Incontinentia pigmenti--ophthalmological observation of a series of cases and review of the literature.

AIM: The aims of this study were to make an inventory of the disease in Ireland, to acquire better knowledge of the relationship between genetic makeup and phenotypic ocular presentation and, finally, through literature review and personal experience, to establish clear guidelines on best practice in the management of children with this rare condition both in terms of screening and follow-up. METHODS: All patients who attended the dermatology and genetic clinic in Our Lady's Hospital for Sick Children, Crumlin, with incontinentia pigmenti (IP) were contacted and invited to attend the eye clinic for ocular assessment. Children who were already attending the ophthalmic services before commencement of the study had their charts reviewed for assessment. RESULTS: 11 of 19 patients agreed to attend the clinic for ocular assessment. Of these patients, nine had genetic testing. The mean age of the patients at the examination was 8 years (3 months to 29 years). In 10 patients, IP was the result of a spontaneous mutation, whereas the condition was inherited from an affected mother in one patient. Of the 11 patients with IP, 5 have visually significant ocular findings (47%). We describe the case history of four of these children briefly to outline the severity of this condition. CONCLUSION: Our patients had a significant percentage of ocular abnormalities (47%). We have outlined an examination schedule for patients with and without retinal pathology and recommend fluorescein angiography in patients with retinal pathology to fully determine the extent of ischaemia. Like other studies, early treatment with peripheral retinal photocoagulation to reduce the risk of retinal detachment is recommended in this study.

Sweeten, soother and swaddle for retinopathy of prematurity screening: a randomised placebo controlled trial.

OBJECTIVE: To assess the efficacy of oral sucrose combined with swaddling and non-nutritive suck (NNS) as a method for reducing pain associated with retinopathy of prematurity (ROP) screening. DESIGN: Randomised placebo controlled study. SETTING: Tertiary level neonatal intensive care unit. SAMPLE: 40 infants undergoing primary eye examination for ROP screening. INTERVENTION: The control group were swaddled, and received 0.2 ml of sterile water given by mouth using a syringe and a soother. The intervention group were swaddled, and received 0.2 ml of sucrose 24% given by mouth using a syringe and a soother. RESULTS: 40 infants were included in the study. There was no difference in mean gestational age at birth, mean birth weight or corrected gestational age at first examination between both groups. The sucrose group had a significantly lower median Neonatal Pain, Agitation and Sedation Scale (N-PASS) score during ROP screening, initially following insertion of the speculum (6.5 vs 5, p=0.02) and subsequently during scleral indentation (9.5 vs 7.5, p=0.03). Fewer infants experienced episodes of desaturations or bradycardia in the intervention group (1 vs 4, p=0.18). CONCLUSION: ROP screening is a necessary but recognised painful procedure. Sucrose combined with NNS and swaddling reduced the behavioural and physiological pain responses. However, pain scores remained consistently high and appropriate pain relief for ROP screening remains a challenge.

Oculo-facio-cardio-dental syndrome in a mother and daughter.

Oculo-facio-cardio-dental (OFCD) syndrome is a rare X-linked dominant syndrome characterized by canine teeth with extremely large roots (radiculomegaly), congenital cataract, dysmorphic facial features and congenital heart disease. A case of mother-daughter vertical transmission of OFCD is reported. Dental findings were important in confirming the diagnosis in the mother.

Hydrogen peroxide formation during iron deposition in horse spleen ferritin using O2 as an oxidant.

The reaction of Fe2+ with O2 in the presence of horse spleen ferritin (HoSF) results in deposition of FeOH3 into the hollow interior of HoSF. This reaction was examined at low Fe2+/HoSF ratios (5-100) under saturating air at pH 6.5-8.0 to determine if H2O2 is a product of the iron deposition reaction. Three methods specific for H2O2 detection were used to assess H2O2 formation: (1) a fluorometric method with emission at 590 nm, (2) an optical absorbance method based on the reaction H2O2 + 3I- + 2H+ = I3- + 2H2O monitored at 340 nm for I3- formation, and (3) a differential pulsed electrochemical method that measures O2 and H2O2 concentrations simultaneously. Detection limits of 0.25, 2.5, and 5.0 microM H2O2 were determined for the three methods, respectively. Under constant air-saturation conditions (20% O2) and for a 5-100 Fe2+/HoSF ratio, Fe2+ was oxidized and the resulting Fe3+ was deposited within HoSF but no H2O2 was detected as predicted by the reaction 2Fe2+ + O2 + 6H2O = 2Fe(OH)3 + H2O2 + 4H+. Two other sets of conditions were also examined: one with excess but nonsaturating O2 and another with limiting O2. No H2O2 was detected in either case. The absence of H2O2 formation under these same conditions was confirmed by microcoulometric measurements. Taken together, the results show that under low iron loading conditions (5-100 Fe2+/HoSF ratio), H2O2 is not produced during iron deposition into HoSF using O2 as an oxidant. This conclusion is inconsistent with previous, carefully conducted stoichiometric and kinetic measurements [Xu, B., and Chasteen, N. D. (1991) J. Biol. Chem. 266, 19965], predicting that H2O2 is a quantitative product of the iron deposition reaction with O2 as an oxidant, even though it was not directly detected. Possible explanations for these conflicting results are considered.

