Pseudopterygium arising in a patient with multiple keloids.

We describe an unusual case of mechanical restriction of the globe caused by pseudopterygium formation at the site of a minor ocular injury, which led to a possible link between Ebstein's anomaly and keloids.

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings.

PURPOSE: To describe the cataract morphology and genetic and biochemical findings in a four-generation family with hereditary hyperferritinemia cataract syndrome (HHCS). METHODS: Family members of the proband with HHCS were investigated. DNA sequencing was carried out to identify the iron responsive element (IRE) of the L-ferritin gene in affected and non-affected family members. Molecular modeling allowed prediction of the structure of the mutant IRE in affected cases. Serum ferritin and transferrin saturation were determined using standard methods. All family members underwent slit lamp examination by an ophthalmologist to document presence of cataract or lens status. Cataract morphology was documented where present. RESULTS: This family with HHCS had the genetic heterozygous mutation G32C in the IRE of the L-ferritin mRNA. Lens opacities were detectable in young members of the family, and morphology of cataracts was consistent with previous reports. Biochemical testing demonstrated high serum ferritin levels in affected individuals. CONCLUSIONS: The morphology of cataracts in HHCS seems to be similar in all cases. In the heterozygous G32C mutation, the age at onset of cataracts is very early. Greater awareness of this condition among ophthalmologists will lead to effective family counseling of those affected, by genetic testing or simple biochemical tests. Serum ferritin levels can be effectively used to screen for this condition in suspected families.

Acute sixth-nerve palsy after vincristine therapy.

The chemotherapeutic effectiveness of vincristine was first reported in 1962, and with its increased use the incidence of reported neurologic side effects has also increased. We reported a case of acute sixth-nerve palsy occurring soon after administration of vincristine for acute lymphoblastic leukemia (ALL), a previously unreported side effect.

Visual function following neurosurgical optic nerve decompression for compressive optic neuropathy.

AIMS: To assess the course of visual function after neurosurgical decompression of the optic nerve during resection of intracranial tumours. To obtain information that may be used to counsel patients. METHODS: A retrospective review of the acuity and visual fields of 27 patients undergoing neurosurgical decompression of 36 optic nerves in a regional neurosurgical centre. Two groups were considered, those undergoing craniotomy for sphenoid wing meningioma en plaque, and those undergoing an extended transbasal approach to intracranial tumours. RESULTS: At the last follow-up (1-97 months), improvement in acuity was seen in 47% of eyes with decompressed nerves. One-third of these showed late improvement, and two-thirds showed immediate improvement. In total, 20% of eyes had worse acuity at the last follow-up compared with preoperative values, just under one-third of these showed late deterioration, and the remainder showed immediate deterioration. In total, 33% of eyes achieved acuities equal to those recorded preoperatively, 6% improving to this level postoperatively. CONCLUSIONS: The majority of eyes in this study maintained or improved acuity after decompression. A proportion of eyes continue to improve after surgery, and a proportion deteriorate. There is no relation between duration of preoperative symptoms or the level of preoperative acuity and the change in acuity achieved.

Affluence is not related to delay in diagnosis of Type 2 diabetes as judged by the development of diabetic retinopathy.

AIM: To determine the relationship between affluence and the presence of diabetic retinopathy at time of diagnosis of Type 2 diabetes. METHODS: Records of patients held by Southampton Retinal Screening Programme were examined. Patients (n = 1844) newly diagnosed with Type 2 diabetes and subsequently receiving photographic retinal screening within 24 months were selected. Townsend scores for social deprivation were calculated and the patients with and without retinopathy at first screening were then compared. RESULTS: No significant difference was found in the median Townsend score of those people with (-0.2, interquartile range (IQR) -3.7 to 3.8) and those without (-0.5, IQR -3.3 to 3.6) diabetic retinopathy at first screening after diagnosis of Type 2 diabetes (P = 0.6). CONCLUSION: The relative affluence of the area in which a person lives, as judged by postcode, does not appear to predict likelihood of diabetic retinopathy at diagnosis of Type 2 diabetes.

