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Biomedical subjects

I Russell-Eggitt

Publications and source records attributed to I Russell-Eggitt.

At least 19 recordsLinked to original sources
PubMed1999

Chorioretinal lesions in patients and carriers of chronic granulomatous disease.

OBJECTIVE: To investigate the frequency of retinal lesions in patients with chronic granulomatous disease (CGD) and to seek such lesions in carriers. STUDY DESIGN: Seventy-four individuals from 33 families were recruited; 38 had CGD (30 X-linked and 8 autosomal recessive inheritance). All participants (including 33 control subjects) underwent measurement of visual acuity, anterior segment examination by slit lamp, and dilated funduscopy. RESULTS: Nine of 38 (23.7%) of the affected children had chorioretinal lesions compared with 0 of 33 control subjects. All 9 were known to have X-linked CGD and absent gp91(phox). The "typical" retinal abnormality consisted of "punched out" chorioretinal lesions associated with pigment clumping lying along major retinal vessels. Unexpectedly, 3 XL-CGD asymptomatic carriers also had typical chorioretinal lesions. CONCLUSION: Retinal lesions are relatively common in patients with XL-CGD and may interfere with vision and thus should be sought in such patients.

Adolescent↗
PubMed1999

Visual-evoked potential evidence of chiasmal hypoplasia.

PURPOSE: To show that chiasmal hypoplasia or aplasia need not be an isolated developmental anomaly and to examine the spectrum of associated clinical findings to explore the possibility that these patients may represent a phenotypic manifestation of a developmental gene anomaly. DESIGN: An observational case series. PARTICIPANTS: Five infants, between several weeks and 7 months of age, in whom the electrophysiologic characteristic of chiasmal hypoplasia had been noted were included. METHODS: Flash electroretinography and flash and pattern visual-evoked potentials (VEPs) were elicited from all patients. Clinical ophthalmologic examinations, including funduscopy, were performed, and all patients had magnetic resonance imaging (MRI) brain scans. MAIN OUTCOME MEASURES: The occipital distribution of monocular VEP response peaks was studied. The symmetry of lateral channel responses was compared for monocular stimulation. RESULTS: All five patients had a crossed asymmetry in the monocular VEP occipital distribution, which is consistent with a paucity of fibers crossing at the chiasm. The MRI findings supported this electrophysiologic observation, illustrating degrees of chiasmal hypoplasia and variable coincidence of other midline abnormalities of the brain. Optic disc appearances varied from normal to hypoplastic and colobomatous. CONCLUSIONS: The ophthalmologic and MRI findings of five patients who showed a crossed asymmetry in monocular flash VEPs are consistent with a paucity of axons crossing at the chiasm. The similarities between achiasmia in humans and mice due to a Pax2 gene anomaly are discussed.

Coloboma↗
PubMed1999

The eye in epidermolysis bullosa.

AIMS: To describe the ophthalmic findings in a large cohort of epidermolysis bullosa (EB) patients managed in one large specialist centre. METHODS: A case note review of consecutive patients seen at Great Ormond Street Children's Hospital. Data on the dermatological disease, ophthalmic history, and examination were collected and coded onto a data sheet. RESULTS: 181 patients: 50 (28%) simplex EB; 15 (8%) junctional EB; 28 (15%) autosomal dominant dystrophic EB; 72 (40%) autosomal recessive dystrophic EB; nine patients (5%) with dystrophic EB whose inheritance could not be ascertained; and seven cases (4%) of EB that could not be classified. Ocular problems were found in 12% (n = 6) of simplex patients and 40% (n = 6) of those with junctional disease. One patient (of 28) in the autosomal dominant dystrophic group had ocular involvement and 51% (37/72) of patients in the autosomal recessive dystrophic group had ophthalmic complications: corneal (25/72), lid ectropions (3/72), lid blisters (5/72), and symblepharon (3/72). CONCLUSION: Ophthalmic complications are common in EB overall but the incidence varies widely with subtype. Ophthalmic complications are the most severe in the dystrophic recessive and junctional subtypes where there is a need for extra vigilance. The major treatment modality was use of ocular lubricants.

Adolescent↗
PubMed1998

Early VEP and ERG evidence of visual dysfunction in autosomal recessive osteopetrosis.

Autosomal recessive (AR) osteopetrosis has a rapid course and manifests in the first months of life. Visual loss occurs because of optic nerve compromise, and more rarely retinal dysfunction (which may be a part of a primary neurodegeneration). The only curative treatment currently available is bone marrow transplantation (BMT). It has been suggested that BMT is contraindicated if AR osteopetrosis is associated with a primary neurodegeneration. Visual impairment tends to be irreversible after BMT. The young age of the patients makes reliable, objective tests of visual function especially important. We have reviewed the flash electroretinograms (ERGs) and flash and pattern visual evoked potentials (VEPs) recorded without sedation from 15 patients with AR osteopetrosis, 11 of whom were recorded longitudinally. The most frequent, early indication of visual dysfunction was a delay in the pattern or flash VEP latency. This first affects the pattern reversal VEP to small checks. Importantly this often preceded fundal changes of optic disc pallor, and evidence of optic nerve compression on neuroimaging. Only two patients had ERG evidence of retinal dysfunction affecting both rods and cones. One of these patients had a distinctive fundal appearance, but did not have evidence of associated neuronal degenerative disease. The other patient was lost to follow-up. In the patients reviewed in this study successful BMT and optic nerve decompression did not result in VEP improvement. Fundoscopy, VEP and ERG testing are indicated when the diagnosis of AR osteopetrosis is suspected and provide a useful means of monitoring visual involvement.

