Biomedical subjects
E Mustonen
Publications and source records attributed to E Mustonen.
[Intracranial hypertension cannot be excluded with computerized tomography].
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Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.
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Asymmetry of retinitis pigmentosa-related to initial optic disc vasculitis.
A case of highly asymmetric retinitis pigmentosa is reported. Signs of pigmentary retinopathy appeared in the first eye following optic disc vasculitis or neuroretinitis of unknown etiology. Within 2 years the visual field became markedly restricted and the dark adaptation thresholds elevated. Twelve years later this eye was almost blind and the ERG was non-recordable. In the fellow eye, the first pigmentary changes were observed 5 years after the initial presentation, and the progression was slow. Nineteen years after the initial examination the visual field of the less affected eye was constricted to 30 degrees nasally and 60 degrees temporally, the dark adaptation threshold was only slightly elevated, and the full-field ERG was within normal range. It is possible that neuroretinitis or vasculitis of the optic disc caused the earlier onset and the more progressive course of pigmentary retinopathy in the initially affected eye.
Ophthalmic changes in hydrocephalus. A follow-up examination of 50 patients treated with shunts.
Fifty children shunted for hydrocephalus aged 5-17 years underwent a later ophthalmological examination. Corrected vision of 0.9 or less was found in 45 out of 93 eyes; in 21 patients this was the vision of both eyes. Corrected vision 0.3 or less was found in 7 eyes; in 3 patients this was the vision of both eyes. Hyperopia greater than or equal to +2.0 D was found in 20%, myopia greater than or equal to -0.5 D in 13% and astigmatism greater than or equal to 1.0 D in 25.5% of 98 eyes. Clear nystagmus was present in 18% of patients. Heterophoria was found in 20% and manifest horizontal strabismus in 33%, but no paretic squint. The optic disc was considered normal in 36 out of 100 eyes on ophthalmoscopy and in 35 out of 78 eyes on colour photography. Retinal nerve fibre layer photographs showed normal nerve fibres in 49 out of 71 eyes. The Friedmann field was in the normal range in 33 out of 53 eyes, and the Goldmann field was normal in 37 out of 44 eyes. Right homonymous hemianopia was discovered in 2 patients. The Harrington-Flocks field was normal in 17 out of 24 eyes, and 1 patient had left homonymous hemianopia. The HRR test showed a red-green disturbance in 22 out of 71 eyes. The Farnsworth panel D-15 desaturated test was entirely normal in only 4 out of 65 eyes, but the errors were only slight in 48 cases.
Primary, secondary and coincidental ocular complications of Crohn's disease.
Patients with granulomatous enterocolitis, a disorder which can affect the whole alimentary tract, have a 10% chance of having an ocular complication. Experience with 47 patients seen over 20 years found different types of ocular complications. Definition of the type of complication aids in diagnosis and management of both the eye and intestine. Primary ocular complications are those which occur with activity of Crohn's disease and respond to treatment for the Crohn's disease. Secondary ocular complications occur because of some other primary, systemic, or ocular complication. Coincidental ocular complications are unrelated to Crohn's disease.
Neurological findings in patients with pseudopapilloedema with and without verified optic disc drusen.
As part of a clinical examination of 200 patients with pseudopapilloedema with and without verified optic disc drusen, neuroophthalmological examinations were performed in 158, neurological examinations in 117 and electroencephalography in 109 patients. Headache and suspected papilloedema were the most frequent reasons for referral. Headache was one of the complaints in 102 patients. Migraine was diagnosed in 22 and suspected in 3 patients. Epilepsy was present in 9 patients and in addition, 1 patient had had treatment for convulsions in childhood. 2 patients had a pituitary tumour and 1 had a tumour in the hypothalamic region. Various other neurological disorders appeared in small numbers. Abnormalities in electroencephalograms (EEGs) were found in 36 patients. Progressive loss of central visual acuity unexplained by retinal pathology as well as bitemporal and homonymous hemianopic visual field defects and also evidence of papilloedema warrant a neurological examination in patients with optic disc drusen.
Pseudopapilloedema with and without verified optic disc drusen. A clinical analysis I.
A clinical analysis of 200 patients (307 eyes with optic disc drusen, 40 eyes with pseudopapilloedema without verified drusen, 53 normal fellow-eyes) was performed to document the characteristic findings in pseudopapilloedema with and without verified drusen. In 4 eyes optic disc drusen accounted for diminished visual acuity. Papillary or peripapillary haemorrhages were found in 6.1% of 347 eyes. Peripapillary pigment epithelial derangement was present in 29.7% of the eyes, mostly with superficial drusen. Subjective symptoms caused by drusen were very rare. Changes in the appearance of the optic discs with drusen during the years could be documented in 15% of 153 patients. There were 5 patients with pigmentary retinopathy. The most usual of coincident disorders was migraine in 21 patients. The visual field findings are analysed in a companion report.
Pseudopapilloedema with and without verified optic disc drusen. A clinical analysis II: visual fields.
An analysis of visual field findings in the material of 200 patients with pseudopapilloedema with and without verified optic disc drusen was performed. Goldmann and/or Friedmann visual fields were examined in 383 eyes. Visual field defects were found in 38.9% of the pseudopapilloedema eyes without verified drusen, but in 73.4% of the drusen eyes. The strongest field defects were found only in the eyes with drusen seen by oblique illumination or with superficial drusen. The eyes with superficial drusen showed visual field defects in 85.8%. Only 7 patients complained of visual field defects. A progression of visual field defects could be documented in 22% of 118 patients with visual field examinations 2 or more times.
