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Biomedical subjects

Christos Haritoglou

Publications and source records attributed to Christos Haritoglou.

At least 55 records · Page 3Linked to original sources

Spondylo-ocular syndrome: a new entity with crystalline lens malformation, cataract, retinal detachment, osteoporosis, and platyspondyly.

PURPOSE: To define a new clinical entity in a consanguineous family with six children affected by a spondylo-ocular syndrome, including cataract, crystalline lens malformation, retinal detachment, osteoporosis, and platyspondyly. To analyze candidate genes of connective tissue disorders as a possible underlying disorder and to demonstrate especially the ocular phenotype. DESIGN: Observational case series. METHODS: Consanguineous parents, one unaffected sibling and five affected children with clinical features of spondylo-ocular syndrome, were demonstrated. Clinical examination, radiologic, laboratory, and cytogenetic as well as moleculargenetic analyses were performed. The segregation of flanking marker alleles of three collagen genes and the interval for osteoporosis-pseudoglioma syndrome were analyzed. Two microsatellite markers located within Pax6CA/GT region were tested for homozygosity. RESULTS: On laboratory investigation a normal excretion of amino acids, mucopolysaccharides, and oligosaccharides could be found. The karyotype was normal. Complete radiologic examination in one index patient revealed a generalized moderate osteoporosis, platyspondyly with fish bone appearance, and greatly enlarged intervertebral spaces. The candidate genes known to be in Stickler syndrome as well as linkage to the osteoporosis-pseudoglioma syndrome candidate region could be excluded. None of the affected showed homozygosity for the Pax6 microsatellite markers. CONCLUSIONS: We conclude that the phenotype and the clinical features in this family defines a new Mendelian disorder. It remains to be seen what kind of molecule shared by eye and bone is involved.

Abnormalities, Multiple↗

Indocyanine green for successful repair of a long-standing macular hole.

PURPOSE: To report on the successful closure of a persistent chronic macular hole using indocyanine green (ICG) during the second surgical approach. DESIGN: Interventional case report. METHODS: A patient with a long standing macular hole (18 years) underwent pars plana vitrectomy with peeling of the internal limiting membrane (ILM). While no dye was used during the first operation, ICG (0.05%, Pulsion) was applied during the second procedure. The light source was turned off immediately after the ICG application until the dye was washed out after a period of 15 seconds. Tissue harvested during the second surgical approach was prepared for electron microscopy. RESULTS: After the failure of the first operation, areas of incomplete ILM peeling could be stained using ICG and a thorough ILM removal was achieved. Postoperatively, the macular hole was closed, as confirmed by optical coherence tomography. Visual acuity increased from 20/200 to 20/50. No visual field defects were seen postoperatively. There were only few cellular elements adherent to the retinal surface of the ILM as seen during electron microscopy. CONCLUSION: In cases where tractional forces due to incomplete ILM removal are considered responsible for the persistence of a macular hole, ICG is useful to identify areas of unpeeled ILM. Under certain safety precautions no adverse effect on functional outcome was seen.

Aged↗

[Progressive enophthalmos in association with an orbital varix].

BACKGROUND: The orbital varix is a rare congenital disorder. Men and women are equally affected. The disease becomes usually apparent during the third decade of life. PATIENT: A 66-year old women presented with a history of progressive enophthalmos for the last 45 years and complained of intermittent headache and visual deterioration in the left eye. RESULTS: Visual acuity was markedly reduced in the left eye and optic atrophy was present. The enophthalmos was less apparent after bending forward of the upper part of the body. A concentric visual field defect was noted during perimetry, CT revealed severe changes in the orbital walls. CONCLUSION: Enophthalmos in association with an orbital varix is a rare condition and is usually caused by atrophy of the orbital fatty tissue; changes in the orbital walls are less common.

Adipose Tissue↗

Phenotypic variability in three carriers from a family with choroideremia and a frameshift mutation 1388delCCinsG in the REP-1 gene.

