Medieval women's early involvement in manuscript production suggested by lapis lazuli identification in dental calculus.

During the European Middle Ages, the opening of long-distance Asian trade routes introduced exotic goods, including ultramarine, a brilliant blue pigment produced from lapis lazuli stone mined only in Afghanistan. Rare and as expensive as gold, this pigment transformed the European color palette, but little is known about its early trade or use. Here, we report the discovery of lapis lazuli pigment preserved in the dental calculus of a religious woman in Germany radiocarbon-dated to the 11th or early 12th century. The early use of this pigment by a religious woman challenges widespread assumptions about its limited availability in medieval Europe and the gendered production of illuminated texts.

Visual electrophysiological findings in CHARGE syndrome with bilateral colobomas: a case report.

Colobomas are the major ophthalmic manifestation of CHARGE syndrome. Ophthalmological advice may be sought for an infant diagnosed with CHARGE syndrome presenting with coloboma, and electrophysiology can be particularly useful in assessing retinal and cortical function at an early age. Here we describe electrophysiology findings in a four-week-old infant born with bilateral coloboma, more extensive in the right eye, as part of CHARGE syndrome. The left eye showed robust ERGs indicating near-normal rod and cone function. The right eye ERG amplitudes were relatively reduced being around one half to two-thirds that of the left eye ERGs. Flash VEPs were present from both left and right eyes, but the right eye VEP was smaller and delayed relative to that of the left eye. By 5 years of age, right eye acuity was approximately 6/1000 and left eye acuity was 6/12 (Cardiff cards). In cases such as this, it is helpful to give parents a reasonable prediction of visual outcome as soon as possible, allowing instigation of appropriate management and permitting parents to begin to come to terms with the diagnosis. Electrophysiology can provide valuable information on visual function when behavioural testing is limited by the child's ability to co-operate, such as during the early weeks of life.

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.

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.

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.

Visual loss in infantile osteopetrosis.

Osteopetrosis should be considered in an infant with unexplained visual loss. In particular, the possibility of this diagnosis must be intimated to the radiologist involved in the investigation of the child.

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.

A case of developmental glaucoma presenting with abdominal colic and subnormal intraocular pressure.

A healthy baby boy presented with abdominal colic. He was subsequently noted to have enlarged, edematous corneas. A clinical diagnosis of developmental glaucoma was made despite ocular hypotony. Trabeculectomies were designed to include peripheral cornea. This served as a biopsy to confirm the diagnosis and as a surgical treatment for the condition. Morphological examination of the outflow system revealed findings compatible with a diagnosis of developmental glaucoma: a hypoplastic trabecular meshwork which contained an abundance of abnormal collagenous tissue in the extracellular spaces and the presence of endothelial cells overlying a continuous collagenous membrane. In the iris stroma there were numerous abnormal blood vessels, with a paucity of mural contractile cells.

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.

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.

Congenital cytomegalovirus infection: a cause of sensorineural hearing loss.

Prospective studies have suggested that about 108 children with congenital cytomegalovirus (CMV) infection and bilateral sensorineural hearing loss are born each year in England and Wales; this represents about 12% of all children with congenital sensorineural hearing loss. Over a nine year period 1644 children aged between 6 months and 4 years who were attending the Nuffield Hearing and Speech Centre were screened for CMV infection. The prevalence of CMV in the urine of children with sensorineural hearing loss but no immediate family history of deafness was nearly twice that (13%) found in other children with impaired hearing and those with normal hearing (7%). These findings indicate the importance of CMV as a cause of hearing loss.

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.

Orbital rhabdomyosarcoma: improved survival with combined pulsed chemotherapy and irradiation.

Three cases of embryonal orbital rhabdomyosarcoma are presented in which two cases had intracranial extension. All three are alive and well on follow-up several years after completing a 12-month course of combined pulsed chemotherapy and irradiation. The improved prognosis even in parameningeal involvement is emphasised.

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.