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Biomedical subjects

J Dudgeon

Publications and source records attributed to J Dudgeon.

At least 19 recordsLinked to original sources

Contact lens electroretinography in preterm infants from 32 weeks after conception: a development in current methodology.

AIM: To assess the feasibility of using a contact lens electrode to record the electroretinogram (ERG) in preterm infants less than 35 weeks after conception. METHODS: The ERG was recorded from seven very low birthweight preterm infants on a total of 14 occasions using an infant monkey contact lens electrode. Age at recording the first ERG ranged from 23 to 51 days (gestational age 32-34 weeks), and weight ranged upwards from 1100 g. RESULTS: No complications were observed. With advancing age and maturity the dark adapted rod threshold decreased, indicating increased retinal sensitivity. CONCLUSIONS: Contact lens recording of the ERG from extremely small immature preterm infants is a practicable and well tolerated procedure. This method of recording the ERG will enable further evaluation of retinal development in this vulnerable population.

Birth Weight↗

Medulloepithelioma of the optic nerve head.

Medulloepithelioma of the optic nerve is a rare developmental tumor. We describe a 2-year-old boy with profound loss of vision associated with a visible tumor of the optic nerve head in his left eye. A clinically diagnosed retinoblastoma necessitated left eye enucleation. The histopathological diagnosis was malignant medulloepithelioma that was incompletely resected. Further tumor resection was required, and the patient received adjunctive chemotherapy and radiotherapy. Four years after treatment, the patient has neither clinical nor radiological evidence of tumor.

Chemotherapy, Adjuvant↗

Facial swelling in giant cell (temporal) arteritis.

Giant cell (temporal) arteritis is a systemic vasculitis of the elderly. Facial swelling is a rare manifestation of the arteritic process. Delay in recognition of the condition can result in profound loss of vision. This report describes a biopsy-proven arteritic patient who developed anterior ischaemic optic neuropathy (AION) following facial swelling. Both arteritic AION and facial swelling responded to high-dose steroid treatment. Facial swelling in giant cell (temporal) arteritis could be an indicator of risk of AION. Intravenous steroid treatment can lead to salvation of useful vision.

Aged↗

X linked exudative vitreoretinopathy: clinical features and genetic linkage analysis.

A four generation family in which familial exudative vitreoretinopathy is inherited as an X linked condition is described. Essentially the condition is one of abnormal vascularisation and signs at birth are those of a retinopathy superficially resembling retinopathy of prematurity, retinal folds, or, in advanced cases, enophthalmos or even phthisis. Prognosis depends on the progression of the retinal changes. The family members, including seven affected males and five obligate carrier females, have been types for 20 DNA markers, and linkage analysis suggests a gene locus either at Xq21.3 or at Xp11. As the latter region includes the locus for the gene for Norrie disease, it is possible that this and X linked vitreoretinopathy are allelic. We can further speculate that the differences in severity of the clinical manifestations are dependent only upon the timing of the insult.

Adolescent↗

Laryngeal and ocular granulation tissue formation in two Punjabi children: LOGIC syndrome.

Two unrelated children, both born in the United Kingdom of Punjabi Muslim parents, developed within months of birth, nodules in the larynx, conjunctiva and nailbeds. Currently the younger female child, aged five, is developing skin papules while the elder boy, now aged 15, is debilitated by oral, oesophageal and tracheal granulation tissue formation. Numerous biopsies of the affected tissues have revealed subepithelial granulation tissue formation of unknown aetiology. Extensive haematological, biochemical and bacteriological investigations were uninformative as to the cause. Treatment with steroids, dapsone, antituberculous drugs, and local excision failed to control the disease. No description of this condition exists in the international medical literature available to us.

Conjunctival Diseases↗

Reappraisal of the ratio of disc to macula/disc diameter in optic nerve hypoplasia.