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.

Aneurysmal bone cyst of the orbit: a case report and review of literature.

Aneurysmal bone cyst is a benign fibroosseous lesion which rarely occurs in the orbit. We report on a 7-year-old girl with aneurysmal bone cyst of the orbit who presented with painless proptosis and diplopia. Optic nerve compression resulted in field loss and delayed visual evoked potentials. Radiological and histological features are discussed. The lesion was excised via a frontal craniotomy and the orbital roof reconstructed with a prefabricated titanium plate. Post-operatively a rapid resolution of the proptosis and diplopia followed. Previous reported cases of this rare entity in the orbit are also reviewed.

OKN, perceptual and VEP direction biases in strabismus.

The present study quantified nasalward/temporalward biases in monocular optokinetic nystagmus (MOKN) and perceived velocity in patients with either early onset esotropia, late onset esotropia and in normals. MOKN was measured with low spatial frequency, small-field gratings drifting at 9.4 degrees/s. MOKN bias was quantified as the ratio of nasalward slow-phase velocity divided by the sum of temporalward and nasalward slow-phase velocities (N/(N + T)). Observers also rated the perceived velocity of gratings moving in nasalward and temporalward directions (3 or 9.4 degrees/s) using a two interval forced choice task. MOKN and perceived velocity biases were correlated negatively in both early onset and late onset groups in the perceptual task--nasalward moving targets were rated as slower than temporalward targets, but in the MOKN task, slow-phase gain was higher for nasalward than for temporalward targets. Oscillatory-motion, visual evoked potentials (VEPs), were recorded in response to 1 c/deg gratings undergoing apparent motion at 10 Hz in a subset of the observers. VEP direction biases were quantified by calculating the ratio of first harmonic response amplitudes to the sum of first and second harmonic amplitudes. Significant correlations were found between the direction biases obtained on all three measures. Perceived velocity and MOKN bias measures were also correlated negatively. Patients with early onset esotropia (infantile esotropia) had larger biases than late onset esotropes or normals on each measure and the biases were more frequently bilateral in the early onset patients. The pattern of result is consistent with early critical periods for the mechanism(s) underlying MOKN, perceived velocity and cortical responsiveness. A single site model for all three asymmetries is unlikely, at least in simple form, because of the negative correlation between MOKN and perceived velocity biases and because of the differences in relative magnitude between the perceptual and MOKN biases.

Assessment of retinal-neural function before neodymium:YAG laser capsulotomy.

PURPOSE: The aim of this study was to evaluate a clinical test of hyperacuity in the assessment of retinal-neural function in patients with posterior capsular opacification. METHODS: Neodymium (Nd):YAG laser capsulotomy was performed on 39 subjects (mean age, 76.72 years +/- 10.41 years). Measurements of refractive error, logMAR acuity, and displacement threshold hyperacuity (DTH) were made before and 3 weeks after Nd:YAG therapy. The DTH task involved measurement of the smallest detectable displacement of an object relative to two stationary references. In addition, an independent fundus examination was performed before and after therapy to determine the presence of retinal disease. By ophthalmoscopic examination, a blind protocol was adopted for the classification of subjects as normal or as having retinal disease. RESULTS: Preoperative measures of logMAR visual acuity were of no value in distinguishing between patients with retinal disease and normals (P > 0.1) and were a poor indicator of postoperative logMAR acuity (r2 = 0.2). Preoperative DTH could be used to distinguish patients with retinal disease from normals (P < 0.005) and were found to be correlated with measures of postoperative logMAR acuity (r2 = 0.4). Preoperative DTH correlated well with postoperative DTH (r2 = 0.7), which is consistent with its resistance to optical image degradation. CONCLUSION: The results of this study indicate that DTH is of value in the presurgical assessment of visual function in patients with media opacification if adequate fundus examination is not possible.

A diagnostic quartet in leptomeningeal infiltration of the optic nerve sheath.