Bone Marrow Transplantation↗
PubMed1997

Review of aphakic glaucoma after surgery for congenital cataract.

This article describes the clinical presentation of glaucoma in eyes operated on for congenital cataract and reviews current theories as to its pathophysiology. The literature does not provide a conclusive explanation for the seeming increase in aphakic glaucoma in children. Long-term studies comparing like groups may help resolve this question.

Adolescent↗
PubMed1996

Delayed visual maturation in infants: a disorder of figure-ground separation?

Delayed visual maturation (DVM) is characterised by visual unresponsiveness in early infancy, which subsequently improves spontaneously to normal levels. We studied the optokinetic response and recorded pattern reversal VEPs in six infants with DVM (aged 2-4 months) when they were at the stage of complete visual unresponsiveness. Although no saccades or visual tracking with the eyes or head could be elicited to visual objects, a normal full-field rapid buildup OKN response occurred when viewing biocularly or during monocular stimulation in the temporo-nasal direction of the viewing eye. Almost no monocular OKN could be elicited in the naso-temporal direction, which was significantly poorer than normal age-matched infants. No OKN quick phases were missed, and there were no other signs of "ocular motor apraxia." VEPs were normal in amplitude and latency for age. It appears, therefore, that infants with DVM are delayed in orienting to local regions of the visual field, but can respond to full-field motion. The presence of normal OKN quick-phases and slow-phases suggests normal brain stem function, and the presence of normal pattern VEPs suggests a normal retino-geniculo-striate pathway. These oculomotor and electrophysiological findings suggest delayed development of extra-striate cortical structures, possibly involving either an abnormality in figure-ground segregation or in attentional pathways.

Attention↗
PubMed1996

Intermittent horizontal saccade failure ('ocular motor apraxia') in children.

BACKGROUND: Ocular motor apraxia (OMA) in childhood is a poorly understood condition involving a failure of horizontal saccades. OMA is thought to be rare but the literature indicates wide clinical associations. OMA is often identified by abnormal head movements, but failure of reflexive quick phases has been reported in all but a few patients. The extent of this oculomotor disorder was examined in a large group of children with diverse clinical backgrounds. METHODS: The degree of quick phase failure during horizontal vestibular and optokinetic nystagmus was measured using DC electro-oculography and video in 74 affected children, aged 17 days to 14 years. RESULTS: All children showed an intermittent failure of nystagmic quick phases, except for total failure in one case. Other visuomotor abnormalities were common including saccadic hypometria (85%), low gain smooth pursuit (70%), neurological nystagmus (28%), strabismus (22%), and vertical abnormalities (11%). Non-ocular abnormalities were common including infantile hypotonia (61%), motor delay (77%), and speech delay (87%). There was a wide range of clinical associations including agenesis of the corpus callosum, Joubert syndrome, Dandy-Walker malformation, microcephaly, hydrocephalus, vermis hypoplasia, porencephalic cyst, megalocephaly, Krabbe leucodystrophy, Pelizaeus Merzbacher disease, infantile Gaucher disease, GM1 gangliosidosis, infantile Refsum's disease, propionic acidaemia, ataxia telangiectasia, Bardet-Biedl syndrome, vermis astrocytoma, vermis cyst, carotid fibromuscular hypoplasia, Cornelia de Lange syndrome, and microphthalmos. Perinatal and postnatal problems were found in 15% including perinatal hypoxia, meningitis, periventricular leucomalacia, athetoid cerebral palsy, perinatal septicaemia and anaemia, herpes encephalitis, and epilepsy. Only 27% were idiopathic. CONCLUSION: Quick phase failure is a constant feature of OMA, whereas abnormal head movements were detected in only about half, depending on the underlying diagnosis. This oculomotor sign is better described as an intermittent saccade failure rather than as a true apraxia. It indicates central nervous system involvement, has wide clinical associations, but it is not a diagnosis.

Adolescent↗
PubMed1996

Visual acuity in unilateral cataract.