The ratio of disc to macula/disc diameter is characteristically increased in eyes with optic nerve hypoplasia. We present the largest reported series of patients with a definitive diagnosis of optic nerve hypoplasia for whom this ratio has been determined. All measurements were made by an independent masked observer. Our results are in accordance with previous reports. A ratio of 2.94 provides a one-tailed upper population limit of 95%. An attempt has been made to correlate optic disc size and visual acuity. In 75% of bilateral cases the eye with the relatively smaller optic disc was found to have a better Snellen visual acuity than the fellow eye. This suggests that additional pathogenic mechanism(s) may have determined the eventual visual outcome in such eyes. Such mechanisms include macular hypoplasia, high refractive error, refractive amblyopia, central scotoma, and optic atrophy.

Adolescent↗

Radiotherapy of choroidal malignant melanomas.

Choroidal malignant melanomas are relatively rare tumours and can have a very long natural history. The management of these tumours is controversial. The results of a study of a small group of patients treated by radiotherapy, either as primary treatment or following local excision or enucleation, are presented here. The value of radical radiotherapy in the management of choroidal malignant melanoma is discussed.

Adult↗

Self-inflicted corneal injuries in children with congenital corneal anaesthesia.

Severe corneal ulceration related to self-inflicted injury in the presence of congenital corneal anaesthesia is described in four boys under 2 1/2 years of age. The ulcers had failed to heal until it was recognised that the children were scratching their own eyes. The application of arm splints allowed rapid healing. Although corneal ulceration is a recognised complication of congenital corneal anaesthesia, this preventable cause of the ulceration has not previously been recognised. In two cases there were isolated recurrences which healed quickly with the reapplication of splints. All four children had good vision initially, and, although there were no overt gross development abnormalities, two had neurological signs on detailed investigation suggesting cerebellar or brain stem malformation and one had unilateral anophthalmos, talipes equinovarus, and patent ductus arteriosus. All the children showed normal intellectual development. Whether the eye scratching behaviour was the primary cause of the ulceration or merely an aggravating factor, the identification of this abnormal behaviour is important in any child with idiopathic corneal ulceration, as even in the presence of congenital corneal anaesthesia the eyes heal quickly with effective splinting of the elbows. It is therefore important to test sensation of the cornea and face and to consider the possibility of self-inflicted injury in children with refractory corneal ulceration, as in our cases there were no other consistent diagnostic features.

Child, Preschool↗

Joubert's syndrome with retinal dysplasia: neonatal tachypnoea as the clue to a genetic brain-eye malformation.

Five children with features of Joubert's syndrome and Leber's amaurosis are described. The presenting symptoms were panting tachypnoea in the newborn, prolonged apnoeic attacks in the neonatal period (in both of identical twins), global developmental delay, and failure to develop vision. Three children had multiple hemifacial spasms, such as have been seen in Joubert's syndrome, and the same three had cystic dysplasia of the kidneys. Necropsy confirmed the retinal and renal pathology, together with agenesis of the vermis and brainstem dysgenesis in the identical twins. It is concluded that a gene for Leber's amaurosis may commonly manifest itself as the specific hind brain malformation underlying Joubert's syndrome. In infants with respiratory irregularities (especially rapid panting), hemifacial spasms, or developmental delay, absence of the cerebellar vermis should be specifically sought by ultrasound and computed tomography, and the electroretinogram measured, whether or not impaired vision is clinically evident.

Blindness↗

The trilateral retinoblastoma syndrome.

We present two cases of bilateral retinoblastoma with intracranial tumour, in the pineal region in one cases and in the suprasellar region in the other. We agree with Zimmerman and others that the intracranial tumour represents ectopic foci of retinoblastoma rather than metastatic spread. We suggest that CT scanning should be part of the assessment of all cases of bilateral retinoblastoma.

Brain Neoplasms↗

Presumed ocular histoplasmosis.

Six patients showing typical manifestations and some rare features of the presumed ocular histoplasmosis syndrome are presented and discussed in the light of present knowledge. Krypton laser photocoagulation was used in one patient with encouraging results. Histoplasmin skin testing was negative in all cases. HLA typing supported the previous findings of an association with HLA B7 but not DRw2. Although the presumed ocular histoplasmosis syndrome is not uncommon outside America the true aetiology of this condition remains obscure.

Adult↗