Novel RB1 gene constitutional mutations found in Polish patients with familial and/or bilateral retinoblastoma.

Retinoblastoma is the most common intraocular malignancy in children. It is estimated that 60 percent of cases are nonhereditary and unilateral, 15% are hereditary and unilateral, and 25 percent are hereditary and bilateral. Hereditary predisposition for retinoblastoma is caused by germline mutations in the RB1 gene and is transmitted in an autosomal dominant manner.

[The assessment of urinary glycosaminoglycans (GAG) excretion during therapy of patients with progressive Graves' ophthalmopathy].

Excessive accumulation of hydrophilic glycosaminoglycans (GAG) in the retrobulbar tissue leads to many of the clinical manifestations of Graves' ophthalmopathy (GO). We examined the quantitative urinary GAG excretion in 35 patients with GO. GAG were isolated from 24-h urine collections by precipitation with cetylpyridinum chloride and ethanol according to Bitter.

[Visual evoked potentials in diagnosis and monitoring of optic neuropathy in the course of thyroid ophthalmopathy].

Purpose: To evaluate the usefulness of pattern visual evoked potentials (PVEP) in early diagnosis and monitoring of dysthyroid optic neuropathy (DON).

Material And Methods: We recorded PVEP (UTAS E--1000) in 74 patients with thyroid ophthalmopathy (TO) including 12 patients with clinically evident DON--group I, 13 patients with subclinical DON (prolongation of latency of P100 wave in PVEP)--group II, and 49 patients without clinical or electrophysiological signs of DON--group III. Thirty six healthy subjects served as controls.

Frequency and nature of germline Rb-1 gene mutations in a series of patients with sporadic unilateral retinoblastoma.

Constitutional Rb-1 gene mutations were studied in a series of 17 families with isolated unilateral retinoblastoma patients. Peripheral blood lymphocytes were analysed by karyotyping, Southern blot hybridisation, and 'exon by exon' sequencing. Mutations were detected in 4 (24%) of the investigated probands.

[The influence of treatment of progressive edematous infiltrative ophthalmopathy on intraocular pressure].

Purpose: To evaluate the influence of systemic steroid therapy and retrobulbar irradiation on intraocular pressure (IOP) in patients with infiltrative--oedematous Graves' ophthalmopathy.

Material And Methods: We examined 76 patients divided into 3 groups: I--treated by irradiation only (15 patients), II--treated by irradiation and oral prednisone therapy (26 patients), III--treated by irradiation and intravenous methylprednisolone pulse therapy (35 cases). All patients underwent full ophthalmological examination (including IOP measurement, perimetry and gonioscopy) before, during, immediately after and 2-20 months after treatment.

Age at diagnosis to discriminate those patients for whom constitutional DNA sequencing is appropriate in sporadic unilateral retinoblastoma.

RB1 gene constitutional mutations were studied using 'exon-by-exon' sequencing in a series of 17 patients with sporadic unilateral retinoblastomas. Constitutional de novo germline mutations were detected in 4 patients. The age at diagnosis of retinoblastoma in all these cases was lower (mean 10.

[Neoplasm metastasis to the eye--diagnosis and therapy].

Purpose: The increasing occurrence of neoplastic metastases to the eye encouraged us to present our own observation on this topic.

Material And Methods: We have examined 17 patients with metastatic tumors of the eye (in 6 cases there was bilateral involvement). The group included 11 females and 6 males, aged 43 to 69 years.

[Surgery for retinal detachment in the years 1989-1994].

Purpose: Evaluation of early and long-term results of retinal detachments operated in the recent years.

Material And Methods: 99 eyes of 98 patients were examined. The conventional methods of retinal detachment surgery have been applied, mostly (above 75%) encirclement with subretinal fluid drainage.

[Surgical methods in patients with cataract and myopia].

Purpose: To present own experiences in cataract surgery in myopic eyes.

Methods: 72 eyes of patients, aged 41-84, with 4-year follow-up were analysed. According to the degree of myopia, the patients were divided into 3 groups: MP up to -4.

[VNTR-PCR in diagnosis of inherited Rb gene mutation].

Molecular genetic analysis of DNA by PCR-VNTR was performed in a family with hereditary retinoblastoma presenting some difficulties in pedigree analysis. PCR-VNTR allowed to perform a more accurate counselling in this family. Analysis of the way of transmission, carrier status exclusion (in two persons) and confirmation (in one) was possible only by VNTR-PCR.

The cytological, immunocytochemical and molecular genetic analysis in diagnosis of the neoplasms of the eye, eye adnexa and orbit.

The fine needle aspiration biopsy was performed in 91 patients including 57 cases of retrobulbar tumors done under CT control. All aspirates were cytologically examined. In 21 cases immunocytochemical examination was performed in order to distinguish poorly differentiated neoplasms.

[Implantation of intraocular lens in anterior and posterior chamber from our clinical material].

The authors presented results of 346 cataract extraction with IOL implantation--in 184 eyes anterior and in 162 posterior chamber. The follow-up ranged from 3 months to 6 years (mean 1.6 year).

[Neoplasms of the orbit and ocular adnexa in children--diagnosis and treatment].

