To determine how Hardy-Rand-Rittler (HRR) colour vision testing correlates with visual functional and structural assessments in Cone and Cone-Rod Dystrophy. Thirty-four Cone and 69 Cone-Rod Dystrophy patients diagnosed by electroretinography (ERG) at the Save Sight Institute in Sydney were included in a retrospective analysis. Each patient’s HRR colour vision test scores were compared with markers of cone and rod system function including visual acuity (VA), ERG responses, changes on Spectral Domain Optical Coherence Tomography (OCT) and Fundus Autofluorescence. The number of plates identified on HRR testing correlated with logMAR best-corrected distance VA; r(101) = −0.49, p < 0.0001. HRR scores correlated with markers of cone and macula function including OCT Ellipsoid Zone Gap Width, Central Macular and Outer Nuclear Layer Thickness, Full Field ERG 30 Hz flicker amplitudes, light adapted 3.0 b-wave amplitudes and Pattern ERG 15- and 30-degree p50 amplitudes. HRR colour vision testing correlates with structural and functional measures in Cone and Cone-Rod Dystrophy. HRR colour vision testing provides a simple clinic-based option to monitor disease changes in Cone and Cone-Rod Dystrophy patients, especially when ERG testing is not available.

Severe vision impairment and blindness in childhood have a significant health burden on the child, family and society. This review article seeks to provide a structured framework for managing the apparently blind child presenting in the first year of life, starting from a comprehensive history and examination. Different investigation modalities and the increasingly important role of genetics will also be described, in addition to common causes of severe vision impairment. Crucially, a systematic approach to the blind infant is key to correct diagnoses and timely management. Incorrect diagnoses can be costly to all involved, however it is important to note that diagnoses can change with ongoing follow-up and investigations. Furthermore, the modern age of ophthalmology requires a multi-disciplinary approach and close collaboration with specialists including paediatricians, neurologists and geneticists, in addition to rehabilitation and low vision services, to ensure the best care for these vulnerable infants.

Purpose: To determine the prevalence of choroidal abnormalities (CAs) and Lisch nodules (LNs) in children who met the clinical diagnostic criteria (CDC) alone and those with a molecularly confirmed diagnosis (MCD) of neurofibromatosis type 1 (NF1), and to ascertain any differences between the groups. Methods: This was a cross-sectional observational study. All children who met the CDC and/or had MCD of NF1 and underwent eye examination were included. At least two CAs or LNs between the two eyes were set asa threshold to define the presence of either abnormality. Frequencies alongside 95% confidence intervals (CIs) were calculated. The relationship between patient age and the presence of LNs and/or CAs was estimated using logistic regression. Results: The study cohort included 94 patients; CAs (64%) were more prevalent than LNs (41%) (0.22; 95% CI, 0.08-0.36; P = 0.0023). The probability of the presence of LNs was lower than that of CAs across all ages (odds ratio = 0.37; 95% CI, 0.20-0.69; P = 0.00173). CAs were exclusively found in 37% of patients and LNs in 16%; 80% had either CAs or LNs, or both. In the CDC group (n = 41), the difference in prevalence (CAs = 68%, LNs = 51%) did not attain statistical significance (0.17; 95% CI, -0.06 to 0.40; P = 0.18). In the MCD group (n = 53), the difference in prevalence (CAs = 60%, LNs = 34%) was significant (0.26; 95% CI, 0.006-0.47; P = 0.023). Conclusions: CAs were more frequent than LNs in pediatric NF1 patients regardless of age and MCD status. Combining ophthalmological exams with near-infrared imaging will increase the diagnostic reach in pediatric NF1. Translational Relevance: CAs detected on near-infrared imaging are objective biomarkers in NF1. They are more prevalent and detected earlier in the pediatric popula-tion compared with LNs. Hence, the presence of CAs should be routinely ascertained in children suspected with NF1.

Hemizygous pathogenic variants in CACNA1F lead to defective signal transmission from retinal photoreceptors to bipolar cells and cause incomplete congenital stationary night blindness in humans. Although the primary defect is at the terminal end of first-order neurons (photoreceptors), there is limited knowledge of higher-order neuronal changes (inner retinal) in this disorder. This study aimed to investigate inner retinal changes in CACNA1F-retinopathy by analyzing macular ganglion cell layer-inner plexiform layer (GCL-IPL) thickness and optic disc pallor in 22 subjects with molecularly confirmed CACNA1F-retinopathy. Detailed ocular phenotypic data including distance and color vision, refraction and electroretinogram (ERG) were collected. Distance vision was universally reduced (mean: 0.42 LogMAR), six had abnormal color vision and myopia was common (n = 15; mean: −6.32 diopters). Mean GCL-IPL thickness was significantly lower in patients (55.00 µm) compared to age-matched controls (n = 87; 84.57 µm; p << 0.001). The GCL-IPL thickness correlated with scotopic standard (p = 0.04) and bright-flash (p = 0.014) ERG b/a ratios and photopic b-wave amplitudes (p = 0.05). Twenty-one patients had some degree of disc pallor (bilateral in 19). Fifteen putative disease-causing, including five novel variants were identified. This study establishes macular inner retinal thinning and optic atrophy as characteristic features of CACNA1F-retinopathy, which are independent of myopia and could impact potential future treatment strategies.