Doppler ultrasonography to aid diagnosis of orbital capillary haemangioma in neonates.

PURPOSE: To illustrate the use of Colour Doppler Ultrasonography to aid the differential diagnosis of orbital masses in neonates. METHODS: Three cases are reported of neonates presenting with undiagnosed orbital masses as isolated findings, causing lid swelling and proptosis and prompting a differential diagnosis of an orbital vascular lesion, rhabdomyosarcoma or other tumour. Colour Doppler Ultrasonography in expert hands using a small footprint linear 10-5 transducer proved an atraumatic, rapid and accurate way of confirming a vascular lesion at the first clinic visit. This reassured the family and ophthalmologist alike, and obviated the need for biopsy or cross sectional imaging requiring anaesthetic. All three lesions were orbital capillary haemangiomas with characteristic ultrasonographic findings. RESULTS: Illustrations are provided to illustrate the features of the capillary haemangiomas when visualised with Colour Doppler Ultrasonography. CONCLUSIONS: The use of ultrasonography in very young infants can help exclude malignancy, without the need for cross sectional imaging or biopsy under anaesthetic. However, close observation remains mandatory. Repeat scanning is easily performed with no adverse effects, in potential contrast to other imaging modalities.

Documenting pediatric lens problems with the MTI polaroid photoscreener.

PURPOSE: To evaluate the use of the MTI photoscreener (Medical Technology Inc, Iowa City, Iowa) in assessing and documenting lens abnormalities in the pediatric ophthalmology clinic. METHODS: MTI photoscreener photographs of pediatric patients with lens abnormalities were taken to assess and document lens opacities and subluxation, to assist with explanations to parents, and to monitor progression of abnormalities. Postoperative photographs were taken to assess opacification of the posterior capsule and contact lens fit. RESULTS: Nineteen children with lens abnormalities were examined. Twelve patients underwent surgery and 9 patients had postoperative photoscreener pictures. Illustrative cases are reported. CONCLUSION: The MTI photoscreener is a useful adjunct to clinical examination in the assessment and documentation of pediatric lens abnormalities.

A study of EEG, electroretinogram, visual evoked potential, and eye movements in classical lissencephaly.

EEG, flash electroretinogram (ERG), and visual evoked potential (VEP) findings are described in eight children with classical lissencephaly (six girls, two boys), with a mean age of 17.6 months (range 2 to 60 months). The EEG shows typically high-voltage activity. Eye movements were formally recorded in two patients, and both showed features associated with oculomotor apraxia. The ERG and VEP to flash stimulation were normal in all cases. Two subjects had pattern reversal stimulation, and their pattern VEPs were within normal limits. Some patients with lissencephaly may appear to have delayed visual maturation on first presentation, and EEG and eye movement studies are valuable in indicating neurological deficiency at an early stage in these subjects.

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.

Comparison of the erythrocyte sedimentation rate measured in the eye casualty department by the Seditainer method with an automated system.

PURPOSE: To compare a new automated system for the measurement of erythrocyte sedimentation rate (ESR) with the established manual Seditainer method. METHODS: Two hundred and twelve patients undergoing investigation for giant cell arteritis or other systemic vasculitides had ESR measurements by both the established manual Seditainer and the new laboratory-based automated system. The results were compared by correlation coefficient and mean difference. The limits of agreement with confidence intervals were also calculated. RESULTS: Across the range of results from 1 to 120 mm/h, the correlation coefficient was 0.844. The automated method had a mean negative bias of -9.8 mm/h (95% confidence interval: -12.2 to -7.4 mm/h). The wide scatter of results produced limits of agreement (+/- 2 standard deviations) between the two methods of -45 to 26 mm/h. There were seven results that were underestimated by the automated system which were clinically significant. CONCLUSIONS: There is a wide degree of scatter between the two sets of results. The automated system has a negative bias when compared with the manual method. There is a propensity for the automated system to sporadically underestimate the true result, sometimes to a degree that is clinically significant. The authors therefore cannot recommend replacement of the manual Seditainer system at the present time.

