Optic nerve compression: a rare ocular manifestation of Proteus syndrome.

Proteus syndrome is characterized by progressive, asymmetric, and distorting overgrowth that involves the skeletal, cutaneous, subcutaneous, and nervous systems. We report the case of a 10-year-old girl with Proteus syndrome and a constellation of ocular signs, including congenital glaucoma, myopia, amblyopia, strabismus, megaloglobus, epibulbar tumors, and right retinal detachment. A decrease in left eye visual acuity coupled with significant deterioration in visual evoked potential response over time prompted urgent neuroimaging, which revealed massive overgrowth of the sphenoid bone, with bilateral optic nerve compression due to optic canal stenosis. Successful removal of the roof of the optic canal along its entire course resulted in optic nerve decompression.

Isolated Ocular Stevens-Johnson Syndrome Caused by Lymecycline in a Patient with Underlying Ulcerative Colitis.

Stevens-Johnson syndrome (SJS) and the more severe variant, toxic epidermal necrolysis (TEN), are a spectrum of mucocutaneous reactions with potentially devastating ocular consequences. Ocular complications occur in about 70% of patients with Stevens-Johnson syndrome, and 35% continue with chronic disease. We report an unusual presentation of isolated ocular Stevens-Johnson syndrome in a patient with recently diagnosed ulcerative colitis being treated with Infliximab. The case had an insidious and atypical onset and represented a diagnostic dilemma. The diagnosis was more difficult, due to the fact that the inciting agent had long been stopped. Severe bacterial conjunctivitis such as that caused by Chlamydia Trachomatis, Corynebacterium diphtheria, and Neisseria Gonorrhea can cause forniceal shortening and symblepharon; this diagnosis was ruled out with microbiological swabs. A conjunctival biopsy was the key to diagnosis. Treatment involved high-dose IV steroids and dual immunosuppression with Infliximab and mycophenolate mofetil. We sought to employ interventions with the greatest impacts on our patient's condition. Our experience contributes to the growing evidence supporting intensive ophthalmic management of SJS to prevent long-term vision loss.

Ophthalmia neonatorum in a tertiary referral children's hospital: A retrospective study.

OBJECTIVES: The purpose of this study was to examine the aetiology, investigation and management of ophthalmia neonatorum (ON) presenting to a tertiary referral children's hospital over 5 years. METHODS: The eye swab data of all neonates presenting to Children's Health Ireland at Temple Street (Dublin, Ireland) between 1st January 2013 and 3rd September 2018 was analysed. The medical records of all patients with positive eye swab results were retrospectively reviewed. RESULTS: A total of 157 neonates had positive eye swab results. 54 cases were identified as ON. Chlamydia trachomatis (20.4%) was the most common organism identified, followed by Staphylococcus aureus (18.5%), Haemophilus influenzae (14.8%), Moraxella catarrhalis (7.4%), Streptococcus pneumoniae (5.6%), Escherischia coli (3.7%), Klebsiella pneumoniae (1.9%) and Pseudomonas aeruginosa (1.9%). A bacterial culture swab was tested in all cases (100%), a C. trachomatis/N. gonorrhoeae PCR swab in 70.4% and a viral PCR swab in 35.2%. On subanalysis of the cases that had C. trachomatis/N. gonorrhoeae PCR testing, C. trachomatis was responsible for 28.9% of cases. 50% of cases were hospitalised, intravenous antibiotics were administered in 46.3% and macrolide therapy was prescribed in 38.9%. CONCLUSIONS: C. trachomatis was the most common cause of ON in this study and may be responsible for an even higher proportion of cases due to incomplete testing. In keeping with studies in different populations, S. aureus, H. influenzae and S. pneumoniae were also common. As a result, an improved management algorithm for cases of ON has been introduced in this centre.

Paradoxical fall in proteinuria during pregnancy in an LCAT-deficient patient-A case report.

A 29-year-old lady was diagnosed with lecithin:cholesterol acyltransferase (LCAT) deficiency having presented with bilateral corneal clouding, severely reduced high density lipoproteins cholesterol, and proteinuria. She is a compound heterozygote with two LCAT gene mutations, one of which is novel, c.321C>A in exon 3. Surprisingly, the level of proteinuria significantly improved during pregnancy, despite stopping the angiotensin-converting enzyme inhibitor. However, LCAT concentration and activity remained identical during pregnancy and postpartum. Her pregnancy was complicated by rising triglyceride levels from the second trimester requiring treatment with omega-3 fatty acid and fenofibrate. In the last trimester, a further complication arose when she became hypertensive and proteinuria worsened. She was diagnosed with pre-eclampsia and had an emergency cesarean section at 39 weeks delivering a healthy baby. This case adds to the knowledge of the pathophysiology of LCAT deficiency during pregnancy and will be useful in future patient management.

Treatment of retinopathy of prematurity in Northern Ireland, 2000-2011: a population-based study.

PURPOSE: To evaluate the incidence of treatment-requiring retinopathy of prematurity (ROP) over a 12-year-period in Northern Ireland. METHODS: The medical records of all infants treated for ROP from January 2000 to December 2011 were retrospectively reviewed and cross-referenced with the Neonatal Intensive Care Outcomes Research and Evaluation (NICORE) database. RESULTS: The Northern Ireland population data showed an increase in the number of live births from 2000 to 2011. The proportion of babies born with a birth weight <1501 g and/or <32 weeks' gestational age remained constant (χ(2) trend = 3.220, P = 0.0727), although the proportion of these babies who died prior to 42 weeks' gestation decreased from 2000 to 2011 (P = 0.0196 using χ(2) for trend = 5.445; P = 0.0354 using χ(2) = 20.809). The prevalence of treatment-requiring ROP in these infants increased from 1.05% in 2000 to 5.78% in 2011 (P < 0.001 using χ(2) trend = 16.309; P < 0.001 using χ(2) = 31.378). CONCLUSIONS: The present population-based study highlights that the incidence of treatment- requiring ROP is increasing in Northern Ireland. The increasing number of infants requiring treatment will need to be taken into consideration in the commissioning process for ROP services in Northern Ireland.

