Nystagmus in Down Syndrome - a Retrospective Notes Review.

Introduction: Nystagmus has been reported in up to 30% of people with Down Syndrome (DS), and yet is still not well understood. Our study aims to characterise the clinical features of patients with DS and nystagmus. Methods: A retrospective medical-records review was conducted of all patients with a diagnosis of DS and nystagmus seen at Moorfields Eye Hospital over a ten-year period. Results: Fifty-one subjects were identified, with complete data in 48. The mean age at presentation was 5.1 years (range 0-26 years). The mean binocular LogMAR visual acuity was 0.55(95%CI 0.53-0.57), mean refractive error was -1.8 Dioptre Sphere, DS (95% CI - 5.251.63) with -1.2 Dioptre Cylinder, DC (95% CI - 1.6-0.7). Ocular misalignment was found in 50% of patients. A diagnosis of Fusion Maldevelopment Nystagmus Syndrome (FMNS) was made in 6.3%, Infantile Nystagmus Syndrome (INS) in 8.4% and ABducting nystagmus/Inter-Nuclear Ophthalmoplegia (INO) in 2.1%. The descriptive term 'Manifest Horizontal Nystagmus'(MNH) was used in the majority, highlighting the difficulties in clinically differentiating the subtypes of nystagmus in DS. Eleven patients had associated cataract. Additional diagnoses unrelated to DS were made in 10.4%. Conclusions: The most frequent type of nystagmus in our cohort was 'presumed' INS. This study highlights the importance of differentiating between FMNS and INS (with a latent component), so that further investigations can be performed as appropriate. Almost 25% had associated cataract, and a further 10% other diagnoses un-associated to DS. Despite INS being known to be associated with DS, further investigations may be required in a small subset with true INS after careful clinical assessment and use of eye movement recordings (where available).

Optic atrophy in children: Current causes and diagnostic approach.

BACKGROUND/AIMS: Optic atrophy is one of the leading causes of sight impairment in children. It frequently poses a diagnostic challenge, as it can be caused by many ocular and systemic conditions. We aimed to determine the current causes of optic atrophy at our centre and to describe the use of investigations, including molecular genetic testing. METHODS: We reviewed the medical records of children with optic atrophy seen at Moorfields Eye Hospital between 2010 and 2015. We recorded demographic data, reason for referral, history, investigations and diagnosis. RESULTS: We studied 143 cases aged below 16 years. A cause could be identified in all cases. Taking a full history was the most important part of the diagnostic workup, identifying a cause in 96 (67%) children. A developmental disorder of the brain and/or optic nerve, sometimes with retinal involvement, was the commonest cause (n = 33, 23%), followed by inheritable optic neuropathies (n = 27, 19%). Other causes included perinatal insults (n = 18, 13%), post-infectious or post-inflammatory conditions (n = 18, 13%), accidental or abusive trauma (n = 14, 10%) and inheritable retinal dystrophies (n = 13, 9%). Rare conditions included neurodegenerative disorders (n = 7, 5%), skeletal developmental disorders such as rickets (n = 4, 3%), tumours (n = 4, 3%), ischaemic events including large optic nerve head drusen (n = 4, 3%) and toxic events/metabolic conditions (n = 1, 0.7%). CONCLUSION: In this series, an underlying cause could be identified in all cases. Taking a comprehensive antenatal, perinatal, postnatal and family history will indicate a probable diagnosis in two-thirds of children, and targeted ancillary tests may identify the cause in most remaining cases.

The differences between patient and optometrist experiences of contact lens hygiene education from the perspective of a Scottish university teaching hospital.

BACKGROUND: Contact lens related keratitis is a frequent presentation to acute ophthalmology services. Patients often do not recall being counselled regarding the safe use of contact lenses therefore fail to comply with guidance. This study aimed to identify the content and format of advice given to patients with contact lens keratitis concerning appropriate hygiene practices, determine their compliance with this and finally characterise optometrist practices regarding contact lens advice provided to patients. METHODS: All adult patients presenting with contact lens related keratitis to the acute ophthalmology clinic were asked to complete a survey. Information was collected on lens type, format of advice received and compliance. Community optometrists were asked to complete an electronic survey on their contact lens review practices and routine patient education. RESULTS: All patients surveyed recalled counselling on initiation of contact lenses; however 12% (6/50) were given no advice on return visits. This advice was in written format for 20% (10/50) of patients on initiation increasing to 32% (16/50) on renewal. Many patients slept (22%), showered (44%) or swam (36%) in lenses. 92% cleaned their contact lenses appropriately, but cases were washed infrequently (19% of cases cleaned < monthly) or with tap water (27%). All optometrists surveyed claimed to provide advice to patients in either written or verbal format for new and returning contact lens users. 49% (16/33) of optometrists gave written advice to patients on initial contact lens fitting, but only 1/33 continued with written advice for repeat customers. CONCLUSION: This study identified that although most patients were informed of appropriate hygiene requirements, compliance was poor. Optometrists regularly provide verbal advice but do not routinely offer written support and there is a mismatch between patient recollection and self-reported optometrist practice. It is suggested that patient education needs greater emphasis and both verbal and written information should be regularly provided on initial review and follow up assessments.

Treatment of corneal cystine crystal accumulation in patients with cystinosis.

Cystinosis is a rare autosomal recessive disorder characterized by the accumulation of cystine within the cells of different organs. Infantile nephropathic cystinosis is the most common and severe phenotype. With the success of renal transplantation, these patients are now living longer and thus more long-term complications within different organs are becoming apparent. Ophthalmic manifestations range from corneal deposits of cystine crystals to pigmentary retinopathy. With increasing age, more severe ocular complications have been reported. Photophobia is a prominent symptom for patients. With prolonged survival and increasing age, this symptom, along with corneal erosions and blepharospasm, can become debilitating. This review revisits the basic pathogenesis of cystinosis, the ocular manifestations of the disease, and the treatment of corneal crystals.

Macular optical coherence tomography findings following blunt ocular trauma.

This case report describes the optical coherence tomography (OCT) results of Berlin's edema in a male subject following blunt ocular trauma from a soccer ball. A 27-year-old male presented with blurred vision in his left eye following blunt trauma. On admission, he underwent a complete eye examination and an OCT of the macula. Fundoscopy revealed commotio retinae, observed as an abnormal cream-colored discoloration of the fovea. The OCT showed outer photoreceptor segment disruption, retinal pigment epithelium inter-digitation, and intra-retinal edema of the outer nuclear layer. Following initial management, a repeat OCT after 3 months showed near complete resolution. OCT can be a useful adjunct for monitoring the progress of Berlin's edema secondary to blunt ocular trauma because Berlin's edema may present similarly clinically to other ocular trauma, but can affect different layers of the retina depending on the type of injury to the eye.