Multiple ocular coloboma (MOC) in snow leopards (Panthera uncia). Clinical report, pedigree analysis, chromosome investigations and serum protein studies.
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Biomedical subjects
Publications and source records attributed to A Tarkkanen.
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The first 3 patients with pseudophakic retinal detachment referred to the Helsinki University Eye Hospital are presented. All had undergone extracapsular cataract extraction with implantation of an iris-supported IOL in one case and a posterior chamber lens in two cases. All showed proliferative vitreoretinopathy (PVR) varying from Grade C2 to D1 when first examined for retinal detachment 6 to 16 weeks after cataract surgery. The retina was primarily re-attached in all cases, but re-detachment occurred in 2 of the 3 due to progressing PVR. Until now our incidence of pseudophakic retinal detachment is 0.3%.
Three patients showed a growing choroidal melanoma, of them 2 in the only eye. The tumours were treated with Ru106/Rh106 plaques and surrounded by argon or krypton photocoagulation. The patients were followed up for 34-36 months by regular fluorescein angiography. In areas in which the radiation effect was optimal most choroidal and retinal vessels disappeared within 3-6 months. Outside this area occlusion of the vasculature as well as progressing atrophy of the tumour and the overlying retinal pigment epithelium were seen to continue for more than 12 months after treatment. Disappearance of the leaking vessels of the tumour may be the most reliable fluorescein angiographic sign of tumour regression following conservative treatment.
Nerve fibers displaying substance P-like immunoreactivity (SPLI) were demonstrated in a whole human iris-ciliary body preparation using immunofluorescence technique. The SPLI nerves were mainly to be located in the posterior iris stroma beneath the pupillary sphincter muscle.
This report describes the clinical and histopathological studies of an eye 13 months after successful extracapsular cataract surgery and J-loop-type posterior chamber lens implantation. The lens was of PMMA while the loops were made of polypropylene. The corrected visual acuity of the patient was 1.0 and clinically the eye showed no evidence of anterior uveitis. The lower loop was in the capsular bag while the upper loop was embedded in the ciliary body surrounded by chronic foreign body giant-cell inflammatory reaction.
During a 4-year period 22 eyes with rhegmatogenous retinal detachment in children and young adults up to 20 years of age were operated on. This group comprised 6.3 percent of all rhegmatogenous retinal detachments operated on during the same period. In 9 eyes (40.9%) the detachment was due to a direct ocular trauma. In the remaining cases the main etiological factors were: myopia with or without lattice degeneration (5 eyes), retinopathy of prematurity (2 eyes), hereditary vitreoretinal degeneration (1 eye), uveal coloboma (2 eyes), aphakia after congenital cataract (1 eye), sex-linked juvenile retinoschisis (1 eye), and central retinal vein occlusion (1 eye), Conventional surgical procedures using episcleral or intrascleral implants or an encircling band combined with cryotherapy were used. After a follow-up of 7 months to 3.3 years (mean 1.5 years) the retina was flat in 18 cases (82%) and still detached in those with uveal coloboma (2 eyes), hereditary vitreoretinal degeneration (1 eye), and central retinal vein occlusion (1 eye). All traumatic detachments were flat.
Cancer deaths among close relatives of 19 patients with bilateral retinoblastoma were reviewed. Altogether 18 deaths of nonocular cancer were found in 5 families. These constitute 5% of the entire material of 365 relatives. The main types of cancer were stomach (6 cases), bronchial (3 cases), urinary bladder carcinoma (2 cases), as well as 2 cases of reticulosarcoma and 1 of leukemia. The retinoblastoma gene may also be associated with higher incidence of cancer in families of retinoblastoma patients.
A 3-year-old boy presented with a marked right exophthalmos of a few days duration. This was due to a retrobulbar granulocytic sarcoma that was subtotally removed at a lateral orbitotomy. Subsequent studies revealed acute myelogenous leukemia (AML) of FAB-type M2. The orbital tumor disappeared totally after local irradiation and cytostatic treatment. Another granulocytic sarcoma developed 3 months later in the left orbit. It disappeared also during repeated cytostatic induction therapy although only transient hematologic remission was achieved. After 1 month a recurrence of the tumor in the left orbit was noted. The disease progressed without response to treatment and the patient died 11 months after diagnosis.
A 5-month-old healthy boy had bilateral retinoblastoma. The left eye was enucleated and the right eye was successfully treated by external radiation. At the time when this treatment was completed, a large midline tumour mass in the sellar and parasellar areas of the brain was discovered by CT scan. This tumour was also treated by external radiation, but a recurrence was observed after three months. The patient died 11 months from the diagnosis of retinoblastoma. At autopsy the orbits showed no extraocular growth and the treated eye revealed only a scarred tumour. There was no evidence of metastatic disease. The brain tumour resembled pineoblastoma or differentiated retinoblastoma. It is concluded that the case shows all clinical features of 'trilateral' retinoblastoma, which could be confirmed by complete autopsy as well as neuropathological and ophthalmopathological studies.
Human retinoblastoma contains clusters of cells immunoreactive for methionine-enkephalin and methionine-enkephalin-arginine-phenylalanine. Some tumour cells also exhibited methionine-enkephalin-arginine-glycine-leucine-like immunoreactivity. The results are in agreement with those obtained with similar testing of neuroblastoma cell cultures. It is concluded that some human retinoblastoma cells are capable of synthesizing preproenkephalin A or parts of this molecule.
