Management and outcomes of congenital nasolacrimal duct obstruction in trisomy 21 patients vs. non-trisomy 21 patients within a paediatric population: a 5-year follow-up.

PURPOSE: To assess the management of patients with congenital nasolacrimal duct obstruction (CNLDO) in a paediatric population and review the long-term outcomes over a 5-year interval, with particular emphasis on the difference between patients with trisomy 21 and those without trisomy 21. METHODS: This single-centre, retrospective, cross-sectional, case review study included patients suffering from CNLDO at Alder Hey Children's Hospital NHS foundation Trust. Patients were divided into two groups: Non-trisomy 21 and trisomy 21. Patients were followed-up for a 60-month interval. Patients aged <12 months at the time of surgery, patients with <60 months of follow-up data and patients with acquired nasolacrimal duct obstruction were excluded. The main outcome measures were discharge rates in patients undertaking primary intervention with syringe and probe (S&P), number of patients requiring further treatment with lacrimal intubation or dacryocystorhinostomy (DCR) and overall symptom-free periods post-treatment. RESULTS: Ninety-three patients (142 eyes) were included. The mean number of surgical interventions was 1.53 ± 0.65. The mean interval between the 1st and 2nd intervention was 15.54 ± 16.33 months. There was a trend towards greater success rates non-trisomy 21 patients versus patients with trisomy 21 (p = 0.1352). The average symptom-free period after the final intervention was 44.31 ± 20.68 months, significantly longer in the non-trisomy 21 group compared to the trisomy 21 group (p = 0.0074). CONCLUSIONS: The overall success rate after primary S&P was 55.9%. Our results suggest that in trisomy 21 patients suffering from CNLDO, a one-stage intervention with primary monocanalicular intubation should be considered instead of sequential approach.

The incidence, clinical features, and management of essential infantile esotropia in the United Kingdom. A British Ophthalmology Surveillance Unit (BOSU) study.

BACKGROUND/OBJECTIVES: A national study was undertaken through the British ophthalmology surveillance unit (BOSU) to determine the incidence, presenting features and management of essential infantile esotropia (EIE) in the UK. METHODS: Data from a prospective national observational study of newly diagnosed EIE presenting to clinicians in the United Kingdom over a 12-month period were collected. Cases with a confirmed diagnosis by a clinician of a constant, non-accommodative esotropia ≥20 prism dioptres (PD), presenting at ≤12 months, with no neurological or ocular abnormalities were identified through BOSU. Follow-up data were collected at 12 months. RESULTS: A total of 57 cases were reported giving an incidence of EIE of 1 in 12,828 live births. The mean age of diagnosis and intervention were 7.05 ± 2.6 months (range 2-12) and 14.7 ± 4.9 months (range 6.5-28.1), respectively. Management was surgical in 59.6%, botulinum toxin alone in 22.8%, and 17.5% were observed. The preoperative angle of esotropia was smaller in the observation group (P = 0.04). The postoperative angle of esotropia was not statistically significant between botulinum toxin or surgery (P = 0.3), although the age of intervention was earlier in the botulinum group (P = 0.007). Early intervention (before 12 months of age) did not influence the post-intervention motor outcomes between 0 and 10 prism dioptres of esotropia (P = 0.78). CONCLUSIONS: The incidence of EIE in the UK is considerably lower than reported in other population-based studies. The preferred method of treatment was surgical with earlier intervention in those treated with botulinum toxin. An early age of intervention (<12 months) did not influence motor outcomes.

Lipoid proteinosis; a rare pathology, requiring multidisciplinary input.

A male patient in his early childhood presented to rheumatology with a hoarse voice and recurrent oral and cutaneous ulceration. Serological investigation revealed persistently elevated inflammatory markers. Despite compliance to treatment, flare-ups persisted, prompting the use of further treatment. An airway endoscopy revealed cystic changes to the left vocal cord. Referral to ophthalmology revealed multiple, waxy, skin-coloured, beaded papules on thickened, irregular eyelid margins with distichiasis, in keeping with moniliform blepharosis. Enrolment into the 100 000-genome project helped clinch the diagnosis of lipoid proteinosis. Although this case highlights the diagnostic power of genetics, it also sheds light on the importance of targeted clinical referral. When one considers the typical symptoms and signs of lipoid proteinosis, referral to a centre of rare diseases would have proven effective in not only avoiding polypharmacy but also reducing the psychological burden of several years of uncertainty must have had on our patient.

Changing trends in pseudoretinoblastoma diagnoses: A 10 year review from the United Kingdom.

