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Biomedical subjects

H Kiratli

Publications and source records attributed to H Kiratli.

At least 37 records · Page 2Linked to original sources

Bilateral papillomacular retinal folds and posterior microphthalmus: new features of a recently established disease.

Clinical findings of a 2.5-year-old girl presenting with barely detectable horizontal nystagmus and high hypermetropia are described. Despite the normal appearing anterior segments, the child had posterior microphthalmus and bilateral papillomacular retinal folds, conforming to a recently described, rare congenital disease. The patient also had significant posterior pole excyclorotation and avascular zones at the extreme temporal periphery without ridge formation or neovascularization. These findings were not reported previously. Other remarkable features include mildly depressed photopic and scotopic electroretinogram amplitudes and a short axial length of the vitreous cavity compared to age-matched normals, measured by ultrasonography. The present case adds new elements to this relatively rare ocular developmental abnormality.

Child, Preschool↗

Primitive neuroectodermal tumor of the orbit in an adult. A case report and literature review.

OBJECTIVE: The authors describe the salient clinical, radiologic, and histopathologic features of an orbital primitive neuroectodermal tumor in a 28-year-old man. This is an extremely rare tumor of the orbit, previously reported exclusively in children. DESIGN: Case report. INTERVENTION: Excisional biopsy of the tumor en bloc was performed. MAIN OUTCOME MEASURES: Histopathologic examination was performed by standard techniques and immunohistochemical stains on formaldehyde-fixed, paraffin-embedded tumor tissues. RESULTS: Histologic examination of the sections of the tumor showed small, blue, round cells with occasional Homer-Wright rosette formations. The tumor cells stained positively with neuron-specific enolase and vimentin. CONCLUSIONS: This newly recognized, highly unusual peripheral primitive neuroectodermal tumor should be considered in the differential diagnosis of hypercellular, small, round cell tumor of the orbit in adults.

Adult↗

Management of traumatic luxation of the globe. A case report.

PURPOSE: To report the management of a patient who had LeFort type III fractures and traumatic luxation of the globe with avulsion of the optic nerve and all extraocular muscles except for the medial rectus. METHODS: Eight hours after the trauma, the detached and retracted superior and lateral recti muscles could be found and sutured to their original insertions. The inferior rectus could not be retrieved. RESULTS: Although the left eye had no light perception, most of its motility was restored resulting in an unblemished cosmesis. CONCLUSION: Avoiding primary enucleation helped to alleviate the psychological burden of the trauma on the patient. In case of the eventual development of phthisis bulbi, the patient will have a chance to be fitted with a prosthesis over his own eye with a resulting better motility.

Accidents, Traffic↗

Agenesis of the corpus callosum in a child with Leber's congenital amaurosis.

A 2.5-year-old male infant with agenesis of the corpus callosum and Leber's congenital amaurosis is described. The infant had nystagmus as the presenting sign. The fundi showed circumscribed macular atrophy with encircling retinal pigment epithelial hyperplasia (macular coloboma-like lesions), attenuation of the retinal arterioles, and very fine pigment dusting in the peripheral retina. Photopic and scotopic ERG were extinguished. Even though this is an exceedingly rare association, these findings along with neurological symptoms should alert the physician to conduct prompt cranial imaging.

Agenesis of Corpus Callosum↗

Visualization of orbital retinoblastoma with technetium-99m (V) dimercaptosuccinic acid.

The potential contributions of technetium-99m (V) dimercaptosuccinic acid scintigraphy in the evaluation of orbital retinoblastoma, its local extensions and metastases were assessed in this study. Both planar and SPECT images clearly demonstrated the primary tumor and metastatic sites. Following confirmation of our results by contemporaneous ultrasonography, MRI and a subsequent incisional biopsy, the patient was treated with external beam radiotherapy and chemotherapy. This preliminary study showed that in combination with other diagnostic tests, Tc-99m (V) DMSA scintigraphy may play a role in the detection and follow-up of the local tumor extensions and metastases in patients with retinoblastoma.

Biopsy↗

Percutaneous treatment of an orbital hydatid cyst: a new therapeutic approach.

