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To determine whether there is laterality predominance in the horizontal dimensions of the periocular region.Retrospective study.Patients18 years of age who presented to a single academic ophthalmology department. Exclusion criteria included history of facial trauma or surgery, aesthetic injections, or other periocular-altering processes.Standardized digital photographs were obtained, and periocular structures were measured with Image J software. The midline was defined as the midpoint between the medial canthi, and the distances measured include midline to medial canthus, pupil centre, lateral canthus, and lateral zygoma. The palpebral fissure width was calculated as the distance between the lateral canthus and medial canthus. Data analysis was done for the full cohort and subsequently according to patient-identified gender.Periocular structures were measured in 83 patients (50 female and 33 male) with a mean age of 57.0 ± 16.2 years (range, 22-84 years). Right-sided predominance was found to be increasingly significant for the following variables: midline to pupil centre (31.34 mm vs 31.08 mm, p0.01), midline to lateral canthus (42.57 mm vs 42.23 mm, p0.005), and midline to lateral zygoma (65.70 mm vs 64.01 mm, p0.001).Photographic analysis of adults with no periocular-altering history demonstrates that there is a right-sided predominance in the horizontal dimension of the midline to the pupil, lateral canthus, and zygoma with increasing significance. Asymmetry of horizontal periocular measurements was more prevalent in males.

Purpose To investigate periorbital tissue enlargement in thyroid eye disease (TED) by 3-dimensional CT volumetric analysis. Methods Twenty-four adult subjects, 16 with TED and 8 controls, were studied. Three-dimensional volumetric calculations were performed on CT imaging of the orbit and face, focusing on the retroorbicularis oculi fat, suborbicularis oculi fat, facial muscles in periorbital region, orbital fat, extraocular muscles, and orbital volume. Analysis was performed using JMP version 12 software. Each measure was compared between the TED and control groups using Wilcoxon rank sum test. Correlations were investigated between periorbital and orbital tissue using the Spearman's correlation coefficient method. Results A statistically significant increase in volume was measured in TED patients in the superior and inferior periorbital fat tissue (p = 0.0044, p = 0.047), including the retroorbicularis oculi fat (p = 0.0011), suborbicularis oculi fat (p = 0.0093), and a decrease in facial muscle of superior periorbital region (p = 0.035). Strong positive correlation was noted between the muscles of superior and inferior periorbital region (rs = 0.65; p = 0.0006), and between the suborbicularis oculi fat and retroorbicularis oculi fat (rs = 0.50; p = 0.013). No correlation was observed between orbital and periorbital tissue, except between the orbital fat and the inferior periorbital fat tissue (p = 0.047). Conclusions Facial fat in the periorbital region is enlarged in TED, with the superior component correlating with orbital fat tissue expansion. These findings may assist in the clinical evaluation and management of disfigurement in TED patients.Superior and inferior periorbital fat is enlarged in thyroid eye disease with the superior periorbital fat expansion correlating with orbital fat expansion.

PURPOSE To investigate the relationship between sleep position preference and eyebrow and eyelid position and degree of upper eyelid dermatochalasis. METHODS A prospective study evaluating the impact of sleep position on facial asymmetry was conducted at an academic ophthalmology department. Eligibility criteria included the absence of periocular-altering trauma or surgery, contact lens use, or other periorbital disease processes. Patients reported their sleep position preference on a questionnaire. Standardized digital photographs of patients were obtained, and Image J software was used for measurements and converted into millimeters based on a standard corneal limbus-to-limbus ratio. Upper and lower eyelid position, upper eyelid dermatochalasis, and eyebrow position were assessed by the following image-derived measurements: marginal reflex distance 1 (iMRD1), marginal reflex distance 2 (iMRD2), tarsal platform show (iTPS), and central brow position (iBP). These results were compared with the patient reported sleep position preference to determine correlation. RESULTS Seventy-one patients were enrolled and reported the following sleep position preferences: 28 (right), 24 (left), 13 (both), and 6 (supine). Patients with a right- or left-sided preference demonstrated lower iMRD1 measurements for the preferred sleep side (p < 0.0004) with no other significant difference in periorbital measurements. A larger degree of upper eyelid height (iMRD1) asymmetry was observed among patients with a sleep side preference. CONCLUSION Patients with a predominant sleep side preference demonstrate a significant increase in ipsilateral upper eyelid asymmetry and an inferior upper eyelid position on the sleep side. There were no differences noted in lower eyelid position, central eyebrow position, or amount of upper eyelid dermatochalasis.

