PHOTORECEPTOR DAMAGE IN TERSON SYNDROME.

PURPOSE: To describe photoreceptor damage in patients with Terson syndrome as a potential cause for inconsistent clinical outcomes. METHODS: Clinical evaluation and retinal imaging in six patients. RESULTS: Four patients were women and two men, with an average age of 46.8 years (SD 8.9). Four patients suffered aneurysmal subarachnoid hemorrhage, one vertebral artery dissection, and one superior sagittal sinus thrombosis. In 11 eyes, a consistent pattern of outer retinal changes within the central retina affecting the ellipsoid zone and the outer nuclear layer was observed, indicating photoreceptor damage. Areas of photoreceptor damage showed poor spatial correlation with intraocular hemorrhage, particularly subinternal limiting membrane hemorrhage. The observed retinal abnormalities demonstrated incomplete recovery over long-term follow-up 3.5 to 8 years posthemorrhage, irrespective of surgical or conservative treatment strategy, and had variable impact on the patients' visual function. CONCLUSION: The observations suggest that photoreceptor damage in Terson syndrome likely represents a distinct manifestation of this condition, which could be caused by transient ischemia of the outer retina secondary to acute rise in intracranial pressure.

Analysis of Early Cone Dysfunction in an In Vivo Model of Rod-Cone Dystrophy.

Retinitis pigmentosa (RP) is a generic term for a group of genetic diseases characterized by loss of rod and cone photoreceptor cells. Although the genetic causes of RP frequently only affect the rod photoreceptor cells, cone photoreceptors become stressed in the absence of rods and undergo a secondary degeneration. Changes in the gene expression profile of cone photoreceptor cells are likely to occur prior to observable physiological changes. To this end, we sought to achieve greater understanding of the changes in cone photoreceptor cells early in the degeneration process of the Rho-/- mouse model. To account for gene expression changes attributed to loss of cone photoreceptor cells, we normalized PCR in the remaining number of cones to a cone cell reporter (OPN1-GFP). Gene expression profiles of key components involved in the cone phototransduction cascade were correlated with tests of retinal cone function prior to cell loss. A significant downregulation of the photoreceptor transcription factor Crx was observed, which preceded a significant downregulation in cone opsin transcripts that coincided with declining cone function. Our data add to the growing understanding of molecular changes that occur prior to cone dysfunction in a model of rod-cone dystrophy. It is of interest that gene supplementation of CRX by adeno-associated viral vector delivery prior to cone cell loss did not prevent cone photoreceptor degeneration in this mouse model.

A quality of life survey in patients with long-term silicone oil or phthisis bulbi.

AIM: The aim of this study is to determine whether there is any difference in the quality of life of patients with a blind eye with long-term silicone oil compared to without. METHOD: Patients with either long-term silicone oil in situ (N = 17), defined as a period greater than 6 months duration with no plan for future removal, or those with a phthisical, non oil-filled eye were identified (N = 13). Two validated questionnaires (NEI VFQ-25 and the FACE-Q) that cover indicators for visual function, pain and cosmesis were sent to all patients in the two cohorts. RESULTS: There was no significant difference found in quality of life outcomes between the two groups in terms of visual function, pain or cosmesis. CONCLUSION: The results of this study support a holistic approach to the consent process before vitreoretinal surgery. Patients that may need to undergo multiple vitreoretinal procedures, where the endstage result is a long-term silicone oil fill, should be informed that their functional outcome may be similar to having no surgical intervention.

Treatment outcomes for maculopathy secondary to retinal vein occlusion in Afghanistan.

OBJECTIVES: The objective of this study was to investigate the efficacy of intravitreal antivascular endothelial growth factor (VEGF) therapy in the treatment of macular edema secondary to retinal vein occlusion (RVO) in Afghanistan. METHODS: A retrospective analysis was conducted of all RVO cases that underwent intravitreal ant-VEGF injection at the two leading hospitals in Kabul. The main outcome measures were visual acuity and central retinal thickness as determined by optical coherence tomography. Information was also collected on the distance traveled by each patient and the frequency of injections. RESULTS: One hundred and twenty-five eyes of 121 patients (86 males) with RVO were identified as having undergone treatment, with a mean age of 53.1 years (range 20-80). The only agent used was bevacizumab. The mean central retinal thickness reduced from 624.2 ± 24.9 µm at the baseline to 257.8 ± 5.7 µm following treatment (P < 0.001). There was a small increase in visual acuity from 1.33 LogMAR at the baseline to 1.13 LogMAR following the most recent injection (P = 0.03, paired t-test). The mean distance traveled by patients was 173.9 km (range 2-447 km). CONCLUSION: Despite the challenges of health-care provision in Afghanistan, this review shows that the use of intravitreal bevacizumab has provided an effective treatment for macular edema after RVO.

