The period 2002-2021 saw an annual growth rate of 51.46% in listings of open access (OA) journals in the Directory of Open Access Journals (DOAJ), with a steeper rate of growth corresponding with the onset of COVID-19. The introduction of OA and hybrid models, which give authors traditional subscription and OA options, may have led to increased article processing charges (APCs). This study aimed to analyze the APCs for ophthalmology journal articles after the COVID pandemic and analyze changes in publication modality and cost. APC, frequency of publication, and impact factor (IF) were analyzed for 83 MEDLINE-indexed ophthalmology journals. Data were stratified based on publication modality (OA, hybrid, or traditional), and geodistribution, intermodality, and correlation between APC and IF were compared. Average APC for OA, hybrid, and traditional journals was $1,310.49, $3,550.71, and $7.18, respectively (P < 0.001). Univariate analysis demonstrated a statistically significant impact of hybrid mode (P < 0.001), traditional mode (P = 0.046), and IF >1 (P < 0.001). Multivariate analysis demonstrated a statistically significant effect of the modality of publication on journal APC. Intermodality analysis showed significantly higher APC for hybrid journals than OA or traditional journals, without statistically significant differences in frequency of publication or IF. Ophthalmology journals are experiencing a subject-wide transition from traditional publication to hybrid modality. Since the COVID pandemic, APCs across all publication modes have increased, and there has been a transition from the traditional publishing model to a more lucrative hybrid model.
To evaluate whether use of digital screen color temperature-modulating software is associated with changes in severity of symptoms associated with digital eye strain. In this prospective, interventional study, participants were recruited at ophthalmology clinics and via email. Participants completed a pre-intervention survey regarding demographics, digital screen use patterns, and severity of eight digital eye strain symptoms on a five-point Likert scale. Participants were randomized to use color temperature modulating software, reduce digital screen brightness, or change no digital screen properties on their personal computers for 1 month, after which time participants completed a post-intervention survey on digital eye strain symptom severity and adherence to intervention use. Changes in symptom severity scores were assessed using paired t tests. Pre-intervention and post-intervention questionnaires were completed by 47 participants. There was no significant difference in computer screen use times and baseline symptom severity across groups. Regarding usability, 19/19 participants (100%) in the color temperature modulation group and 16/17 (94%) in the brightness reduction group used the intervention half the time or more. In the brightness reduction group, there was a significant reduction in the eye fatigue severity score by 0.82 (P = 0.0007). There was no significant reduction in symptom severity in the color temperature modulation and control groups. In our study cohort, digital screen color temperature modulating software was associated with a high level of usability but was not associated with a reduction in digital eye strain symptom severity.
To evaluate the accuracy and appropriateness of responses provided by ChatGPT in identifying congenital glaucoma from a series of written and image-based prompts. A series of questions regarding common signs and symptoms of congenital glaucoma were developed and queried to ChatGPT-3.5 and ChatGPT-4.0, and a set of publicly available images of patients with congenital glaucoma were queried to the image search function of ChatGPT-4.0. Outputs were graded by three pediatric ophthalmologists with expertise in congenital glaucoma. Completeness of response, accuracy, potential for harm, and concern for glaucoma were assessed by each reviewer. A higher proportion of prompt responses from ChatGPT-4.0 were graded to be acceptable/appropriate than from ChatGPT-3.5 (22/33 vs 9/33 [P = 0.001]) among text-based queries. A higher proportion of ChatGPT-4.0 responses were felt to raise appropriate concern for congenital glaucoma (8/11 vs 2/11 [P = 0.03]) and a lower proportion of responses had incorrect or inappropriate information of major clinical significance (0/33 vs 6/33 [P = 0.02]) than ChatGPT-3.5 responses. There was no significant difference in the proportion of responses from ChatGPT-3.5 and ChatGPT-4.0 that were deemed to have potential likelihood of harm (P = 0.17). Among clinical images queried to ChatGPT-4.0, responses to two of three images were universally felt to be unacceptable with a major amount of incorrect or inappropriate clinical information and high/definitive likelihood of harm. Among readability indices, the SMOG Index score showed more difficult readability scores for ChatGPT-4.0 than for ChatGPT-3.5 (14.8 ± 1.2 vs 14.0 ± 1.4 [P = 0.009]). Despite superior performance from ChatGPT-4.0 compared with ChatGPT-3.5 in raising concern for congenital glaucoma and appropriateness of responses from text-based prompts, it performed poorly in recognizing clinical images of congenital glaucoma.