Purpose To report the development and clinical findings of a universal trans-punctal lacrimal microendoscope design. Methods In this study, we examined a unique and original "2-bend" (i.e., double-angle) rigid lacrimal microendoscope designed for universal applications for anatomical variations. The shape of endoscope was initially evaluated in 6 lacrimal systems of cadavers (4 Caucasian-cadaver lacrimal systems and 2 Asian-cadaver lacrimal systems). Second, a prospective clinical study involving 45 consecutive cases of nasolacrimal duct obstruction in Japanese patients was conducted to compare the facility and ease of use between the conventional single-bend type and our original 2-bend type trans-punctal lacrimal microendoscope for examination of the lacrimal drainage system. Results The findings in the cadaver study revealed that original 2-bend lacrimal microendoscope, which was designed double-angled 20°-30° at 10 and 30 mm from the tip of the scope, could more easily used to insert and image all lacrimal systems, while the conventional single-bent lacrimal microendoscope was difficult to insert in subset of patients with a prominent nasal process of the frontal bone. In the clinical trial, our findings showed that 26.7% of lacrimal systems could not be passed using the conventional single-bend design, while using the 2-bend design, all cases could successfully be investigated. Conclusions The original 2-bend-design microendoscope was found to be effective and valuable for universal use in examination and evaluation of the lacrimal passage.

Orbital actinomyces is a rare diagnosis with only a few cases reported in the literature. It can be difficult to diagnose due to its slow, indolent course, and nonspecific findings on imaging and clinical examination, and frequently it can masquerade as other pathologies such as neoplasm and inflammatory disease. The authors present a case of actinomyces masquerading as meningioma with findings of hyperostosis and a superior orbital roof interosseous tract on imaging.

Purpose To investigate the effect of visual supplementation and its mode of delivery in preoperative counseling of patients undergoing oculoplastic surgery. Methods A prospective randomized controlled trial of consecutive patients undergoing oculoplastic eyebrow and eyelid surgery was conducted. Patients were randomized to an "oral only" group receiving routine preoperative oral counseling or an "oral and visual" group receiving identical counseling visually supplemented with photographs demonstrating common postoperative physical findings. Patients in the "oral and visual" group were further randomized to receive education from the medical team in person versus prerecorded video. Patient emotions and expectations regarding postoperative healing were assessed preoperatively and at 1 week and 2 months postoperatively. Results 103 patients were included: 32 received in-person oral education, 33 received in-person oral education with photographs, and 38 received education with photographs via video. There were no significant differences in demographics or preoperative patient fear, anxiety, or preparedness. The "oral and visual" group expected more severe postsurgical discomfort and physical findings at postoperative day 1 and week 1. There were no significant differences between groups in surgery signup, cancellation, or triage call rates; patient expectations of postoperative months 2 and 4; or in anxiety, preparedness, or satisfaction. Conclusions Visual supplementation in preoperative counseling increases patient expectations of postoperative physical findings without escalating fear or anxiety, and has no significant impact on patient emotions, triage call rates, and satisfaction throughout their surgical experience. Preoperative education via video is perceived by patients to be equivalent to counseling in person by the surgeon.

Purpose: To describe a rare occurrence of acute vision loss and diffuse alveolar hemorrhage following a treatment of injectable gluteal cosmetic filler. Patient and methods: A 20-year-old female underwent a cosmetic injection of unknown components for gluteal augmentation. Within hours she developed progressive shortness of breath secondary to diffuse alveolar hemorrhage. She presented to ophthalmology 6 weeks later with a history of bilateral decreased vision. Clinical examination revealed cotton wool spots and retinal hemorrhages. Fluorescein angiography demonstrated macular vascular pruning and an enlarged foveal avascular zone. Results: The patient was observed and vision did not improve after 8 months of follow-up. Conclusion: These findings were attributed to a Purtscher-like retinopathy secondary to systemic inflammation induced by the filler and/or direct microembolization of the injected material or fat. To the best of the authors’ knowledge, this is the first documented case of diffuse alveolar hemorrhage and ischemic bilateral vision loss in a patient undergoing gluteal augmentation with dermal filler.