Surgical outcomes in only eye cataract surgery.

INTRODUCTION: Performing cataract surgery in the setting of only one seeing-eye has significant benefits but also potential negative consequences for both patient and surgeon. This study investigates the surgical outcomes in patients undergoing cataract surgery on their only seeing-eye. METHODS: A retrospective analysis was conducted in a single tertiary centre of all adult patients who had undergone cataract surgery on their only eye, where the fellow eye had a vision of 1.0 LogMAR or worse. Complication rates and visual outcomes were compared against data from the National Ophthalmology Database (NOD) Audit. RESULTS: 918 patients underwent cataract surgery on their only seeing-eye and had their postoperative visual acuity recorded. The overall unadjusted complication rate was 4.0% (versus 2.5% from NOD data) with the rate of posterior capsule rupture (PCR) being 1.9% (versus 1.14% from NOD data). 72.5% (versus 91.5% from NOD data) of patients attained a post-operative visual acuity of 0.3 LogMAR or better. The grade of surgeon performing the surgery did not have a statistically significant effect on the risk of complications. DISCUSSION: In this cohort of only-eye patients undergoing cataract surgery, there was a small increased risk of operative complications including an increased, unadjusted risk of PCR, and fewer eyes achieved 0.3 LogMAR vision post-operatively compared to the NOD audit data. Grade of surgeon did not have an impact on the complication rate, indicating that with appropriate supervision, trainee surgeons may gain experience in only-eye surgery without additional risk to the patient. Further multicentre studies are recommended to assess reproducibility across units.

Treatment of a lacrimal pneumocele with punctal plug insertion.

A 37-year-old man presented with symptoms of air and mucus reflux from the right medial canthus on blowing his nose. Examination showed crepitus in the region overlying the right lacrimal sac, and he was able to produce bubbles in his conjunctival lake on instillation of topical 2% fluorescein. Dacryoscintigraphy showed symmetrical slow passage of tracer from the lacrimal sac in the nasolacrimal duct indicating delay at the postsac level. Dacryocystography showed that the right lacrimal system contained round filling defects, suggesting the presence of soft tissue tumors. However, a CT scan showed an enlarged right lacrimal fossa with air in the nasolacrimal duct and no evidence of a mass. Following lower punctal plug occlusive canaliculoplasty on the right, using a preloaded silicone plug, the patient noted an immediate resolution of reflux symptoms.

Scleral contact lens usage in patients with complex blepharoptosis.

PURPOSE: To evaluate the efficacy of scleral contact lenses (ScCLs) as an alternative or as an adjunct to surgical correction for the management of complex ptosis. METHODS: A retrospective case-note review was used to determine the subjective function and cosmetic acceptability of the lenses. Digital photographs were taken, both with and without the lens in place; analytic software was used to assess the vertical height of the palpebral aperture (PA) and the upper margin-reflex distance. Three masked observers independently graded the photographs for cosmesis as "good," "moderate," or "poor." RESULTS: Ten patients (6 male) had been wearing ScCLs in 14 treated eyes for between 1 and 40 years (mean, 10.3 years; median, 3 years). Without a lens, the mean PA was 4.9 mm (median, 5.1 mm; range, 1.7-7.1 mm), increasing to 9.5 mm (median, 8.9 mm; range, 5.8-14.8 mm) with the lens in place (p < 0.005). Likewise, the upper margin-reflex distance increased from 0.39 mm (median, 0.03 mm; range, 0-2.4 mm) without a lens in place to 3.1 mm (median, 2.7 mm; range, 1.5-5.8 mm) with lens wear (p < 0.005). In 6 patients with unilateral ScCL wear, mean PA was 10.4 mm in the treated eye and 8.4 mm in the eye without a lens (p = 0.22). All patients who were wearing ScCLs long term found them to be both comfortable and cosmetically acceptable. On subjective grading of photographs, however, the cosmesis was judged as "good" in 22%, "moderate" in 64%, and "poor" in 14%. CONCLUSION: In some patients, ScCLs provide a well-tolerated and practical long-term solution to safely elevating the upper eyelid in which complex ptosis is present. The patients in our cohort seem to be satisfied with the cosmesis, although there are some limitations to this aspect when viewed subjectively.