PURPOSE: To describe the percutaneous treatment of an orbital hydatid cyst as an alternative approach to conventional surgery. METHODS: In a 21-year-old man with diplopia and right proptosis, radiologic studies disclosed a 25 x 25 x 20-mm purely cystic mass in the right retrobulbar area. Based on the presumptive diagnosis of hydatid cyst, the cyst was treated percutaneously under ultrasonographic guidance with aspiration, 15% hypertonic saline injection, and reaspiration without any complication. RESULTS: A substantial decrease in the size of the cyst was observed in the 3 months after treatment. Nine months after treatment, the shrunken cyst had a volume of only 0.5 ml, and the patient was asymptomatic. Twenty-one months after the procedure, the findings were consistent with those at 9 months of follow-up. CONCLUSION: Percutaneous treatment of orbital hydatid cysts, which is more satisfactory to both the patient and the physician, may be a safe and effective alternative to surgical extirpation.

Adult↗

Management of massive orbital involvement of intraocular retinoblastoma.

OBJECTIVE: This study aimed to evaluate various combinations of therapeutic approaches in an attempt to improve the poor outcome of advanced cases of orbital involvement of intraocular retinoblastoma. DESIGN: The study design was a retrospective, uncontrolled descriptive case series of consecutive patients with massive orbital retinoblastoma treated and observed at a referral center. PARTICIPANTS: Sixteen patients with unilateral orbital involvement of intraocular retinoblastoma were studied. Eight patients had orbital involvement at initial presentation and eight children presented with orbital tumor after enucleation for intraocular retinoblastoma. Patients having microscopic evidence of tumor invasion at surgical section of the optic nerve and subsequently receiving other forms of treatment were not included in the study. INTERVENTION: Six patients had orbital exenteration followed by external beam radiation therapy (4600-6000 cGy in fractionated doses) and chemotherapy. Five patients received chemotherapy only. Three patients were treated by exenteration and chemotherapy, whereas two patients underwent radiation therapy and chemotherapy. MAIN OUTCOME MEASURES: Tumor regression monitored by clinical observations and imaging studies and patient survival was studied. RESULTS: The median follow-up was 22 months (range, 4-168 months). All forms of treatment caused satisfactory local and systemic tumor regression. Two children achieved a survival of more than 10 years. However, two patients in the exenteration followed by chemotherapy and radiation therapy group and one who received chemotherapy only had central nervous system metastases develop and died. Only one patient was lost to follow-up. CONCLUSION: Highly individualized aggressive treatment by combining radical surgery, chemotherapy, and external beam radiation therapy allowed most of the authors' patients to have longer survival and disease-free intervals than expected.

Chemotherapy, Adjuvant↗

Retinoblastoma with acute lymphoblastic leukemia, polyposis coli, and multiple hamartomas.

It has long been recognized that compared with their age- and sex-matched controls, survivors of hereditary retinoblastoma have a considerably higher risk of the development of second malignancies (10% at 20 years and 15% at 30 years of follow-up), including osteosarcoma, leiomyosarcoma, melanoma, fibrosarcoma, and other rare spindle cell sarcomas. Patients with the nongenetic variety of retinoblastoma do not particularly seem to have an increased incidence of other malignancies than the general population. However, it should be noted that a child with unilateral disease carries a 15% chance of having germline mutation. The cumulative mortality rate from second malignancies was 1.5% at 40 years after unilateral retinoblastoma diagnosis and 26% for bilateral cases in a large survey of 1458 patients. A child with unilateral retinoblastoma, café au lait spots, hairy nevus, and grouped pigmentation of retina in the fellow eye is described who furthermore developed acute leukemia and polyposis coli.

Adenomatous Polyposis Coli↗

Prolidase deficiency associated with pathologic myopia.

Deficiency of prolidase, a key enzyme in proline metabolism, is extremely rare and is usually associated with skin lesions, recurrent infections, characteristic facies, mental retardation, and splenomegaly. These clinical features are largely due to inhibition of normal recycling of proline, which causes an alteration in the metabolism of collagen and other proline-rich proteins. The case of a 25-year-old with all the recognized characteristics of prolidase deficiency is reported. Pathologic myopia, which has not been hitherto described in association with prolidase deficiency, is added to the clinical spectrum of this rare disorder.

Adult↗

Multiple orbital intraosseous hemangiomas.