To identify mathematically the baseline physiological predictors of the intraocular pressure (IOP)-lowering effectiveness of topical carbonic anhydrase inhibitors (CAIs). Assuming a steady state of aqueous humor flow, mathematical equations describing IOP were formulated by incorporating related physiological variables. Global sensitivity analysis was then performed, in which all variables were varied simultaneously across their clinically reported ranges. This computational approach quantified the percentage reduction in IOP achieved by CAIs and identified the key determinants underlying variability in their effectiveness. A reduction in the solute influx via active transport by the ciliary epithelium, mediated by CAIs, was positively associated with the magnitude of IOP reduction. Among the physiological parameters in this model-trabecular outflow facility, uveoscleral outflow fraction, episcleral venous pressure, mean arterial pressure, plasma protein concentration, albumin/globulin ratio, and plasma osmolarity-a higher baseline trabecular outflow facility was the strongest predictor of reduced effectiveness of CAIs, in terms of the percentage of IOP reduction. Other baseline physiological parameters had no significant effect on the effectiveness of CAIs. Certain patient characteristics may be associated with compromised effectiveness of CAIs in terms of percentage IOP reduction. These characteristics, potentially associated with higher trabecular outflow facility, may include a lower baseline IOP or prior use of other trabecular outflow-enhancing medications before CAI initiation. Further studies are required to validate the clinical significance of these findings.
To assess the level and determinants of knowledge, attitude, and practice for eye and vision screening of preschool children among parents in Al-Qassim Province, Saudi Arabia. Parents of kindergartners were surveyed in 2023. Questions relating to knowledge (10), attitude (5), and practice (5) of vision screening were asked. Answers were graded on a five-point Likert scale, where 1 indicates strong disagreement and 5 indicates strong agreement; results were analyzed with regard to family demographics and child refractive status. A total of 214 parents were surveyed, representing 214 households. Level of knowledge was good or very good in 66.2%, attitude was positive in 41%, and practice was acceptable in 72.2% of respondents. The median knowledge score was 4.0 (IQR, 3.5-4.0), median attitude score was 3.0 (IQR, 3.0-4.0), and median practice score was 4.0 (IQR, 3.0-4.0). Education and family income were associated with practice scores (P <0.001 [Kruskal-Wallis H test]). Refractive error status of the father was significantly associated with a positive attitude toward eye and vision screening of preschool children (P = 0.015 [Kruskal-Wallis]). Main sources of knowledge included ophthalmologists (49.5%), social media (16.4%), Google search (10.7%), and optometrists (10.7%); preferred sources of knowledge were ophthalmologists (60.3%) and optometrists (22.4%). Social media, computers, primary health care center staff, and opticians were less desired sources of information. Parental knowledge on eye and vision screening for children in Al-Qassim Province has room to improve, and negative attitudes must be addressed. Practice for eye care in preschoolers was promising for adoption of universal preschool vision initiatives.
To evaluate the prevalence of musculoskeletal (MSK) complaints in ophthalmologists and to assess whether participation in an online Iyengar yoga video program improves the baseline pain scores and awareness of proper posture in the clinic and operating room. Ophthalmologists were recruited from online professional forums for this nonrandomized, prospective study. A pre-intervention survey, including demographics, office and procedure volumes, wellness activities, and baseline MSK pain scores, was completed. A fifteen-minute instructional video focusing on simple yoga poses for the neck, shoulder, and lower back created by one of the authors, who is both an ophthalmologist and a certified Iyengar yoga teacher, was provided to participants to complete three times weekly for a total of 4 weeks. A post-intervention survey collecting MSK pain scores and information about ergonomics and compliance was completed. Fifty ophthalmologists completed the pre-intervention survey, of whom 49 (98%) reported at least 1 episode of MSK discomfort in the preceding year. Of those, discomfort was cervical in 36 (72%), in the shoulder(s) in 15 (29%), thoracic spinal in 23 (46%), lumbar spinal in 23 (46%), and centered in the wrist, hand, or finger in 22 (44%). Of the 50 ophthalmologists, 22 submitted the post-intervention surveys. The post-intervention pain scores were decreased compared to baseline for cervical spine (P < 0.01), shoulder (P < 0.01), thoracic spine (P < 0.01), lumbar spine (P < 0.01) and wrist, hand, or finger (P < 0.01). 20 respondents (91%) reported improved awareness of their posture in the clinic and operating room, and 19 (86%) felt that this awareness would decrease their MSK symptoms. Among our small group of survey respondents, a fifteen-minute Iyengar yoga video program specifically designed for ophthalmologists reduced MSK pain and improving awareness of proper ergonomics for practicing ophthalmologists.