PURPOSE: To perform genotype-phenotype correlations in a family with choroideremia. METHODS: A three-generation family with two affected males and five carriers was the subject of the study. Molecular genetic analysis using single-strand conformation polymorphism analysis (SSCP) was conducted in all subjects, while electroretinography (ERG), multifocal ERG (mfERG), scanning laser ophthalmoscope microperimetry (SLO perimetry), fluorescein angiography, and Arden contrast color testing were performed in one male and three carriers. RESULTS: The findings in the affected male were typical for advanced choroideremia. The three carriers demonstrated a variable clinical phenotype including reduction of visual acuity and ERG and angiographic changes in one. Molecular genetic analysis revealed a functional null mutation (1388delCCinsG) in the REP-1 gene. CONCLUSIONS: A severe retinal pathology was found in the affected male, indicating that the 1388delCCinsG is a severe mutation. Varying phenotypes were present in the three carriers examined. The phenotype in carriers has been explained by random X-inactivation with varying expression of the inactivated and activated gene copy inside the same cell of both the retinal pigment epithelium and the rods. This thesis is in agreement with the clinical data obtained here.

Adaptor Proteins, Signal Transducing↗

Retinal damage from indocyanine green in experimental macular surgery.

PURPOSE: Previous work has shown that indocyanine green (ICG)-assisted peeling of the inner limiting membrane (ILM) may cause retinal damage. In this study, a toxic and a photodynamic effect of ICG at the vitreoretinal interface was assumed. METHODS: Ten human donor eyes were hemisected, and 0.05 mL of 0.05% ICG was poured over the trephined macula in eight eyes. After 1 minute, the dye was drained by irrigation. The macula in each of two eyes was illuminated for 3 minutes with wavelengths of 380 to 760, 380 to 620, or 620 to 760 nm. Two eyes were treated with ICG only, and two eyes were illuminated only. Retinal specimens from the macula and the untreated retina were processed for light and electron microscopy. The irradiance of the light source and the absorption properties of ICG were measured. RESULTS: Exposure of the ICG-stained ILM to wavelengths beyond 620 nm resulted in severe damage to the inner retina, including loss of ILM, cellular disorganization, and fragmentation of the cytoplasm. ICG staining alone or in combination with wavelengths of 380 to 620 nm disclosed rupture of Müller cells with detachment of the ILM, but no other cellular disorganization. Eyes subjected to illumination only showed no abnormalities. CONCLUSIONS: The spectral absorption properties of ICG may account for a possible photodynamic effect of ICG at the vitreoretinal interface. ICG alone induces ILM detachment and disruption of Müller cells even without intentional peeling of the membrane. It is assumed that accumulation of the dye at the vitreomacular interface may enhance the concentration and osmolarity of ICG at the retina beyond intravitreous values and critical limits.

Adolescent↗

Light-absorbing properties and osmolarity of indocyanine-green depending on concentration and solvent medium.

PURPOSE: To evaluate the absorption spectrum and osmolarity of three currently used indocyanine green (ICG) products at different concentrations and with different solvent media. METHODS: The absorption spectrum and osmolarity of three different ICG products (Pulsion, Munich, Germany; Akorn, Buffalo Grove, IL; and Laboratoires SERB, Paris, France) were analyzed. Each ICG was further diluted with balanced salt solution or glucose 5%. Four different concentrations were evaluated: 0.005%, 0.0025%, 0.001%, and 0.00025%. ICG (Pulsion) diluted in viscoelastic material (Healon; Pharmacia, Stockholm, Sweden) was analyzed at a concentration of 0.0025%. The following parameters were measured: absorption spectrum between 400 and 1000 nm, osmolarity, and the emission spectrum of the light source of a commonly used vitrectomy machine (Megatron; Geuder, Heidelberg, Germany). RESULTS: Independent from the manufacturer, concentrations of 0.005%, 0.0025%, and 0.001% ICG diluted in balanced salt solutions (BSS and BSS Plus; Alcon Pharmaceuticals, Fort Worth, TX) and glucose 5% showed two maxima, one at approximately 700 nm and a second one at 780 nm. There was an increase from zero to maximum absorption between 600 and 700 nm and a return to zero between 800 and 900 nm. The absorption band of ICG diluted in the viscoelastic material was similar to the saline solution (BSS or BSS Plus)-diluted ICG. At lower concentrations of 0.001% or 0.00025%, the peak at 700 nm decreased, forming a shoulder in the curve, whereas the peak at 780 nm remained stable. Osmolarity was in the range of 302 to 313 mOsM for BSS Plus-diluted ICG. When glucose 5% was used for ICG dilution, absorption between 600 and 700 nm decreased, and osmolarity was lower (between 292 and 298 mOsM). The light source emission was between 380 and 760 nm. CONCLUSIONS: Dilution of ICG using the balanced salt solutions BSS or BSS Plus resulted in a steep increase of absorption starting at 600 nm. In clinical practice, there is an overlap between the absorption band of ICG and the emission curve of the light source, resulting in a possible photosensitizing effect, especially at higher ICG concentrations. This effect becomes less likely with decreasing ICG concentrations or when glucose 5% is used as a solvent medium.