Risk of iatrogenic peripheral retinal breaks in 20-G pars plana vitrectomy.

PURPOSE: To estimate the frequency and risk factors for entry site and other peripheral iatrogenic retinal breaks in eyes undergoing standard 20-G 3-port pars plana vitrectomy. DESIGN: Single-center, retrospective, interventional case series. PARTICIPANTS: A total of 645 eyes undergoing pars plana vitrectomy at Moorfields Eye Hospital during the period June 1, 2005, to June 1, 2006, for indications excluding rhegmatogenous retinal detachment. METHODS: Case note review. Exclusion criteria were preexisting retinal breaks or rhegmatogenous retinal detachment, previously vitrectomized eyes, and iatrogenic breaks posterior to the equator. MAIN OUTCOME MEASURES: Frequency, anatomic location, and risk factors associated with iatrogenic peripheral retinal breaks and rate of postoperative rhegmatogenous retinal detachment. RESULTS: Iatrogenic peripheral retinal breaks occurred in 98 of 645 eyes (15.2%) intraoperatively. Eleven of 645 cases (1.7%) experienced postoperative rhegmatogenous retinal detachment caused by undetected or new peripheral retinal breaks. Breaks were most common during surgery for tractional retinal detachment (22.2%), macular hole (18.1%), dislocated intraocular lens implants (16.7%), and epiretinal membrane (13.9%). Overall, breaks were more common in the superior retina (P<0.01), with 41.5% occurring in the 10 and 2 o'clock positions. Eyes requiring surgical induction of a posterior vitreous detachment had 2.9 times greater odds of developing iatrogenic peripheral retinal breaks (95% confidence interval, 1.8-4.7, P<0.001) than eyes with preexisting posterior vitreous detachment. Similarly, phakic eyes had 2.4 times higher odds (95% confidence interval, 1.42-3.96, P = 0.001) of break formation. CONCLUSIONS: Iatrogenic peripheral retinal breaks caused by vitrectomy are more common than previously indicated. Approximately 4 in 10 breaks are related to traction at sclerotomy entry sites. Eyes undergoing surgery for tractional retinal detachment seemed to have the highest risk for break formation. Similarly, phakic eyes and eyes that require induction of a posterior vitreous detachment have more than double the risk for break formation.

Implantation of the black diaphragm intraocular lens in congenital and traumatic aniridia.

OBJECTIVE: To evaluate the biometry accuracy, visual outcomes, and long-term changes in intraocular pressure after implantation of the black diaphragm intraocular (BDI) lens in cases of aniridia. DESIGN: Retrospective, interventional case series. PARTICIPANTS: Forty eyes of 35 patients with aniridia (15 eyes of congenital origin and 25 as a result of trauma). METHODS: Patient demographics, clinical evolution, and treatment were analyzed for each case undergoing implantation with the Morcher 67F BDI lens (Morcher GmBH, Stuttgart, Germany). MAIN OUTCOME MEASURES: Biometry accuracy, visual outcome, and the development of glaucoma and other complications in these eyes over a mean of 3.5 years. RESULTS: Using the recommended A constant of 118.7, the mean biometry prediction error was -0.12+/-0.44 diopters (D), with a mean absolute error of 1.47+/-0.29 D, equivalent to 80% of target eyes being within 2 D of predicted refraction. The prevalence of glaucoma increased from 10 (25%) of 40 eyes before surgery, to 22 (55%) of 40 eyes at 1 year after surgery. The best-corrected visual acuity in logarithm of the minimum angle of resolution (logMAR) units improved significantly in the 25 eyes with traumatic aniridia, from 1.34+/-0.22 to 0.54+/-0.16 (20/400 to 20/70; P<0.001). In contrast, no significant improvement was seen in the 15 eyes with congenital aniridia, whose preoperative logMAR visual acuity of 1.17+/-0.14 improved to 1.01+/-0.21 (20/300 to 20/200; P = 0.20). CONCLUSIONS: Biometry is reasonably accurate when implanting the BDI lens for aniridia. Glaucoma is the main complication and occurred immediately after surgery, suggesting a possible direct mechanical effect of the large BDI lens. Significantly better visual outcomes were seen when using the 67F BDI lens for traumatic aniridia compared with congenital aniridia. Implantation of the BDI lens in congenital aniridia therefore should be approached with caution, because the recreation of an iris diaphragm does not confer the expected optical benefits in these eyes.

