myopic eyes in children and adolescents using OCT Visante].

Purpose: To evaluate the anterior chamber depth (ACD) measurements in emmetropic, hypermetropic and myopic eyes in children and adolescents using optical coherence tomography (OCT).

Material And Methods: 86 patients at the age from 4 to 17 years were examined. 27 patients with mean age 14.

[Optical coherence tomography in diagnosis of intracranial hypertension in children].

Unlabelled: Intracranial hypertension (IH) is important cause of optic disc edema. It is essential to distinguish the primary and secondary causes of IH. Persistent increasement of intracranial pressure over 200-250 mmH2O is caused by impairment of the balance between production and absorption of cerebrospinal fluid.

[Optic nerve head drusen in children--visual function and OCT outcomes].

Purpose: To evaluate the effect of optic nerve head drusen on retinal nerve fiber layer (RNFL) thickness in children, with the use of optical coherence tomography (OCT).

Material And Methods: 21 patients (mean age 13.9 years) with optic nerve head drusen were studied prospectively.

[Estimation of morphology and function of the eye in Usher's syndrome].

Purpose: Retinitis pigmentosa (RP) is a set of heterogenous retinal diseases that affect primarily photoreceptors and retinal pigmented epithelium. The Usher's syndrome (RP associated with hearing impairment or loss), is responsible for about 10-20% of all cases. We investigate macular morphology using spectral domain optical coherence tomography in correlation with visual function.

[Ergonomics in computerized workplace--an ophthalmological view].

Ergonomics in computerized workplace contributes to create special environmental conditions depending on people's needs and possibilities. Ergonomically created room with accurate type of lighting, temperature and humidity, furniture and location of PC unit and monitor is essential to avoid symptoms of computer stress syndrome.

Assessment of visual function in children with foldable intraocular lens implants.

Purpose: The aim of the current study was to assess the results of cataract surgery involving implantation of foldable intraocular lenses in children.

Material And Methods: Cataract surgery with foldable lenses was performed in 60 children. Postoperative visual acuity, endothelial cell density, corneal pachymetry, postoperative astigmatism and complications were analyzed.

[Clinical features, the effectiveness of treatment and function of vision organ in children and adolescents with ocular toxocariasis].

Purpose: Toxocariasis is caused by Toxocara canis, the intestinal nematode commonly found in dogs. Patients are mostly young children, with an average age of 7.5 years.