A 65-year-old woman presented with a 6-week history of redness, eyelid swelling, and discharge in the right eye. Slit lamp examination revealed right medial canthal erythema with cicatricial lower lid ectropion, retraction, and inferior punctal obliteration. The patient was previously diagnosed with a medial canthal basal cell carcinoma 1.5 years ago, but opted for self-treatment with black salve, a commonly used naturopathic "cure" for skin cancer. Each application resulted in increasingly severe periorbital inflammation with eventual eschar formation. Over time, this led to cicatricial band formation over the medial canthus. After biopsy confirmation of residual basal cell carcinoma within the cicatricial tissues, the patient underwent Mohs surgery followed by multistaged reconstruction. Herein, we report a case of patient whose use of an unproven naturopathic "cure" led to persistent periorbital inflammation, persistence of malignancy, and significant tissue destruction.

Purpose: To evaluate outcomes of primary eyelid and canalicular laceration repair using a self-retaining bicanalicular hydrophilic nasolacrimal stent.Methods: This study is a retrospective review o...

Purpose To emphasize the importance of early detection and radiologic evaluation of retained organic foreign bodies (FBs) in orbital or orbitocranial penetrating injuries by pencil. Design Retrospective case series. Methods A retrospective chart review of patients who had penetrating orbital or orbitocranial trauma at 2 tertiary hospitals was conducted. Patients whose mechanism of injury was penetrating trauma by pencil were included. The patients' demographics, time between initial trauma and detection of foreign body, radiologic images, and resulting sequelae were reviewed. Results Four patients were included in this study. All patients were male; 3 were less than 2 years of age and 1 was 34 years old. Accidents were witnessed in 2 cases, and initial detections of FBs were delayed in 3 cases, from 2 days to 7 weeks. Three cases involved the right orbit. Computed tomography (CT) imaging of the head demonstrated penetration of the orbital walls in 3 cases. Three-dimensional CT scans were used to differentiate the penetrating graphite pencil fragments from the orbital wall, and catheter angiography was used in 1 case of suspected orbital apex penetration. Vision was lost in 1 patient while other severe neurologic deficits were fully recovered after removal of FB. Conclusions Penetrating injury by pencils to the periorbital structures and delayed detection of retained pencil fragments can result in threat to life and vision. Radiologic examinations are essential to the detection of these retained FBs. Prompt detection and removal of the FBs within 48 hours and treatment with antibiotics can save vision and life.

Background or Purpose: The evaluation of retinal hemorrhages in the setting of suspected abusive head trauma (AHT) has important medical, social, and legal implications. Challenges include late presentation after retinal hemorrhages have resolved and differentiating AHT-related retinal changes from mimicking pathologies. To date, angiographic evidence of peripheral retinal injury in AHT has been reported in small series, but further study is needed to determine the prevalence and long-term sequelae of these findings. The purpose of this study was to describe fluorescein angiography (FA) findings in pediatric patients with a history of definite AHT and demonstrate the potential utility of FA in evaluating cases of suspected abuse with late presentation. Methods: Retrospective case series of 10 eyes in 5 pediatric patients with a history of definite AHT. RetCam fundus photography images and digital FA were performed. Results: Peripheral retinal nonperfusion affected 10 of 10 eyes in patients with a history of definite AHT. These changes persisted after acute retinal hemorrhages had resolved. Conclusions: “Retinal surveys” using FA provide angiographic evidence of peripheral retinal nonperfusion that may be a sign of AHT. This series adds to the growing body of cases reporting similar AHT-related findings and additionally demonstrates the longevity of these pathologic changes after trauma, which has not been previously described. Fluorescein angiography may offer a distinct advantage in evaluating cases of suspected abuse with late presentation to medical care when pathognomonic retinal hemorrhages may no longer be present. Further study is needed to determine the prevalence and long-term sequelae of these findings.

The loss of an eye, whether due to trauma, operation, infection, or any number of other pathologies, has always been associated with orbital volume deficits and a loss of normal cosmesis. Given that the eye is such a vital component of human social connection, efforts to restore the external appearance of the socket after eye removal led to the advent of the orbital implant, which serves to replace removed ocular contents. Historically, a wide variety of orbital implant materials and techniques have come in and out of favor in attempts to restore volume, motility, and ocular health. From the most rudimentary glass spheres to highly advanced engineered biomaterials, this chapter provides a brief overview of the history of ocular prosthetics in the hopes of highlighting the advances that have been made over the last 500 years. It is important to understand the metamorphosis of ocular implants and the unique innovations that have brought us the implants that we use today, as this will allow us to continue to strive for improvement and progress in our orbital implants.