A rare case of optic leptomeningeal carcinomatosis secondary to a rectal adenocarcinoma is recorded. The presentation of rectal disease with blindness is unique. A diagnostic quartet of symptoms and signs of leptomeningeal infiltration of the optic nerve sheath is proposed and its value emphasized by the inability of further investigation to confirm the clinical diagnosis. The investigation and treatment of leptomeningeal carcinomatosis is reviewed.

Assessment of the ocular response to topical beta-adrenoceptor antagonists using accommodative microfluctuations.

Power spectrum analysis of accommodative microfluctuations has identified two dominant frequency components: a low frequency component (LFC < 0.6 Hz) and a high frequency component (1.3 Hz < HFC < 2.5 Hz). Computer-driven models of accommodation and experimental manipulation of accommodative feedback loops indicate that LFCs are likely to have a functional role in monitoring retinal image contrast during sustained accommodation. In contrast HFCs have been shown to be correlated with arterial pulse frequency and consequently their characteristics can be modified by the extra- and intra-ocular vascular (and possibly CNS) effects. For example, topical instillation of the non-selective beta-antagonist timolol maleate has shown previously the ability to modify the HFC. In an attempt to clarify proposed differences between beta-adrenoceptor antagonist agents with regard to their effects on systemic and ocular vasculature, we extend the potential offered by HFCs as a non-invasive method of assessing the ocular response to beta-antagonists to the cardioselective beta-antagonist betaxolol HCl. Accommodative microfluctuations were measured using a continuously recording infrared optometer on 10 emmetropic subjects (mean age 23.9 +/- 2.3 years) who viewed a high contrast target located at a vergence of -4 D. A double-blind protocol was employed between saline and betaxolol (0.5%, 2 x 30 microliters) following corneal anaesthesia. Local and systemic effects were separated by examining the treated and untreated eyes of three subjects. Power spectrum analysis indicated that the root mean square (r.m.s.) value and power of LFCs and HFCs were equivalent for the saline and betaxolol trials.(ABSTRACT TRUNCATED AT 250 WORDS)

Representation of the visual field in the occipital striate cortex.

The representation of the field of vision in the human striate cortex is based on the Holmes map in which about 25% of the surface area of the striate cortex is allocated to the central 15 degrees of vision. Following the introduction of computed tomography of the brain, the accuracy of the Holmes map was apparently confirmed by clinical/radiological correlation, but a revision has been proposed by Horton and Hoyt based on a magnetic resonance imaging study of three patients with visual field defects due to striate lesions. They propose that the central cortical representation of vision occupies a much larger area. This study reviews the perimetric and imaging findings in a larger series of patients with striate cortical disease and provides support for the revised representation. The clinical phenomenon of macular sparing and its relation to representation of the macula at the occipital pole is also discussed.

Pathology of hereditary retinal degeneration associated with hypobetalipoproteinemia.

BACKGROUND: The clinical features and previously unreported ocular pathology in a case of heterozygous hypobetalipoproteinemia (HBL) associated with a pigment epitheliopathy are documented. Night blindness developed in a white woman with familial heterozygous HBL (cholesterol and low-density lipoprotein levels < 5% of normal) at 51 years of age. Ophthalmoscopy showed bilateral symmetric depigmentation at the posterior pole with pigment clumping and pavingstone configuration in the periphery. By the time the patient died, at 75 years of age, vision had deteriorated to hand motions. METHODS: One eye was removed 2 hours postmortem for light and electron microscopic study. RESULTS: The photoreceptors were absent, and the outer nuclear layer was replaced by glial cells throughout most of the retina, but there was some focal photoreceptor preservation in isolated regions. The outstanding feature was a massive deposition of basal linear deposit which was calcified in segments and which contained macrophages and the processes of glial cells: trilaminar bodies and melanin granules were identified in the macrophages. The remaining retinal pigment epithelial cells contained melanin but very little lipofuscin: intraretinal migration was minimal. CONCLUSIONS: The authors postulate that the pigment epitheliopathy associated with HBL is an abiotrophy in which photoreceptor discs are unable to regenerate due to locally disordered metabolism resulting from or acting in concert with the pigment epitheliopathy.

Neuro-ophthalmic features of carotid cavernous fistulas and their treatment by endoarterial balloon embolisation.

The neuro-ophthalmic features of 11 traumatic carotid cavernous fistulas and their successful occlusion by endoarterial balloon embolisation is reported. Significant improvement in all neuro-ophthalmic signs and symptoms occurred following treatment, however, ocular motility deficits persisted in 7 patients. All 11 fistulas were occluded and the patency of the internal carotid artery was preserved in 9 patients. Though the internal carotid artery was sacrificed in 2 patients there were no permanent sequelae. Transient complications of the procedure occurred in 2 patients.