Necrotising fasciitis as a complication of botulinum toxin injection.

PURPOSE: To highlight the need for early diagnosis and treatment of the rare condition of necrotising fasciitis as a complication of botulinum toxin injection, and to illustrate that injections in immunocompromised patients carry a rare but serious risk. RESULTS AND METHODS: A case report is presented of an 80-year-old woman suffering from blepharospasm and chronic myeloid leukaemia, who developed necrotising fasciitis 3 days after a botulinum toxin injection. CONCLUSIONS: Chronic debilitating processes such as diabetes, alcoholism and polymyositis have been suggested as predisposing factors in the development of necrotising fasciitis. We believe this is the first reported case of necrotising fasciitis occurring secondary to a botulinum toxin injection. The fact that this infection extended through the fascial planes and led to the death of muscle was, probably, because an inoculum was introduced directly into the muscle at the time of botulinum toxin treatment. This may have led to its deep spread and difficulty in debriding the area. Chronic myeloid leukaemia does not in itself cause significant immunosuppression, but our patient was on anti-proliferative treatment and had a low leucocyte count, which may have been a predisposing factor in this case.

The nanophthalmic macula.

AIMS: To define an unusual macular appearance found in association with nanophthalmos. METHODS: A case review. RESULTS: Seven children (aged 8 months to 17 years) with nanophthalmos were examined. They all exhibited the same clinical findings of an unusual yellow macula appearance with retinal folds and crowded optic discs. Visual electrophysiology performed in four cases was normal. CONCLUSION: A distinctive yellow macular pigmentation with associated chorioretinal folds and crowded optic discs is present in nanophthalmos. It is proposed that the retinal folds are due to a disparity between scleral and retinal growth while the macula discoloration is due to a congenital abnormality in arrangement or position of the luteal pigment and is not degenerative. Included in this case series is the second case in the literature of nanophthalmos associated with Kenny's syndrome. Inheritance of nanophthalmos appears to be autosomal recessive.

Familial congenital saccade initiation failure and isolated cerebellar vermis hypoplasia.

The underlying lesion in congenital saccade initiation failure (c-SIF) ('congenital ocular motor apraxia', 'Cogan's apraxia') is uncertain. Often no abnormality can be found, yet in others a midline cerebellar abnormality has often been reported. We examined this cerebellar association in a brother and sister. In addition to standard ophthalmological and neurological examinations, both siblings underwent ocular motor testing and neuroradiological investigations including CT and MRI. Both siblings exhibited the typical signs of c-SIF, including headthrusting, synkinetic blinking, missed-nystagmus quick phases, mild developmental delay, and speech difficulties. CT and MRI revealed cerebellar vermis hypoplasia in the brother, but appeared normal in the sister. No other neuroradiological abnormalities were detected. These cases highlight the wide variability in the association of vermis abnormalities with c-SIF, despite the inheritance and similar clinical manifestations. They show that either: (1) the vermis is causal in saccade triggering, but that c-SIF may result from very subtle damage that is beyond MRI resolution in some cases; or (2) that a vermis abnormality per se is not causative but only a marker of another subtle abnormality, either structural or possibly biochemical.

Immunophenotyping in presumed ocular histoplasmosis like retinopathy.

Four cases of presumed ocular histoplasmosis like retinopathy are presented. A detailed immunological assessment was carried out on the patients and a control group: lymphocyte immunophenotyping; flow cytometric analysis; HLA typing and T cell receptor variable region (TCR V region) expression were assessed. Analysis of TCR V region expression revealed no significant preferential expression. HLA typing also failed to reveal any links. All lymphocyte markers analysed were unremarkable, with the exception of CD38 which was significantly raised compared with controls (p < 0.01). This finding was confirmed by the use of two different CD38-specific monoclonal antibodies. The raised CD38 in our cases was shown to be persistent when the patients were retested after an interval of several months. Significantly, this may correlate with poor T cell function, as in Common Variable Immunodeficiency, making these patients more susceptible to various stimuli.