An 11-year-old female presented with orbital cellulitis, bacterial sinusitis, enlarged left superior ophthalmic vein, dural venous sinuses, and internal jugular vein. The patient underwent endoscopic sinus surgery and was started on intravenous antibiotics and anticoagulation with limited improvement in orbital signs and symptoms. A magnetic resonance imaging/magnetic resonance venography of the orbits and brain revealed a dilated left superior ophthalmic vein with absence of flow but no clearly discernible orbital abscess. Intravenous corticosteroids resulted in dramatic improvement of pain, hypoglobus, proptosis, and extraocular motility, all of which rapidly recurred on discontinuation. Serial imaging revealed progression of what eventually manifested as a well-defined, rim-enhancing peri-superior ophthalmic vein abscess, which was incised and drained with prompt resolution of orbital cellulitis and complete visual recovery.

Dog bites result in a diverse range of injuries and complications in the periocular region, particularly in school aged children. It is therefore incumbent on the oculoplastic surgeon to be well versed in both acute and long-term management. The intent of this review is to provide a systematic evaluation of the epidemiology, principles of dog bite wound care, and specific considerations related to common patterns of ophthalmic injury. Review of clinical literature from 1976 to 2014. The majority of periocular injuries result from seemingly benign interactions between young children and familiar dogs. Aggressive saline lavage combined with selective debridement of devitalized tissue is essential. High-risk wounds and vulnerable patient groups may benefit from preventive antibiotic coverage as well as appropriate rabies and tetanus prophylaxis. While the nuances of surgical repair are variable given the heterogeneity of presentation, systematic examination and an algorithm-driven approach underlie the optimal management of these complex injuries.

Background Wide surgical access to the orbital floor and medial wall is often impaired by the course of the inferior oblique muscle. There is no current consensus on the optimal surgical approach for exposure, and techniques involving inferior oblique division are generally shunned for concern of possible complications. Objective To determine the safety and outcomes of inferior oblique division and reattachment for surgical access to the orbital floor and medial wall during orbital fracture repair. Methods Retrospective, single-center, review of 85 patients that underwent orbital floor, medial wall or combined fracture repair with division and reattachment of the inferior oblique near its origin. Measured characteristics include surgical approach, type of surgery, time to surgery, pre- and post-operative diplopia, enophthalmos, and complications. Results Forty-five patients (52.9%) with no pre-operative diplopia were followed up for a mean of six months. Of these, six patients (13.3%) developed post-operative binocular diplopia that resolved in all patients on an average of three months (range 2–6 months). No patients developed torsional diplopia. One patient developed a hematoma two years later attributable to capsular contraction around the implant. Conclusion Division and reattachment of the inferior oblique muscle is a safe method that allows for panoramic surgical visualization of the inferior and medial orbit.

Objective: This study utilized Next Generation Sequencing (NGS) to identify differentially expressed transcripts in orbital adipose tissue from patients with active Thyroid Eye Disease (TED) versus healthy controls. Method: This prospective, case-control study enrolled three patients with severe, active thyroid eye disease undergoing orbital decompression, and three healthy controls undergoing routine eyelid surgery with removal of orbital fat. RNA Sequencing (RNA-Seq) was performed on freshly obtained orbital adipose tissue from study patients to analyze the transcriptome. Bioinformatics analysis was performed to determine pathways and processes enriched for the differential expression profile. Quantitative Reverse Transcriptase-Polymerase Chain Reaction (qRT-PCR) was performed to validate the differential expression of selected genes identified by RNA-Seq. Results: RNA-Seq identified 328 differentially expressed genes associated with active thyroid eye disease, many of which were responsible for mediating inflammation, cytokine signaling, adipogenesis, IGF-1 signaling, and glycosaminoglycan binding. The IL-5 and chemokine signaling pathways were highly enriched, and very-low-density-lipoprotein receptor activity and statin medications were implicated as having a potential role in TED. Conclusion: This study is the first to use RNA-Seq technology to elucidate differential gene expression associated with active, severe TED. This study suggests a transcriptional basis for the role of statins in modulating differentially expressed genes that mediate the pathogenesis of thyroid eye disease. Furthermore, the identification of genes with altered levels of expression in active, severe TED may inform the molecular pathways central to this clinical phenotype and guide the development of novel therapeutic agents.