The case of a 36-year-old healthy, asymptomatic man who was monitored for a slowly growing subcutaneous mass under his right inferior orbital rim for more than ten years is presented. The mass was hard, immobile, and nontender. Computed tomography (CT) documented a lytic lesion at the frontal process of the right maxilla. Four years later, magnetic resonance imaging (MRI) of the orbits revealed distinct lesions in the right zygoma, maxillary, and greater wing of the sphenoid bones. These lesions were hypointense with respect to orbital fat on T1-weighted images and hyperintense on T2-weighted series. There was moderate enhancement after contrast agent administration. These findings combined with the clinical features of the patient were suggestive of presumed multiple orbital intraosseous hemangiomas. Differential diagnosis between other osseous tumors of the orbit can be reasonably made based on imaging characteristics.

Adult↗

Technetium-99m (V) dimercaptosuccinic acid uptake by choroidal melanoma before and after iodine-125 brachytherapy.

PURPOSE: The value of the new tumour-seeking agent technetium-99m (V) dimercaptosuccinic acid (99mTc (V) DMSA), is assessed by the visualization of choroidal melanoma before and after iodine-125 episcleral plaque brachytherapy. METHODS: A prospective study was conducted on 12 consecutive patients with choroidal melanoma that was to be treated with plaque brachytherapy. The pre-operative mean (+/- SD) maximal tumour basal diameter was 12.9+/-2.9 mm and the mean tumour height was 8.2+/-2.9 mm. Each patient had planar scintigraphy and single-photon emission computed tomography using 99mTc (V) DMSA 2 days before treatment and 8 months following plaque removal. The calculated tumour to background ratios of these two tests were compared. RESULTS: The pre-operative tumour to background ratio was 1.8+/-0.4 and all tumours could be correctly identified. At the time of postoperative imaging, all melanomas showed varying degrees of regression. The mean tumour height was 4.4+/-2.1 mm. The tumour to background ratio was 1.4+/-0.3. The difference between the two scintigraphic results was statistically significant (P = 0.002). CONCLUSIONS: Technetium-99m (V) DMSA scintigraphy can accurately detect choroidal melanoma and document tumour response following episcleral radioactive plaque therapy. As such, this test can be an alternative ancillary investigative tool in the rare event of opaque media or diagnostic uncertainty.

Brachytherapy↗

Management of moderate to advanced Coats' disease.

Sixteen patients (16 eyes) with Coats' disease who had either total bullous exudative retinal detachment or macular involvement and/or at least two quadrants of exudative retinal detachment were followed for a mean period of 60.6 months. Three patients with no light perception received no treatment. Ten eyes received cryotherapy on one or more occasions and two had laser photocoagulation. One eye underwent subretinal fluid drainage, intraocular infusion and cryotherapy. In those patients who could be tested, all the treated eyes retained their initial visual acuities. All 16 eyes had an acceptable cosmesis and none progressed to painful neovascular glaucoma or phthisis bulbi. Patients with late onset disease had a more benign course.

Adolescent↗

Visualization of uveal amelanotic melanoma with technetium-99m(V) dimercaptosuccinic acid.

The possibility of using technetium-99m(V) dimercaptosuccinic acid, Tc-99m DMSA, in the evaluation of uveal amelanotic melanoma was assessed in this study. Both planar and SPECT images clearly demonstrated the tumor. Following confirmation of our results by contemporaneous ultrasonography and MRI the patient was treated with Iodine-125 brachytherapy. In combination with other diagnostic tests, Tc-99m(V) DMSA scintigraphy may play a role in the detection of uveal melanoma and its possible systemic metastases.

Adult↗

Paraneoplastic retinopathy associated with metastatic cutaneous melanoma of unknown primary site.

PURPOSE: To describe further the clinical and immunological features of cutaneous melanoma-associated retinopathy, which is an infrequent form of paraneoplastic syndrome. METHODS: We studied the salient clinical and immunological aspects of a 66-year-old man with metastatic cutaneous melanoma to lymph nodes of unknown primary site who developed melanoma-associated retinopathy. RESULTS: There was gradual loss of vision in the left eye. Colour vision and night vision were not affected. Visual fields showed arcuate defects. A full-field electroretinogram demonstrated attenuation of the b-wave amplitude in the left eye. The a-wave was intact. Indirect immunofluorescence techniques showed that the antibody reactions took place mainly in the outer plexiform layer of the retina. CONCLUSIONS: Bipolar cells seem to be the target in melanoma-associated retinopathy. Contrary to previous reports, night blindness may not be a universal finding.

Aged↗