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Pathological amounts of carcinoembryonic antigen (CEA) have earlier been reported in the plasma of patients with retinoblastoma, and it has been suggested that CEA determinations be used in the follow-up of treatment of these patients. In the present study, 47 retinoblastoma specimens from the years 1962-1982 were examined. These specimens represented different clinical and pathological tumour types. Colon adenocarcinomata positive for CEA were used as controls. The laboratory method was a highly sensitive immunohistochemical peroxidase-staining procedure. By this method, CEA was not found in any of the retinoblastomata examined. It is probable that retinoblastoma does not produce CEA, but in theory it may indirectly increase the CEA titre or, on the other hand, be fully independent of CEA. Only after this relationship has been thoroughly clarified can determinations of plasma CEA in patients with retinoblastoma be used in clinical work.
Ninety-two cases of granular corneal dystrophy, most of them belonging to 5 pedigrees are described. The age of manifestation in this Finnish type of granular dystrophy is first in the end of the second decade, and visual acuity is in mean normal through the whole life. An autopsy study showed no changes outside cornea elsewhere in the eyeball. In one family with granular dystrophy, another type of dystrophy, hereditary fleck dystrophy of the cornea, was accidentally found.
Method 'A' ultrasonographic biometry was performed on 23 patients with congenital glaucoma. The axial lengths of these eyes were significantly greater as compared to the 7 fellow eyes with normal intraocular pressures of the same patients and 10 eyes of 5 patients with megalocornea of the same age. Some of the borderline cases showed an increase of axial length during follow-up not attributable to normal growth. After successful surgery an early decrease of the axial length up to 0.8 mm could be seen. The change occurred in post-equatorial measurements. It is concluded that ultrasonographic biometry is a very valuable additional technique for the diagnosis and postoperative follow-up of congenital glaucomas.
Twenty-four consecutive patients with Coats's disease are reported. In 9 cases the blind eye was enucleated because of total exudative detachment of the retina or because of untreatable secondary glaucoma. No treatment had been given. Fifteen patients between 22 months and 52 years of age were managed by argon laser or xenon photocoagulation and/or cryocoagulation. The number of treatment sessions varied from 1 to 9 per patient and totalled 49 sessions. Fluorescein angiography was performed in all cases. In most eyes the arterial system seemed to be more damaged than the venous side. Many arterioles ended in macroaneurysm-like dilatations surrounded by avascular areas or complete vascular closure in more advanced cases. In 11 out of 14 eyes the vision improved after treatment or remained unchanged. The follow-up varied from 1 to 8 years. Persistent and aggressive long-term treatment of Coats's disease is recommended because the prognosis without treatment is poor.
Substance P (SP) immunoreactivity was demonstrated using the indirect immunofluorescence technique in one normal and one retinoblastomatous human retina. In the normal retina SP immunoreaction was located in nerve fibres but not in the neurons in the inner plexiform layer. A similar location was observed in the histologically normal areas of the retinoblastoma sample. SP immunoreactive neurons, probably amacrine cells, were, however, observed in the transitional area between the normal retina and the tumour. The tumour mass, although mainly SP negative, contained clusters of pleomorphic cells with an intense SP immunoreaction. The general distribution of SP immunoreaction in human retina resembles that of other mammals. The positive SP immunoreaction in retinoblastoma cells suggests that the tumour either may have its origin in the amacrine cells or that the retinoblasts are capable of redifferentiating in the direction of the amacrine cell population. The general problems concerning the origin and pathogenesis of retinoblastoma are discussed.
Fine-needle aspiration biopsy was used for the diagnosis of 25 consecutive patients with orbital tumours. CT scan was used to locate the lesion accurately. In two cases of orbital sarcoma and three out of four cases of orbital meningeoma, pre-operative fine-needle biopsy provided the correct diagnosis for proper operative treatment. Post-operative histopathological examination of the tumours proved that the cytological diagnoses had been correct. Two cases were diagnosed as metastatic carcinomas, 4 as malignant lymphomas and 11 as chronic inflammatory lesions. Orbitotomies were performed in 3 cases only, and the cases were managed accordingly with radiation, chemotherapy or corticosteroids. With conservative treatment the results varied from arrest of the condition to total disappearance of the lesion. No complications were encountered as a result of orbital fine-needle biopsies. The procedure is simple, requiring only topical anaesthesia and if proper cytological service is available, invaluable diagnostic information is provided for proper clinical management. It can also be used if recurrence of orbital tumour is suspected and a new mass is seen by CT scan. The method may save the patient from unnecessary exploratory orbital surgery.
Inferior dacryocystorhinostomy is a simple and effective method in the treatment of such cases of congenital dacryostenosis in which conservative treatment and probing have failed and in which the atresia is located at the level of the nasolacrimal duct. The operative technique is described in detail. The series treated by this method consists of 8 patients, 3 of whom showed bilateral stenosis. On 2 patients adenoidectomy was performed in connection with the dacryocystorhinostomy. The follow-up time ranged from 2 to 34 months, and a good result was obtained in 7 cases. In one case the passage produced closed soon after the operation. Endonasal dacryocystorhinostomy was then successfully carried out by West's method. The operative technique described is well suited for patients under two years of age.