Undiagnosed type 2 diabetes mellitus presenting with orbital cellulitis.

The authors describe the case of a 48 years old woman who presented with a one week history of a painful, swollen left eye with proptosis and diplopia. A computed tomography (CT) scan showed features of left orbital cellulitis, and blood tests and urinalysis confirmed the diagnosis of diabetes mellitus. The infection resolved following a course of intravenous antibiotics and with glycaemic control. To our knowledge, undiagnosed diabetes mellitus presenting with orbital cellulitis has not previously been reported.

A Novel Achromatopsia Mouse Model Resulting From a Naturally Occurring Missense Change in Cngb3.

Purpose: A local colony of inbred mice (129S6/SvEvTac origin), in isolation for over a decade, were found to have absent light-adapted electroretinogram (ERG) responses. We investigated the inheritance and genetic basis of this phenotype of cone photoreceptor function loss. Methods: An affected 129S6/SvEvTac colony animal was outcrossed to a C57BL/6J mouse and intercrossed to investigate inheritance in the F2 generation. We performed ERG testing and targeted resequencing on genes of interest (Gnat2, Cnga3, Cngb3, Pde6c, Hcn1, Syne2). The eyes of a subset of animals underwent histologic immunostaining. Results: All 129S6/SvEvTac colony animals tested lacked cone pathway function by ERG testing (n = 12), although rod pathway-based ERG responses remained unaffected. Outcross-intercross breeding showed a recessive inheritance pattern. A novel missense mutation was identified in the Cngb3 gene, which causes an amino acid substitution at a conserved residue (NM_013927)c.692G>A; p.(R231H). The recessive phenotype only affected homozygotes (χ2 = 39, P = 3.2e-10). Cones had normal morphology at postnatal day (PND) 70, but cone cell counts declined from PND 30 to PND 335 (P = 0.038), indicating progressive cone photoreceptor death. Conclusions: We identified the spontaneous occurrence of a 10th model of cone photoreceptor function loss (cpfl10) in an isolated line of inbred mice. Our results indicate that this is caused by a novel missense mutation in the Cngb3 gene, with a fully recessive inheritance pattern. This mouse may provide a more appropriate background against which to assess CNGB3 achromatopsia gene therapy for missense mutations.

Sub-Tenon's block complicated by subconjunctival cilia.

We describe an unusual case of symptomatic eyelash entrapment in the subconjunctival space following a sub-Tenon's block. This case emphasizes the need for vigilance in patients reporting a persistent foreign-body sensation following surgery with this common modality of anesthesia.

Transplanted photoreceptor precursors transfer proteins to host photoreceptors by a mechanism of cytoplasmic fusion.

Photoreceptor transplantation is a potential future treatment for blindness caused by retinal degeneration. Photoreceptor transplantation restores visual responses in end-stage retinal degeneration, but has also been assessed in non-degenerate retinas. In the latter scenario, subretinal transplantation places donor cells beneath an intact host outer nuclear layer (ONL) containing host photoreceptors. Here we show that host cells are labelled with the donor marker through cytoplasmic transfer-94±4.1% of apparently well-integrated donor cells containing both donor and host markers. We detect the occurrence of Cre-Lox recombination between donor and host photoreceptors, and we confirm the findings through FISH analysis of X and Y chromosomes in sex-discordant transplants. We do not find evidence of nuclear fusion of donor and host cells. The artefactual appearance of integrated donor cells in host retinas following transplantation is most commonly due to material transfer from donor cells. Understanding this novel mechanism may provide alternate therapeutic strategies at earlier stages of retinal degeneration.

Unsutured phakic implantation of a black intraocular lens in the sulcus to treat leukocoria.

UNLABELLED: We describe a 40-year-old woman with von Hippel-Lindau syndrome, secondary chronic exudative retinal detachment, and white cataract with consequent leukocoria. Because the cataract was contracted and calcified, a black Morcher 85F poly(methyl methacrylate) IOL was implanted in the ciliary sulcus anterior to the lens to prevent posterior capsule rupture and potential destabilization of the retinal detachment with a risk for phthisis. Excellent centration of the black IOL was achieved with good cosmetic outcome and without postoperative uveitis or glaucoma. We suggest that this is a rare indication for implantation of an IOL designed for the sulcus but in the presence of the crystalline lens. This approach makes IOL removal, if necessary at a later date, relatively straightforward. FINANCIAL DISCLOSURE: No author has a financial or proprietary interest in any material or method mentioned.