Analysis of diagnosis and treatment of the orbit and ocular adnexa in 38 children was made. In 24 cases (63%) benign and in 14 (37%) malignant neoplasms were diagnosed. Among malignant neoplasms there were: 1 melanoma of the conjunctiva, 5 lymphoma, 1 carcinoma sebaceum, 1 pigmentary progonoma, 3 rhabdomyosarcoma, 1 fibrosarcoma and 2 embryonic ganglioma.

[Individual choice of treatment in patients with progressive infiltrative ophthalmopathy in Graves-Basedow disease].

The results of different methods of treatment of infiltrative endocrine ophthalmopathy in 68 patients (52 women and 16 men) aged 28-63 years were evaluated. The analysis of the results indicates that combined treatment with glucocorticoids and tele-cobalt therapy may be considered as the method of choice. In patients with rapidly progressive ophthalmopathy and in patients with inactive peptic ulcer intravenous pulsed glucocorticoid administration may be used instead of oral treatment.

[RFLP-PCR technique for exclusion of carrier status of the mutated Rb gene].

Molecular-genetic analysis of DNA by PCR-RFLP technique in a family with a case of unilateral retinoblastoma was performed. The carrier status of mutated Rb gene in a sister of proband was excluded on the basis of molecular analysis despite unsynonymous pedigree data.

[Ocular symptoms in Wegener's granulomatosis--personal observations].

The authors present 10 patients treated for Wegener's granulomatosis. In 5 of of them (50%) the ocular changes were observed: in 3-infiltration of the orbit, including one case with infiltration of lacrimal ducts, and in 2-the recurrent bacterial conjunctivitis. On the account of the rareness of the disease and its various symptoms, the diagnosis, in some cases, was made fairly late.

[Analysis of early and late results of progressive Graves-Basedow ophthalmopathy treatment with different methods].

The early (immediately after the end of treatment) and late (from 12 to 91, mean 46.3 months after the end of treatment) results of progressive Graves-Basedow ophthalmopathy treatment were evaluated in 71 patients (57 women and 14 men, aged 25-66, mean 47.3 years).

[Titers of antibodies against thyroid membrane antigens in patients with Graves-Basedow disease and progressive infiltrative ophthalmopathy during treatment with glucocorticoids and retro-orbital tissue irradiation].

In 22 patients with progressive endocrine ophthalmopathy (classes 4-6 according to Werner's scale and ophthalmopathy index at least 4 and evidences of infiltrative changes in retro-ocular tissues in computerised tomography, after achievement of euthyroid state) the titers of antibodies against thyroid membrane antigens (ATMA) were determined by Gardas and all. method. Control group consisted of 26 patients with Graves-Basedow disease without clinical signs of ophthalmopathy who were investigated for ATMA before and after conventional methimazole treatment.

[Analysis of early results of combined treatment with glucocorticoids and telecobalt therapy for Graves' disease ophthalmopathy].

Early results of combined use of glucocorticoid administration and irradiation with radioactive cobalt for treatment of oedematous-infiltrative ophthalmopathy associated with Graves' disease have been analyzed in a group of 33 patients including 28 women and 5 men of age between 25 and 66 years (mean age 47.3 years). The combined therapy was a modification of the original method of Bartalena et al.

[Results of the treatment of retinal detachment by intrascleral buckling using the Schepens method].

Fifty two patients (53 eyes) with retinal detachment were operated by Schepens' method with the intrascleral silicone implantation technique, differing from the classical Schepens' method particularly in cerclage operations. The tightening band nearly along its total course (except of the rectus muscles) runs intrasclerally. The authors achieved an anatomical reapposition in 79% of operated cases.

[Late results of goniotrephining using the Elliot-Fronimopoulos method].

One hundred and four eyes were operated in 86 patients: 65 eyes with an open angle glaucoma, 20 eyes with narrow or closed angle glaucoma and 19 eyes with secondary glaucoma. Normalization of the IOP was attained in 72.4 p.

[Pseudotumors of the orbit].

Eighteen patients suspected clinically to have an orbital pseudotumor are described. Besides ophthalmological examination also conventional radiological examination and computer tomography of the orbits and optic nerve canals have been carried out; all the patients exhibited changes in the orbits and 6 also in the nasal sinuses. Cytological examination of the material collected by biopsy has been performed in order to determine the type of the tumor.

[Infiltration of the eyelids and orbit as the first sign of generalized lymphoma].

The authors discusses the clinical signs in patients with tumorous infiltrations. In 11 among 12 persons these signs were the first pathological changes of a systemic condition--malignant lymphoma. Only in one patient one found simultaneously the enlarged peripheral lymphatic nodes++ and the liver.

[Evaluation of the visual system in people having extended contact with fluorine].

Presented are the results of examination of 75 men, workers of the Chemical Works in Police, in whom in the scheme of complex clinical examinations detailed ophthalmological examinations have been carried out. The period of a professional contact with fluor amounted 6-15 years. The examined persons showed a variety of changes; the most important were opacities of the lens capsule, attenuation of the retinal arteries and a pathological record of the ERG.

[Malignant lymphoma of the visual system].

The author describes the pathogenesis, the clinical picture and differential diagnosis of the intraocular lymphomata, of lymphomata of the lids and orbit. She enumerates the essential methods of revealing of these pathological conditions and the principles of the therapeutical procedure.