Optic disc drusen--a photographic study. I. Autofluorescence pictures and fluorescein angiography.
As part of an examination of 180 patients with optic disc drusen, autofluorescence pictures had been taken in 116 patients and fluorescein angiograms in 67 patients. The superficial optic disc drusen often show a very bright nodular autofluorescence, but more important is the diffuse, not so intensive autofluorescence that the buried drusen may show. Thus, a diagnosis of hidden drusen can also be made if autofluorescence can be demonstrated. Fluorescein angiography may also reveal the buried drusen that do not show autofluorescence, and it may be of help in the differential diagnosis of pseudopapilloedema from true papilloedema. It may also indicate anomalous vascular patterns that may be associated with optic disc drusen.
Optic disc drusen--a photographic study. II. Retinal nerve fibre layer photography.
As part of an examination of 180 patients with optic disc drusen fundus photographs of 159 cases were evaluated. Twenty-one patients had no fundus photographs, and 12 cases had only autofluorescence pictures, positive colour transparencies or fluorescein angiograms. Peripapillary retinal nerve fibre layer (RNFL) was examined in 147 patients from black-and-white stereo-photographs of the optic disc (116) or from special RNFL pictures (4) or from both (27). Fifty-three of 147 patients had been photographed two or more times during the years from 1967 to 1981. The regional grading of the RNFL was performed separately from 6 sectors around the disc from 386 series of photographs, and the findings were later compared with the patients' visual fields. The eyes with buried drusen usually showed normal RNFL and normal fields, but the visible drusen were often associated with thinning or slits or atrophy of the peripapillary nerve fibre bundles and with visual field defects.
Retinal nerve fibre layer photography with a wide angle fundus camera.
Retinal nerve fibre layer (RNFL) photographs taken with a wide-angle fundus camera (Canon CF-60Z) and its built-in blue interference filter (SE-40) of 495 nm wavelength were compared with pictures taken with the same camera and a red-free absorption filter (Wratten No. 58) as well as with photographs taken with a 30 degrees fundus camera and Wratten No. 58 filter. Comparison showed that the best visualisation of the RNFL and its defects was achieved with the 60 degrees picture angle of the Canon camera and SE-40 filter. With a smaller picture angle (30 degrees) and a filter of longer wavelength quality of reproduction deteriorated.
Changes in optic disc drusen. Demonstration by stereophotographs and electronic subtraction.
As a part of more comprehensive examination of 180 patients with optic disc drusen, fundus photographs of 159 cases were evaluated. There were 70 patients whose optic discs were photographed two or more times during the years from 1967 to 1981. Four patients were selected to present the changes which can take place in optic discs with drusen and the alterations are demonstrated by autofluorescence pictures, stereophotographs, and electronic subtraction method.
[Computed tomography of the orbit].
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Abdominal ultrasonography and computed tomography in von Hippel-Lindau disease.
47 subjects belonging to four families with von Hippel-Lindau disease were examined using ultrasound and computed tomography. The subjects had no abdominal symptoms. At renal examinations carcinomas in two, haemangioma in one and cysts in eight persons were detected. Pancreatic cysts were found in four persons. Ultrasound and computed tomography examinations of the visceral organs are easy, non-invasive and safe for members of families with von Hippel-Lindau disease. An annual ultrasound visceral follow-up examination is advisable to detect manifestations of the disease as these become more common with age. It is especially important to detect and treat renal cell carcinomas as early as possible.
[Optic disc haemorrhages in early glaucoma].
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Optic disc hemorrhages. Analysis of stereophotographs and clinical data of 112 patients.
Examination of optic disc stereophotographs of 1,548 patients with glaucoma or suspected glaucoma revealed a disc hemorrhage in 112 cases. Multivariate analysis showed that disposition of hemorrhages on the disc is related to mean intraocular pressure, even lower levels of which increased probability of bleeding in inferior sectors, which showed hemorrhages more frequently than superior and horizontal sectors. Locations of hemorrhages correlated highly significantly with locations of neural rim notches. Predominance of large optic cups in eyes with normal central visual fields suggests that a genetically determined large cup may be a risk factor in addition to pathologic diurnal variation of IOP, which seemed more important than mean IOP in the development of hemorrhages. Capsular glaucoma was observed more seldom and low-tension glaucoma was observed more often than expected.
Optic disc haemorrhages precede retinal nerve fibre layer defects in ocular hypertension.
Both small splinter haemorrhages of the optic disc and retinal nerve fibre layer (RNFL) defects have been reported to be the first signs of glaucomatous development before visual field defects. In this study their time- and location-based relationship to each other was investigated by means of repeated optic disc stereophotography of 25 patients who showed a disc haemorrhage but no disc and field involvement in their ocular hypertensive eyes. During a mean follow-up time of 6 years, 8 patients developed glaucomatous damage. Their sequential stereo-photographs showed that disc haemorrhages preceded both development and progression of RNFL defects. Location of a defect was accurately predicted by the haemorrhage. In 4 patients the first visual field defects were detected with routine perimetry only 1 to 2 years after the RNFL defects had been observed. Three patients still show normal fields.