Cone photoreceptor neuroprotection conferred by CNTF in a novel in vivo model of battlefield retinal laser injury.

PURPOSE: To develop a reproducible laboratory model to simulate a battlefield foveal laser injury and to test potential neuroprotective effects of a single injection treatment that might be administered in a military setting. METHODS: Frequency-doubled 532-nm Nd:YAG laser was used to induce a threshold retinal injury bilaterally in transgenic reporter mice that have fluorescent cones. Intravitreal injection of ciliary neurotrophic factor (CNTF) was then administered to the lasered eye and compared with a contralateral sham injection of saline. The effect on fluorescent cone cell survival was quantified using a confocal scanning laser ophthalmoscope (cSLO), TUNEL assays, and quantitative real-time PCR (qPCR). RESULTS: At 3 weeks post-laser, cSLO imaging showed that the proportion of surviving cones expressing green fluorescent protein (GFP) was greater in CNTF-treated (54.1 ± 5.15% of baseline count) than in sham-injected eyes (28.7 ± 4.4%), which was accompanied by a reduction in TUNEL-positive cells. This difference in cone survival persisted at the 6-week point (treated, 39.6 ± 3.2% versus sham, 18.0 ± 3.8%). These changes were accompanied by a reduction in TUNEL-positive cells. The Bcl-2/Bax ratio was increased in CNTF-treated eyes at 1 week postlaser exposure relative to controls. CONCLUSIONS: A single intravitreal injection of CNTF protein was shown to improve cone survival when administered immediately after laser exposure. Similar treatments with CNTF might also have a role in attenuating retinal laser damage sustained by combat personnel in the military setting.

Visual improvement after long-standing central serous macular detachment associated with an optic disc pit.

BACKGROUND: Approximately 50% of cases of congenital optic disc pits are associated with serous macular detachment. Long-standing serous detachments (over 1 year) with poor initial presenting acuity are usually associated with cystic degeneration of the macula and loss of pigment from the underlying retinal pigment epithelium, with resultant poor visual outcome. METHODS: A 43-year-old male presented with an optic disc pit and associated serous elevation of the macular region with cystic changes at the fovea. RESULTS: Over the following 2 years, the patient was aware of an improvement in vision, and acuity improved from 1/60 to 6/18 with resolution of subretinal fluid, as evidenced on optical coherence tomography. CONCLUSIONS: We report an unusual case of an optic disc pit associated with a long-standing serous macular detachment that resolved gradually over a 2.5-year period and, despite very poor presenting visual acuity, demonstrated eventual visual recovery.

Systemic tuberculosis presenting with acute transient myopia: a case report.

INTRODUCTION: Transient myopia has been reported to occur in a number of conditions, either ocular in origin or associated with an underlying systemic cause. We present a rare case of this abnormality occurring in the setting of systemic tuberculosis. CASE PRESENTATION: A 29-year-old Indian woman presented with sudden onset blurred distance vision and fever. Examination revealed visual acuity of counting fingers in both eyes improving to 6/9 with pinhole with N5 reading acuity. Anterior segment examination revealed narrow angles on gonioscopy. Posterior segments were normal. Systemic examination revealed a fluctuant mass in her left loin, aspiration of which yielded pus which was culture-positive for Mycobacterium tuberculosis. The Mantoux test elicited a strongly positive reaction. Chest X-ray and magnetic resonance imaging of the brain were unremarkable. Computed tomography scan and magnetic resonance imaging of the spine and abdomen revealed a large psoas abscess communicating with the loin mass. Two vertebrae were involved but not the spinal cord or canal. CONCLUSION: Transient myopia is a rare presenting feature of systemic tuberculosis. A postulated mechanism in this patient is that development of a uveal effusion related to systemic tuberculosis caused anterior rotation of the iris-lens diaphragm, thereby inducing narrowing of the angle and acute myopia.

Ocular features of Sjogren-Larsson syndrome.

Sjogren-Larson syndrome is a rare autosomal recessive neurocutaneous disorder characterized by a triad of intellectual disability, spastic diplegia or tetraplegia and congenital ichthyosis with associated ocular features, which include pigmentary changes in the retina. The usual presentation of crystalline maculopathy is from the age of 1-2 years onwards. Herein, a case of Sjogren-Larson syndrome in a 25-year-old woman is presented to highlight the ocular findings.