Absorption↗

Long-term follow-up after macular hole surgery with internal limiting membrane peeling.

PURPOSE: To report long-term anatomical and functional results after pars plana vitrectomy with peeling of the internal limiting membrane (ILM) for idiopathic macular hole. DESIGN: Prospective, nonrandomized, consecutive series. METHODS: Ninety-nine patients with a follow-up of at least 12 months were included. The surgical technique consisted of a standard pars plana vitrectomy, removal of the ILM, and an intraocular gas tamponade (15% hexafluoroethane [C(2)F(6)] gas mixture) followed by head-down positioning for at least 5 days. Follow-up examinations included a clinical examination, Goldmann perimetry, optical coherence tomography, and static microperimetry using a Rodenstock scanning laser ophthalmoscope (SLO-105). Stimulus size was 0.2 degrees (Goldmann II), intensities employed were 0 and 12 dB. Twenty-degree fields were used for all tests. RESULTS: Mean period of review was 32 months (median 34). Anatomic closure was achieved in 86 (87%) of 99 patients by one surgical procedure. Nine patients underwent a successful second operation with an improvement of visual acuity in 7 patients. The closure rate after two surgical interventions was 96%. Best-corrected visual acuity improved from a median of 20/100 preoperatively to a median of 20/40 postoperatively (P <.001). An improvement of visual acuity was achieved in 94% of patients. In 13 of 99 patients (13%) a combined vitrectomy and cataract surgery with intraocular lens implant was performed; 72 patients (73%) underwent cataract surgery later. Ninety of 99 patients (91%) were pseudophakic on last presentation. Paracentral scotomata did not change in size, density, or shape over time. Its incidence was not correlated with the stage of the macular hole. No postoperative epiretinal membrane formation or late reopening of the macular hole was observed. One patient presented with a peripheral visual field defect after vitrectomy. CONCLUSIONS: Macular hole surgery with peeling of the ILM without the use of adjuvants or ILM staining leads to good functional long-term results. Paracentral scotomata remained subclinical in most cases and may be due to a mechanical trauma of the nerve fiber layer.

Aged↗

Indocyanine green-assisted peeling of the internal limiting membrane in macular hole surgery affects visual outcome: a clinicopathologic correlation.

PURPOSE: To report the ultrastructure of the internal limiting membrane (ILM) after macular hole surgery with indocyanine green (ICG) staining and to investigate an association with the postoperative functional outcome. DESIGN: Retrospective, noncomparative analysis of a consecutive case series. METHODS: Twenty eyes of 20 patients after macular hole surgery with ICG staining were included. Visual acuity and Goldmann perimetry were obtained before and after surgery. The ILM was obtained during three-port pars plana vitrectomy for idiopathic macular hole. Twenty-five milligrams of sterile ICG powder was dissolved in 5 ml of sterile water as recommended by the manufacturer and then diluted in balanced salt solution. The ultrastructure of the ILM was analyzed using light and transmission electron microscopy. Osmolarity and pH of the ICG solution were measured preoperatively. RESULTS: There was no statistically significant improvement of postoperative visual acuity after ICG-assisted peeling (P =.755). In seven patients, postoperative visual field defects occurred. Indocyanine green-stained specimens revealed cellular elements resembling the plasma membrane of Müller cells and other undetermined retinal structures adherent to the retinal side of the ILM. Histologic findings disclosed no difference between patients with and without visual field defects after the use of ICG. The osmolarity of the ICG solution applied was 275 mOsm; pH was 7.5. CONCLUSIONS: Intravitreal application of ICG may cause retinal damage by altering the cleavage plane to the innermost retinal layers. That may result in less improvement of visual acuity and unexpected visual field defects. The underlying mechanisms of action remain unclear and are the subject of ongoing investigations.