Eye disease due to pachymeningitis caused by immunoglobulin G4-related disease (IgG4-RD) is a rare occurrence. Here, the authors report a unique case of a patient presenting with visual loss from raised intracerebral pressure from pachymeningitis most likely related to IgG4-RD. The patient was treated with acetazolamide and steroids, and an optic nerve sheath fenestration was performed to successfully save the patients vision.

IgG4-related disease is a chronic fibroinflammatory disorder that is becoming increasingly recognized in the pediatric population. The orbit is one of the most commonly affected sites. We present the youngest case of IgG4-related ophthalmic disease in the literature, with an immunodeficiency phenotype associated with a homozygous IRAK-4 variant gene. We also review the clinical and histological features in children with IgG4-related ophthalmic disease. In addition to the young age of presentation, the case is unique for absence of lacrimal gland involvement, dural enhancement on magnetic resonance imaging, and an association with an IRAK-4 deficiency phenotype. Management required a multidisciplinary approach, with judicious use of immunosuppression. IgG4-related ophthalmic disease should be considered as a differential diagnosis in infants and children presenting with an orbital mass. Further, a particularly young age of onset may indicate an overarching immune dysregulation syndrome.

AimTo grade extraocular motility in the field of action of each extraocular muscle following superotemporal glaucoma drainage device (GDD) implantation in a paediatric population and to investigate which drainage device (Ahmed vs Baerveldt) yields less extraocular motility disturbance.MethodsCross-sectional study of children with a GDD implanted consecutively by a single surgeon who underwent ocular motility examination by two masked orthoptists. Ductions in the cardinal positions were graded. Ocular alignment, visual acuity, binocularity, stereopsis and intraocular pressure were also measured, and patient charts were reviewed.ResultsThirty children each had one eye included. Twenty-one eyes had an Ahmed GDD and 9 had a Baerveldt GDD. Mean time between GDD insertion and ocular motility exam was 68 months in the Ahmed group and 19 months in the Baerveldt group. Exotropia was present in 46% and vertical heterotropia in 46% of children post-GDD insertion. Thirty-three percent of eyes had a moderate or severe limitation of elevation in abduction, 30% of elevation in adduction, 10% of abduction and 10% of adduction. There was a trend towards more eyes in the Ahmed group (62%) having at least a moderate limitation in ocular motility (−2 or worse; scale −1 to −4) compared with the Baerveldt group (22%).ConclusionStrabismus is common in children with GDDs. Our motility and alignment findings are consistent with either a mass effect of the device and bleb and/or scarring beneath the plate in the quadrant of the GDD causing dysmotility, most commonly limitation towards the GDD.

Selective laser trabeculoplasty (SLT) has been used in the treatment of glaucoma for just over a decade. Here, we review the current literature in terms of suggested mechanism, efficacy, method of treatment, predictors of success, adverse events, repeatability, and cost of SLT. The exact mechanism by which SLT lowers intraocular pressure (IOP) remains unknown although circumstantial evidence has come in many forms in relation to structural alteration; oxidative stress and inflammatory responses; tight junction integrity; proliferative responses; and microbubble formation. SLT is as effective as argon laser trabeculoplasty and medications in reducing IOP in glaucoma and ocular hypertension. The treatment is not uniformly effective in all eyes, and its IOP-lowering effect decreases over time. High pretreatment IOP is the strongest predictor of success; however, significant pressure reduction has also been shown in normal-tension glaucoma and in patients already taking multiple antiglaucoma drops. Mild, transient adverse effects are common. Transient IOP spikes usually resolve quickly with or without antiglaucoma treatment but may be problematic in pigmented angles. The limited available evidence suggests SLT is repeatable and cost-effective for the treatment of glaucoma and ocular hypertension.

Selective laser trabeculoplasty (SLT) has been used in the treatment of glaucoma for just over a decade. Here, we review the current literature in terms of suggested mechanism, efficacy, method of treatment, predictors of success, adverse events, repeatability, and cost of SLT. The exact mechanism by which SLT lowers intraocular pressure (IOP) remains unknown although circumstantial evidence has come in many forms in relation to structural alteration; oxidative stress and inflammatory responses; tight junction integrity; proliferative responses; and microbubble formation. SLT is as effective as argon laser trabeculoplasty and medications in reducing IOP in glaucoma and ocular hypertension. The treatment is not uniformly effective in all eyes, and its IOP-lowering effect decreases over time. High pretreatment IOP is the strongest predictor of success; however, significant pressure reduction has also been shown in normal-tension glaucoma and in patients already taking multiple antiglaucoma drops. Mild, transient adverse effects are common. Transient IOP spikes usually resolve quickly with or without antiglaucoma treatment but may be problematic in pigmented angles. The limited available evidence suggests SLT is repeatable and cost-effective for the treatment of glaucoma and ocular hypertension.