BACKGROUND: Patching the fellow eye in infancy is a well recognised therapy to encourage visual development in the lensectomised eye in cases of unilateral congenital cataract. The possibility of iatrogenic deficits of the fellow eye was investigated by comparing the vision of these patients with untreated unilateral patients and binocularly normal controls. METHODS: Sweep visual evoked potentials (VEPs) offer a rapid and objective method for estimating grating acuity. Sweep VEPs were used to estimate acuity in 12 children aged between 4 and 16 years who had had a congenital cataract removed in the first 13 weeks of life. The acuities of aphakic and fellow phakic eye were compared with the monocular acuities of similarly aged children who have good binocular vision, and with children with severe untreated uniocular visual impairment. Recognition linear acuities were measured with a linear Bailey-Lovie logMAR chart and compared with the sweep VEP estimates. RESULTS: A significant difference was found between Bailey-Lovie acuity of the fellow eye of the patient group and the right eye of binocular controls, and the good eye of uniocular impaired patients (one way ANOVA, p < 0.01). However, this was not evident for a similar comparison with sweep VEP estimates. There was no significant difference between the right and left eye acuities in binocular controls measured by the two techniques (paired t test). CONCLUSION: A loss of recognition acuity in the fellow phakic eye of patients treated for unilateral congenital cataract has been demonstrated with a logMAR chart. This loss was not apparent in children who have severe untreated uniocular visual impairment and may therefore be an iatrogenic effect of occlusion. An acuity loss was not apparent in the patient group using the sweep VEP method. Sweep VEP techniques have a place for objectively studying acuity in infants and in those whose communication difficulties preclude other forms of behavioural test. The mean sweep VEP acuity for the control groups is 20 cpd--that is, about 6/9. When acuities higher than this are under investigation--for example, in older children, slower transient VEP recording may be more appropriate, because higher spatial frequency patterns are not as visible at higher temporal rates (for example, 8 Hz used in sweep VEP recordings).

Adolescent↗
PubMed1996

Bilateral epiretinal membranes: a new finding in Hunter syndrome.

Hunter syndrome or Type II mucopolysaccharidosis is a rare disorder of mucopolysaccharide metabolism. We report the cases of two brothers with Hunter syndrome with the previously undocumented ocular finding of bilateral epiretinal membranes. Epiretinal membranes are an uncommon finding in the paediatric age group.

Adolescent↗
PubMed1995

The optokinetic response differences between congenital profound and nonprofound unilateral visual deprivation.

BACKGROUND: The occurrence of monocular naso-to-temporal optokinetic nystagmus (OKN) asymmetry, as a reflection of the immature oculomotor system in infants, and its persistence with early onset monocular visual deprivation, is well known. This asymmetry has been linked with poor binocular function and attributed to disruption of the development of binocular cortical projections to the pretectum. Optokinetic nystagmus symmetry in patients with congenital uniocular total pattern vision deprivation has not been fully investigated. METHODS: The authors compared the optokinetic responses in six children with "profound" uniocular visual deprivation, who were born with untreated conditions (microphthalmos and persistent hyperplastic primary vitreous), with ten aphakic children treated early for congenital unilateral cataracts (nonprofound unilateral visual deprivation). Eye movements were recorded using dc-electro-oculography, and OKN was elicited using a full-field patterned curtain. Flash and pattern visual-evoked responses were also measured in each subject. RESULTS: Latent nystagmus was present in six children in the nonprofound group, whereas none was detected in the profound group. All children in the nonprofound group showed statistically significant monocular naso-to-temporal asymmetry for either eye. Subjects in the profound group had symmetric OKN. CONCLUSIONS: The authors conclude that unequal input from the two eyes and interocular rivalry lead to OKN asymmetry. Their results suggest that if vision from one eye is so negligible that it does not compete with the neuroanatomic connections of the fellow eye, then the input from this eye remains undisturbed, and OKN remains symmetric.

Adolescent↗
PubMed1995

Familial posterior lenticonus.

Posterior lenticonus tends to be unilateral and there is no evidence that this is a familial condition. We report three cases of bilateral posterior lenticonus in boys. The mothers of all three cases had posterior lenticular changes, less severe than their sons. We suggest that bilateral posterior lenticonus may be inherited in an X-linked fashion.

Cataract↗
PubMed1995

Neuroradiological and eye movement correlates in children with intermittent saccade failure: "ocular motor apraxia".

Ocular motor apraxia (OMA) is a clinical sign involving the intermittent inability to initiate saccades, and a failure of quick phases during optokinetic nystagmus (OKN) and vestibular nystagmus (VN). Some patients have no other associated abnormalities (idiopathic), whereas others have a variety of neurological conditions. We quantified the severity of the saccade failure and correlated it with neuro-radiological and other oculomotor findings in 62 children (aged 17 days - 14 years). Saccades, smooth pursuit, OKN and VN were recorded using electrooculography and the extent of "locking up" (absent quick phases during OKN and VN) was measured. Saccades were usually hypometric. Pursuit and OKN gains were normal in the majority of the idiopathic cases but were low in those with other neurological conditions. Twenty-four patients had essentially normal scans, whereas 38 had abnormal scans: Delayed myelination, cerebellar abnormalities (particularly involving the vermis), and agenesis of the corpus callosum were the most common findings. A significant positive correlation was present between increasing neuro-radiological deficits and severity of "locking up" during OKN. Principal component analysis showed that brainstem and cerebellar vermis abnormalities were the main factors involved. A pathophysiological basis of OMA is discussed in the light of animal and clinical studies.

Adolescent↗