Aged↗

[Pyogenic granuloma of the lacrimal sac].

BACKGROUND: Pyogenic granulomata belong to the group of inflammatory pseudotumours. They consist of granulation tissue usually following inflammatory processes or trauma. PATIENT: We report on a 86-year old female suffering from chronic dacryocystitis. In the course of the treatment exstirpation of the lacrimal sac was performed. The removed tissue was analysed histologically. RESULTS: Histological examination revealed a dense lymphoplasmacellular infiltration underlying the epithelium of the lacrimal sac. A mushroom-like tumour rising into the lumen of the lacrimal sac could be observed. This tumour consisted of capillaries and a dense inflammatory infiltrate. The findings were consistent with a pyogenic granuloma of the lacrimal sac. CONCLUSION: Pyogenic granulomata usually arise in the conjunctiva as a sequel of chronic lipogranulomatous inflammation. They are very rare in other areas such as the lacrimal drainage system.

Aged↗

[Mutations in the ABCA4 gene in a family with Stargardt's disease and retinitis pigmentosa (STGD1/RP19)].

BACKGROUND: Demonstrating the types of ABCA4 mutations in the STGD1 gene in a family manifesting both Stargardt's disease and retinitis pigmentosa (RP19). METHODS: Clinical ophthalmological examination included funduscopy, ERG, Arden Colour contrast test, fluorescein angiography in one patient, perimetry and SLO perimetry. The 50 exons of the ABCA4 gene were screened using a combination of denaturating gradient gel electrophoresis (DGGE), high performance electrophoresis (dHPLC) and SSCP analysis. RESULTS: Patient I/1 showed typical signs of Stargardt's disease, while her son, II-1 demonstrated functional signs and morphological features of retinitis pigmentosa. Mutational analysis of the ABCA4 gene revealed a missense mutation in exon 42 (G5882G > A) and a frameshift mutation in exon 43 (5917delG) of patient I-1. Patient II/1 demonstrated a homozygous 5917delG mutation in exon 43, resulting in a functional null-mutation. CONCLUSIONS: The combination of ABCA4 alleles with various functional consequences to protein activity can lead to different clinical phenotypes in one and the same family, resulting either in typical Stargardt's disease or in autosomal recessive retinitis pigmentosa (RP19).

ATP-Binding Cassette Transporters↗

Pulsed electron avalanche knife in vitreoretinal surgery.

PURPOSE: To evaluate the advantages, disadvantages, safety, and surgical applicability of the pulsed electron avalanche knife (PEAK-fc), a new electrosurgical knife for "cold" and tractionless cutting, in vitreoretinal surgery. PEAK-fc is equipped with an integrated fiberoptic that makes bimanual procedures in intraocular surgery possible. METHODS: A prospective consecutive trial of 18 eyes in 18 patients who underwent vitreoretinal surgery for proliferative diabetic retinopathy, proliferative vitreoretinopathy, subretinal macular hemorrhage, or macular pucker was performed. The following specific maneuvers were performed with PEAK-fc: transection of epiretinal membranes, retinotomies, retinal vessel coagulation, and posterior membranectomy. RESULTS: Detached and attached retina could be dissected successfully in eight cases. Intraoperatively, incision edges were sharply demarcated, showing no visible collateral damage. Deeper layers than the neurosensory retina were not affected. With the bimanual approach, epiretinal avascular and vascular membranes could be removed in 10 cases. Hemorrhages occurring during transection of vascularized membranes could be stopped immediately using the coagulation mode of PEAK-fc. Posterior capsule fibrosis was successfully excised in one patient. No complications were observed. CONCLUSION: PEAK-fc offers precise and tractionless tissue cutting during ocular surgery. Using different waveform parameters, the same device performs cold cutting and/or "hot" coagulation, thus improving the precision, safety, and ergonomics of vitreoretinal surgery.

Aged↗