AIM: To study the different types and frequency of pseudoretinoblastoma (pseudoRB) lesions who present to a retinoblastoma centre due to concern that the condition may be retinoblastoma. METHODS: A retrospective chart review of 341 patients presenting sporadically to the Royal London Hospital from January 2009 to December 2018. RESULTS: 220 patients (65%) were confirmed to have retinoblastoma, while 121 (35%) had pseudoRB. There were 23 differential diagnoses in total. The top 3 differential diagnoses were Coats' disease (34%), Persistent Foetal Vasculature (PFV) (17%) and Combined Hamartoma of Retina and Retinal Pigment Epithelium (CHR-RPE) (13%). PseudoRBs differed with age at presentation. Under the age of 1 (n = 42), the most likely pseudoRB conditions were PFV (36%), Coats' disease (17%) and CHR-RPE (12%). These conditions were also the most common simulating conditions between the ages of 1 and 2 (n = 21), but Coats' disease was the most common in this age group (52%), followed by CHR-RPE (19%) and PFV (14%). Between the ages of 2 and 5 (n = 32), Coats' disease remained the most common (44%) pseudoRB lesion followed by CHR-RPE (13%), or PFV, Retinal Astrocytic Hamartoma (RAH), familial exudative vitreoretinopathy (FEVR) (all 6.3%). Over the age of 5 (n = 26), pseudoRBs were most likely to be Coats' disease (35%), RAH (12%), Uveitis, CHR-RPE, FEVR (all 7.7%). CONCLUSION: 35% of suspected retinoblastoma cases are pseudoRB conditions. Overall, Coats' disease is the most common pseudoRB condition, followed by PFV. Hamartomas (CHR-RPE & RAH) are more prevalent in this cohort, reflecting improvements in diagnostic accuracy from referring ophthalmologists.

Identification of a novel CRB1 variant in a compound heterozygous state in a patient with CRB1-associated maculopathy and foveal retinoschisis.

PURPOSE: To report a novel CRB1 variant responsible for autosomal recessive foveal retinoschisis and its associated clinical and electrophysiological data. METHODS: A case report. RESULTS: A 15-year-old boy has foveal retinoschisis similar to those seen in X-linked retinoschisis (XLRS). During follow-up, we observed the co-existence of foveoschitic changes and parafoveal macular atrophy. Molecular genetic testing identified compound heterozygous variants in the CRB1 gene, including a novel variant, c.3878 G > A, predicted to disrupt the normal translation of CRB1 and a previously reported likely pathogenic mutation, c.498_506del. Full-field electroretinograms (ERG) were normal but multifocal ERG showed focal reduced waveform amplitude corresponding to the area of atrophy. CONCLUSIONS: A novel missense variant existing in a compound heterozygous state was identified. Biallelic CRB1 mutations can cause anatomical fovea disruption similar to XLRS but have very different electroretinogram findings. This case report enhances our understanding of the spectrum of biallelic CRB1 mutations.

The Impact of the First Peak of the COVID-19 Pandemic on a Paediatric Ophthalmology Service in the United Kingdom: Experience from Alder Hey Children's Hospital.

OBJECTIVE: The COVID-19 pandemic has led to significant service loss across the NHS, and ophthalmology is one of the greatest affected specialties. We attempt to quantify the impact of the first peak of the COVID-19 pandemic on a paediatric ophthalmology unit in a children's hospital in the United Kingdom (UK) and report lessons learnt to aid in the recovery of the service. METHODS AND ANALYSIS: Two eight-week periods of clinical activity were compared; one during the first UK peak of the COVID-19 pandemic and the other during a similar period the previous year. Four areas of clinical activity were included in the study: outpatient clinic appointments, theatre activity, outpatient referrals to ophthalmology and ward reviews. Appointment data was collected from departmental databases. RESULTS: During the first peak of the pandemic, outpatient clinic appointments were reduced by 87.2%, ophthalmic surgery by 90.9%, outpatient referrals to ophthalmology by 50.2% and ward reviews by 50%. The number of actual cancelled appointments was 1377, of which 6.8% were triaged as suitable for teleophthalmology. CONCLUSION: The COVID-19 pandemic has dramatically restricted clinical activity in the ophthalmology service. Paediatric ophthalmology is vulnerable to capacity issues and the consequences of delayed or cancelled appointments. Departments must adapt quickly and maximise capacity to help reduce the backlog and treat patients effectively and safely. Solutions such as teleophthalmology have potential although can be difficult in the paediatric population.

The frequency of severe corneal opacities in premature infants.