The use of Pentacam in the assessment of true exfoliation of the lens capsule.

PURPOSE: To highlight the use of Pentacam in the identification of true exfoliation of the lens capsule. METHODS: A 72-year-old woman presented for assessment of bilateral cataracts. An unusual appearance was noted in the right eye. A scrolled membrane was seen floating in the anterior chamber. RESULTS: Imaging with Pentacam showed its origin to be from the anterior lens capsule, suggesting the diagnosis of true exfoliation of the lens capsule. The patient went on to have uncomplicated cataract surgery and the lens capsule was sent for histopathology. CONCLUSIONS: This case highlights the use of anterior segment imaging, the classic histopathology findings, and the management of cataract surgery in these rare cases.

Mutational Analysis of the Rhodopsin Gene in Sector Retinitis Pigmentosa.

BACKGROUND: To determine the role of rhodopsin (RHO) gene mutations in patients with sector retinitis pigmentosa (RP) from Northern Ireland. DESIGN: A case series of sector RP in a tertiary ocular genetics clinic. PARTICIPANTS: Four patients with sector RP were recruited from the Royal Victoria Hospital (Belfast, Northern Ireland) and Altnagelvin Hospital (Londonderry, Northern Ireland) following informed consent. METHODS: The diagnosis of sector RP was based on clinical examination, International Society for Clinical Electrophysiology of Vision (ISCEV) standard electrophysiology, and visual field analysis. DNA was extracted from peripheral blood leucocytes and the coding regions and adjacent flanking intronic sequences of the RHO gene were polymerase chain reaction (PCR) amplified and cycle sequenced. MAIN OUTCOME MEASURE: Rhodopsin mutational status. RESULTS: A heterozygous missense mutation in RHO (c.173C > T) resulting in a non-conservative substitution of threonine to methionine (p. Thr58Met) was identified in one patient and was absent from 360 control individuals. This non-conservative substitution (p.Thr58Met) replaces a highly evolutionary conserved polar hydrophilic threonine residue with a non-polar hydrophobic methionine residue at position 58 near the cytoplasmic border of helix A of RHO. CONCLUSIONS: The study identified a RHO gene mutation (p.Thr58Met) not previously reported in RP in a patient with sector RP. These findings outline the phenotypic variability associated with RHO mutations. It has been proposed that the regional effects of RHO mutations are likely to result from interplay between mutant alleles and other genetic, epigenetic and environmental factors.

Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections.

Non-syndromic familial thoracic aortic aneurysms and dissections (TAAD) are inherited in an autosomal dominant manner. We report a missense mutation in the smooth muscle α-actin (ACTA2; MIM*102620) gene in a 3 generational family from Northern Ireland in which iris flocculi were an ocular marker of the disease.

The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype.

PURPOSE: To present a detailed phenotypic and molecular study of a series of 18 patients from 11 families with retinal dystrophies consequent on mutations in the cone-rod homeobox (CRX) gene and to report a novel phenotype. METHODS: Families were ascertained from a tertiary clinic in the United Kingdom and enrolled into retinal dystrophy studies investigating the phenotype and molecular basis of inherited retinal disease. Eleven patients were ascertained from the study cohorts and a further seven from investigation of affected relatives. Detailed phenotyping included electrodiagnostic testing and retinal imaging. Bidirectional Sanger sequencing of all exons and intron-exon boundaries of CRX was performed on all 18 reported patients and segregation confirmed in available relatives. RESULTS: Based on clinical characteristics and electrophysiology, four patients had Leber congenital amaurosis (LCA), two had rod-cone dystrophy (RCD), five had cone-rod dystrophy (CORD), one had cone dystrophy (COD), and six had macular dystrophy with different phenotypes observed within 5 of 11 families. The macular dystrophy patients presented between 35 to 50 years of age and had visual acuities at last review ranging from 0.2 to 1.5 logMAR (20/32 to 20/630 Snellen). All 18 patients were heterozygous for a mutation in CRX with seven novel mutations identified. There was no evident association between age of onset and position or type of CRX mutation. De novo mutations were confirmed in three patients. CONCLUSIONS: Mutations in CRX demonstrate significant phenotypic heterogeneity both between and within pedigrees. A novel, adult-onset, macular dystrophy phenotype is characterized, further extending our knowledge of the etiology of dominant macular dystrophies.

Amniotic band syndrome associated with an atypical iris and optic nerve defect.

We report the case of an 8-year-old boy who presented with right cleft lip and palate, left Tessier number 3 and 11 clefts, and limb abnormalities because of amniotic band syndrome. He was found to have an atypical iris and optic disk nasal defect and a right-sided ptosis, which have not been previously reported with amniotic band syndrome.

Biotinidase Deficiency, Bilateral Optic Atrophy, and a Visual Field Defect.

We present an update on the ophthalmic status of a female patient with biotinidase deficiency who has attended our clinic for over 30 years. She is the only reported case of juvenile-onset glaucoma associated with biotinidase deficiency. Her intraocular pressure, optic nerve appearance, and visual field defect have, however, remained stable throughout her follow-up. We feel that this patient's visual field defect is a result of optic atrophy due to biotinidase deficiency in early life rather than glaucomatous damage.