Changes in behavioral patterns can be the only indication of the presence of pain in nonverbal patients. Phthisis bulbi results in shrinking, disorganization, and sometimes severe inflammation of the ocular globe and can occur after eye injury or multiple eye surgeries. Chronic tearing, frequent eye rubbing, and self-injurious behavior focused around the eye and periocular region may indicate ocular discomfort in nonverbal patients. In eyes that become painful and refractory to medical treatment, ocular evisceration or enucleation can provide immediate pain relief. An ocular prosthesis provides excellent cosmetic results to restore normal facial appearance after surgery. Keywords: Blind painful eye, Phthisis bulbi, Enucleation, Evisceration, Self-injurious behavior, Nonverbal

An 89-year-old woman presented with a canalicular-involving laceration/avulsion of the right lower eyelid after a fall. The inferior canaliculus was severed deep within the wound, and the ends were difficult to identify. Novel pigtail cannulas, designed by the authors, were used for lacrimal system intubation and suture passage. Satisfactory cosmetic and functional results were achieved. These cannulas facilitate repair by integrating multiple functionalities in a single instrument. Once a cannula has been inserted and rotated, the location of fluid egress provides important clues. If injected saline appears in the nasopharynx but not in the wound, absence of a common canaliculus can be suspected. Injection of viscoelastic, air or fluorescein-impregnated saline also permits easier identification of the cut end of the canaliculus within the wound and facilitates appropriate rotation of the pigtail.

Enophthalmos in the setting of breast cancer metastatic to the orbit results primarily from the disease pathogenesis, or secondary to treatment effects. Orbital volume restoration and fat regeneration following endocrine treatment monotherapy has not been previously reported. A 76- year-old previously healthy female presented with progressive right enophthalmos secondary to metastatic lobular breast carcinoma. Treatment with an aromatase inhibitor (letrozole) resulted in tumor regression and orbital fat restoration with a corresponding improvement in orbital volume and enophthalmos on clinical exam. The patient is alive on continued letrozole with no progressive disease ten years after diagnosis. This case illustrates the resilience of orbital soft tissues and ability of orbital fat to regenerate in face of breast cancer metastasis. We hypothesize that endocrine monotherapy, and avoidance of radiation therapy, allowed for differentiation of remaining orbital stem cells, and facilitated the fat regenerative process.

Facial trauma often involves injuries to the eyelid and periorbital region. Management of these injuries can be challenging due to the involvement of multiple complex anatomic structures that are in close proximity. Restoration of normal anatomic relationships of the eyelids and periocular structures is essential for optimum functional and aesthetic outcome after trauma. This review provides an overview of the current literature involving soft tissue trauma of the eyelid and periorbital tissue, and highlights key steps in patient evaluation and management with various types of injuries.

PURPOSE Cicatricial ectropion and periocular scarring can cause significant functional and cosmetic deficits. Surgical treatments can be associated with recicatrization, donor site morbidity, and textural and pigmentary abnormalities. This case series reports on efficacy and safety of a novel nonsurgical approach to treating cicatricial ectropion using ablative fractional laser resurfacing and laser-assisted delivery of 5-fluorouracil. METHODS A retrospective review was conducted of all patients at a single institution who received ≥3 rounds of ablative fractional laser resurfacing with laser-assisted delivery of 5-fluorouracil. Six patients with cicatricial ectropion and periocular scarring secondary to reconstructive surgery, traumatic lacerations, and facial burns were included. Aesthetic and functional improvement were evaluated via fluorescein staining, tear breakup time, external photography, questionnaires gauging dry eye symptoms, and scar appearance. RESULTS All patients showed functional improvement based on fluorescein staining (mean improvement 6.0 ± 1.4; p = 0.0007) and other indicators of dry eye. All 4 patients with lagophthalmos improved and 2 showed complete resolution. All patients demonstrated significant cosmetic improvement based on a validated scar assessment questionnaire (mean improvement 37.5 ± 18.9; p = 0.004), and 5 of 6 patients reported improved satisfaction with scar appearance (mean improvement 19.3 ± 12.8; p = 0.014). There were no adverse effects reported. CONCLUSIONS Ablative fractional laser resurfacing with laser-assisted delivery of 5-fluorouracil appears to be a safe and effective modality for treating the functional and aesthetic abnormalities associated with periocular scarring, yielding results that are difficult to attain through surgery alone. Optimal management of cicatricial ectropion and periocular scarring often requires multimodality treatment, and ablative fractional laser resurfacing with laser-assisted delivery of 5-fluorouracil may be considered as part of a comprehensive approach to managing periocular scars.