AIM:To report a case of metastatic small-cell neuroendocrine carcinoma presenting as an isolated choroidal mass and initially misdiagnosed as a circumscribed choroidal hemangioma.METHODS:The clinical history, fundus findings, imaging, cytology and immunohistochemical features are described.RESULTS:An otherwise healthy 66-year-old man was referred for a left nasal scotoma and a diagnosis of circumscribed choroidal hemangioma. Cytology showed cohesive clusters of small-to-intermediate malignant cells. The atypical cells stained positively for chromogranin, thyroid transcription factor-1 and synaptophysin consistent with small-cell neuroendocrine carcinoma.CONCLUSION:Small-cell neuroendocrine carcinoma metastatic to the choroid is extremely rare; however, it is particularly aggressive and should be included in the differential diagnosis of isolated choroidal lesions, even in otherwise healthy patients.

Clinical & Experimental OphthalmologyVolume 42, Issue 9 p. 883-883 Letter to the Editor Novel technique for posterior placement of mitomycin-soaked sponges in glaucoma surgery Kate Leahy BMed, Kate Leahy BMed Westmead Hospital, Westmead, New South Wales, AustraliaSearch for more papers by this authorWendy Whittles RN, Wendy Whittles RN Parramatta Eye Hospital, Parramatta, New South Wales, AustraliaSearch for more papers by this authorAndrew White PhD FRANZCO, Andrew White PhD FRANZCO Westmead Hospital, Westmead, New South Wales, Australia Parramatta Eye Hospital, Parramatta, New South Wales, Australia Centre for Vision Research, Westmead Millennium Institute, University of Sydney, Sydney, New South Wales, Australia Save Sight Institute, University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this author Kate Leahy BMed, Kate Leahy BMed Westmead Hospital, Westmead, New South Wales, AustraliaSearch for more papers by this authorWendy Whittles RN, Wendy Whittles RN Parramatta Eye Hospital, Parramatta, New South Wales, AustraliaSearch for more papers by this authorAndrew White PhD FRANZCO, Andrew White PhD FRANZCO Westmead Hospital, Westmead, New South Wales, Australia Parramatta Eye Hospital, Parramatta, New South Wales, Australia Centre for Vision Research, Westmead Millennium Institute, University of Sydney, Sydney, New South Wales, Australia Save Sight Institute, University of Sydney, Sydney, New South Wales, AustraliaSearch for more papers by this author First published: 12 March 2014 https://doi.org/10.1111/ceo.12322 Competing/conflicts of interest: No stated conflict of interest. Funding sources: No stated funding sources. Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onEmailFacebookTwitterLinkedInRedditWechat No abstract is available for this article. References 1 Önol M, Aktaş Z, Hasanreisoğlu B. Enhancement of the success rate in trabeculectomy: large-area mitomycin-C application. Clin Experiment Ophthalmol 2008; 36: 316–322. 2 Khaw P, Dahlmann-Noor A, Mireskandari K. Trabeculectomy technique. Glaucoma Today 2005; 3: 22–29. 3 Healey P, Crowston J. Trypan blue identifies antimetabolite treatment area in trabeculectomy. Br J Ophthalmol 2005; 89: 1152–1156. 4 Knape RM, Smith MF. Antimetabolite application technique in trabeculectomy surgery. Clin Experiment Ophthalmol 2011; 39: 580–581. Volume42, Issue9December 2014Pages 883-883 ReferencesRelatedInformation

ImportanceTransient corneal endothelial changes are routinely noted on slit-lamp examination immediately following selective laser trabeculoplasty (SLT). BackgroundTo determine the mechanism of transient corneal endothelial changes observed following SLT. DesignUniversity laboratory-based observational study. SamplesTen corneas from six human cadaveric donors. MethodsCorneas were treated with SLT, direct laser or peroxide, or used as controls. Haematoxylin and eosin staining and immunolabelling for zonula occludens-1 (ZO-1) and beta-catenin were performed. Main Outcome MeasuresHistological appearance; ZO-1 and beta-catenin immunostaining. ResultsThere were no differences in histological features between SLT-treated and control corneas. Corneas treated with SLT or peroxide showed reduced and less regular ZO-1 immunofluorescence along cell membranes compared with ZO-1 expression in controls. These changes were generalized across the endothelium. There was no effect on the ZO-1 immunostaining after direct laser. There was no difference in beta-catenin immunostaining patterns between control, SLT and peroxide-treated corneas. Conclusions and RelevanceAltered ZO-1 immunostaining may represent disassembly of tight junctions between corneal endothelial cells. The similarity of our findings between SLT-treated and peroxide-treated corneas suggests that both conditions trigger changes at the level of endothelial tight junctions, perhaps triggered by liberation of free radicals as previously proposed.