PURPOSE: To study the frequency and possible causes of severe corneal opacities in premature infants undergoing retinopathy of prematurity (ROP) screening in the neonatal intensive care unit (NICU) at a single institution. METHODS: The medical records of all infants screened for ROP in the NICU between January 2015 and March 2019 were reviewed retrospectively. Criteria for screening were gestational age (GA) of <32 weeks or birth weight (BW) <1501 g. Characteristics of premature infants with severe corneal opacities were extracted from the record. RESULTS: A total of 445 premature infants were screened during the 51-month period. The prevalence of severe corneal opacities was 1.4% (6 infants). The median GA of the affected infants was 24.5 weeks (range, 23-32), and the mean BW was 624 g (range, 500-860 g). Two infants had lagophthalmos; their corneal opacity was unilateral. All the infants were under continuous positive airway pressure (CPAP) for a prolonged period. All 4 infants with bilateral corneal opacities required treatment for severe ROP-laser (n =1), bevacizumab injection (n = 1), or both (n = 2). CONCLUSIONS: Severe corneal opacities in premature infants are rare but potentially sight threatening, because they can hinder the retinal examination. Lagophthalmos-related exposure keratopathy is an obvious risk factor. CPAP therapy may be another risk factor leading to the development of severe corneal opacities. Identification of infants at risk and prompt commencement of lubricants is necessary to avoid long-term corneal opacities.

Herpes simplex keratoconjunctivitis in the immediate postoperative period after strabismus surgery.

The authors describe the case of bilateral herpes simplex keratoconjunctivitis (HSK) following uncomplicated 7 mm bilateral lateral rectus recessions in a 3-year-old child. The recovery was initially unremarkable, and the standard postoperative drops of dexamethasone and chloramphenicol (non-preservative free) were prescribed. The child presented 8 days postoperatively with fever, right upper lid swelling and ptosis. She was admitted for intravenous antibiotics for suspected pre-septal cellulitis. Over the next 2 days, she deteriorated with bilateral lid involvement. An examination under anesthesia (EUA) revealed bilateral corneal epithelial (dendritic and geographical) ulcers with conjunctival erosions and pseudo membranes prompting a diagnosis of HSK. This was confirmed by polymerase chain reaction (PCR) testing. The child recovered within 2 weeks after starting oral and topical antiviral medication. This case highlights the importance of EUA in infections not responding to standard treatment. Although HSK is known to occur after topical steroid use and ocular surgery, we were not able to find any other cases in the literature and believe this is the first reported case of bilateral HSK in the immediate postoperative period after strabismus surgery.

Using two smartphones to look for corneal cystine crystals.

Cystinosis, a rare autosomal recessive lysosomal storage disease, can be difficult to detect. The most common form of the disease is infantile or nephropathic cystinosis. Crystals can accumulate in the eye as early as 1 year of age. Early recognition and prompt investigations prevent further accumulation of cystine and resultant end-organ injury. The disease is usually confirmed through biochemical and genetic testing, which can be time consuming. Looking for cystine corneal deposits remains an important diagnostic criterion and is the least invasive test to perform. It is recommended that ophthalmic manifestations of cystinosis be confirmed by an ophthalmologist. We describe the case of a 3-year-old girl who presented with worsening emesis, pyrexia, and lethargy, and was diagnosed with infantile cystinosis. This case is used to present a technique that can facilitate the preliminary search for corneal cystine crystals by using equipment as readily available as two smartphones. The technique may be easily used in a variety of settings, including hospitals, clinics, and primary care centers where there is delayed or difficult access to ophthalmologists.

Endoscopy for Pediatric Retinal Disease.

Endoscopic vitrectomy is a useful and unique adjunct to microincision vitreoretinal surgery. The optical properties of endoscopy allow for some clinically advantageous approaches that are not possible with regular microscope viewing systems, namely, the ability to both bypass optically signficant anterior segment opacities and directly visualize dificult-to-access retroirideal, retrolental, and anterior retinal structures in their natural anatomical configuration. The surgical benefits include improved surgical access to the pars plana, pars plicata, ciliary sulcus, ciliary body, and peripheral lens, along with unique access to anterior traction in complex pediatric anterior detachments, particularly in retinopathy of prematurity. This review will focus on the development and surgical utility of intraocular endoscopy, provide an update on its current uses in the era of microincision vitreoretinal surgery, and highligh its role in pediatric vitreoretinal diseases.

Central retinal artery occlusion in a 30-year-old woman taking tranexamic acid.

We present a case of a 30-year-old woman who suffered a central retinal artery occlusion while taking tranexamic acid. She had no vascular risk factors and was placed on the drug for treatment of menorrhagia. After 1 month of taking the drug, she suffered a central retinal artery occlusion in her left eye. Tranexamic acid was discontinued to prevent vision loss in the following eye. She remains with no perception of light vision in the affected eye.