Background Penetrating injuries involving foreign objects that transgress the entirety of the human skull present challenges in the management of vascular injuries, infectious risk, cerebrospinal fluid leak, and cosmetic repair. Ultimately, effective management of these injuries requires a multidisciplinary team and judicious surgical planning. Case Description Here we present the treatment of a patient who experienced a penetrating injury from a railroad spike, with entry and exit points involving the left and right anterior aspects of the temporal fossa, respectively. Conclusions The rationale for management decisions is reviewed in the context of the published literature.

Upper eyelid blepharoplasty is one of the most common procedures performed worldwide for both functional and cosmetic indications. There is a high rate of patient satisfaction; however, in this era of social media, patient expectations are higher than ever. Today's digitally savvy patients expect perfect outcomes with no complications and rapid recovery. To achieve optimal results, a careful preoperative evaluation and sound surgical technique is essential for minimizing complications. Here the authors review their approach to the management of the blepharoplasty patient.

Fabric monofilament polyethylene mesh is an implant primarily used in the repair of abdominal and chest walls. However, there have been isolated reports of using this implant in facial reconstruction. The authors describe a patient who underwent prior orbital floor fracture repair with polyethylene mesh and subsequently developed a recurrent orbital abscess 12 years later. Despite incorporation of the fabric monofilament polyethylene mesh within healed bone, an orbitocutaneous fistula developed after a secondary injury, causing hyperglobus and cicatricial lower eyelid retraction.

Advanced nasopharyngeal carcinoma may present to oculoplastic surgeons and ophthalmologists as epiphora or medial canthus swelling. In contrast, the authors describe an uncommon initial presentation of alacrima in a 30-year-old female with nasopharyngeal carcinoma without invasion of the nasolacrimal sac, duct, or lacrimal gland. The diagnosis was delayed due an initial misdiagnosis of dry eye. Nasopharyngeal carcinoma should be included in the differential for diminished tear production, especially if it presents asymmetrically.

Accurate prediction of the pathogenic effects of specific genotypes is important for the design and execution of clinical trials as well as for meaningful counseling of individual patients. However, for many autosomal recessive diseases, it can be difficult to deduce the relative pathogenic contribution of individual alleles because relatively few affected individuals share the same two disease-causing variations. In this study, we used multiple regression analysis to estimate the pathogenicity of specific alleles of ABCA4 in patients with retinal phenotypes ranging from Stargardt disease to retinitis pigmentosa. This analysis revealed quantitative allelic effects on two aspects of the visual phenotype, visual acuity (P < 10(-3)) and visual field (P < 10(-7)). Discordance between visual acuity and visual field in individual patients suggests the existence of at least two non-ABCA4 modifying factors. The findings of this study will facilitate the discovery of factors that modify ABCA4 disease and will also aid in the optimal selection of subjects for clinical trials of new therapies.

Advancements in technology and medicine have led to a greater life expectancy and a corresponding increased interest in the mechanisms and prevention of aging. Because of its central role in human perception of age and emotion, the aging face generates a high demand for understanding the etiology of senescence-related changes. There are effective nonsurgical and surgical methods available for those seeking functional or cosmetic facial rejuvenation.

The authors describe a 34-month-old boy who presented with a bilateral and asymmetric exudative retinopathy with similarities to Coats’ disease. The patient’s medical history was remarkable for hypotonia, developmental delay, seizures, and intracranial calcifications. Genetic testing revealed a diagnosis of Coats’ plus. This rare genetic disease should be in the differential diagnosis in patients who present with a bilateral and asymmetric Coats’-like retinopathy in the presence of other systemic abnormalities. [ Ophthalmic Surg Lasers Imaging Retina . 2014;45:462–456.]

Objective To characterize the seroreactivity against retinal proteins in patients with posterior uveitis, retinal disease of noninflammatory origin, and healthy controls. Methods Patients with posterior uveitis (n = 47), molecularly confirmed photoreceptor degenerations (n = 11), and healthy controls (n = 33) received dilated fundus examinations at the University of Iowa. Aqueous-soluble and detergent-soluble fractions of human retina were separated by gel electrophoresis and transferred to polyvinylidene fluoride membranes. Membranes were probed with patient serum samples to detect IgG, IgA, and IgM human antibodies that react with retinal antigens. The number of bands detected by Western blot was counted, and their molecular weights were determined. Results Antibodies recognizing retinal proteins were found in healthy controls, in patients with posterior uveitis, and in patients with molecularly confirmed heritable retinal degenerations. In healthy controls, 42% of individuals had circulating autoantibodies that recognized retinal proteins. Healthy controls had a low odds ratio of serum reactivity to soluble antigens (0.7; 95% confidence interval [CI], 0.4-1.2). Patients with inflammatory retinal diseases and inherited retinal diseases had 4.89 (95% CI, 2.25-10.64; P P = .02) times more activity against soluble retinal antigens compared with controls. Conclusions Healthy control patients exhibited a significantly higher level of background autoantibody activity against retinal proteins than previously reported. Antibody activity in healthy controls was primarily directed against membrane-bound retinal proteins, whereas in patients with pathologic retinal conditions, antibodies targeting nonmembrane-bound retinal proteins predominate.

Objective To describe the clinical, molecular, and serologic findings of a case in which autoimmune retinopathy and early-onset heritable retinal degeneration were both considered in the differential diagnosis. Methods A 3-year-old girl had clinical findings suggestive of a childhood-onset retinal degeneration. Samples of DNA and serum were collected. The coding regions of 11 genes associated with Leber congenital amaurosis were sequenced. The patient's serum reactivity to soluble and insoluble fractions of human retinal protein was compared with that of healthy control subjects (n = 32), patients with inflammatory eye disease (n = 80), and patients with molecularly confirmed retinal degenerations (n = 11). Two-dimensional gel electrophoresis and mass spectrometry were used to identify a protein that corresponded to a reactive band on Western blot. Results No plausible disease-causing mutations were identified in any of the retinal disease genes tested. However, the patient's serum showed reactivity to a single retinal antigen of approximately 47 kDa. Two-dimensional gel electrophoresis and mass spectrometry revealed the major reactive species to be neuron-specific enolase (NSE). Autoantibodies targeting NSE were not observed in any healthy control subjects or patients with inflammatory eye disease. However, anti-NSE activity was found in 1 child with molecularly confirmed Leber congenital amaurosis. Conclusion This patient's clinical and laboratory findings coupled with the recently discovered role of anti-NSE antibodies in canine autoimmune retinopathy suggest that autoantibodies targeting NSE are involved in the pathogenesis of her disease. Clinical Relevance Infection or inflammation within the retina early in life may lead to an autoimmune phenocopy of early-onset inherited retinal degeneration.

Purpose To test patients from southern India for the presence of mutations that most commonly cause Leber congenital amaurosis (LCA) in northern America. Methods A review of the literature identified 177 unique LCA causing mutations in eight different genes: aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), crumbs homolog 1 (CRB1), cone-rod homeobox (CRX), guanylate cyclase 2D (GUCY2D), nephronophthisis 6 (NPHP6), retinol dehydrogenase 12 (RDH12), retinal pigment epithelium-specific protein 65 kDa (RPE65), and retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1). Allele-specific ligation assay and bidirectional sequencing were used to test 38 unrelated LCA patients from southern India for 104 of these mutations, which contribute to more than 30% of the LCA cases in a northern American population. Results Only one participant was found to harbor one of the 104 mutations in the allele-specific assay (homozygous RPE65 Tyr368His). A mutation that was not part of the assay (homozygous RPE65 Tyr143Asp) was incidentally detected in a second patient when an equivocal signal from one allele on the assay was followed up with automated DNA sequencing. Conclusions Mutations that contribute to 30% of the LCA cases in northern America were detected in only 2.6% of LCA cases in our cohort from southern India. There were no instances of IVS26 c.2991+1655 A>G in NPHP6, the most commonly detected mutation in LCA. These data suggest that LCA in India is caused primarily by a different set of mutations in the same genes associated with disease in northern America, or by mutations in other genes that have not yet been discovered. Therefore, mutation-specific assays developed for European and northern American cohorts may not be suited for testing LCA patients from India or other ethnically distinct populations.

Ablative laser assisted topical delivery of antifibrotics in the management of cicatricial ectropion