To determine whether stage of diabetic retinopathy (DR) is associated with increased intraocular pressure (IOP). The medical records of patients seen in the outpatient ophthalmology clinic at Sidney & Lois Eskenazi Community Hospital in Indianapolis, Indiana, from January 2022 to August 2023 were reviewed retrospectively. The highest IOP of those presenting without type 2 diabetes mellitus (T2DM), T2DM without DR, and varying severity of DR was recorded. Main outcome measures included median and average IOPs recorded from patients who presented without diabetes, diabetes without retinopathy, and mild, moderate, severe nonproliferative and proliferative diabetic retinopathy. Comparisons between groups generated P values, with ≤0.05 indicating statistical significance. A total of 389 patients (759 eyes) were included. Mean patient age was 58. Male patients accounted for 286 eyes (37.7%); Hispanic patients, for 270 eyes (35.6%); patients identifying as black, for 261 eyes (34.4%); white patients, for 195 eyes (25.7%); and Asian patients, for 33 eyes (4.3%). Overall, analysis showed IOP increased between eyes without T2DM compared with mild nonproliferative DR (P = 0.0373), mild DR compared to moderate nonproliferative DR (P = 0.0117), and moderate DR compared with severe nonproliferative DR (P = 0.0001). The IOP observed between severe nonproliferative DR to proliferative DR (P = 0.5351) was not statistically significant. In our study cohort, there was a positive correlation between elevated IOP and more advanced stage of DR, indicating that patients with diabetes but no findings of DR on retinal examination seem to be at greater risk of elevated IOP than those with mild-to-moderate DR. These results suggest that IOP in patients with T2DM, with or without DR, should be closely monitored over time to prevent future IOP-related complications.
To investigate the clinical outcomes of dehydrated versus cryopreserved amniotic membrane transplantation for corneal disease. Clinical data from 56 patients were analyzed retrospectively, including indications for treatment, number of amniotic membrane transplant (AMT) interventions, duration of therapy, use of adjunct medications, visual outcomes, and transplant tolerability. To analyze patient transplant tolerability, medical records were reviewed for relevant keywords at 1 week and 1 month after implantation. A total of 71 AMTs of 56 patients were included. At both follow-up intervals, patients who received a cryopreserved amniotic membrane transplant (CAMT) reported more side effects than did patients who received a dehydrated amniotic membrane transplant (DAMT). Those in the CAMT group also reported greater improvement in vision and a greater feeling of wellness at both intervals compared with patients in the DAMT group. Patients in the DAMT were less likely to require repeat treatments and achieved a higher percent resolution of the primary indication. In our study cohort, cryopreserved amniotic membranes appear to provide greater patient satisfaction, whereas dehydrated membranes appear to provide better clinical outcomes, with less need for repeat treatment. Because of limitations in stratifying disease severity, it cannot be concluded without a prospective cohort trial that the need for repeat treatment is not due to more severe disease in the cryopreserved group.
Sleep deprivation is highly prevalent among surgical trainees and associated with decreased clinical performance. The goal of this study was to demonstrate a method of analyzing incoming page timestamps to estimate the sleep patterns of trainees during a home-call shift. This was a retrospective study of all incoming pages to an Ophthalmology Service at a single tertiary care hospital from January 1, 2019, to December 31, 2019. The time and date of each incoming communication was recorded. The Kaplan-Meier estimator was used to determine the cumulative probability of receiving a page over the course of an at-home call shift. The mean number (± standard deviation) of incoming communications received during an overnight home-call shift (5 p.m.-8 a.m.) was 3.5 ± 2.5 (range, 0-15). The median time to first page was 1.4 hours (IQR, 0.4-4.0 hours). There was a significant difference between the number of pages received on weekdays compared to weekends (4.0 ± 2.5 vs 2.3 ± 2.1; P < 0.001). The cumulative probability of receiving a page during a shift was 91.5% (95% CI, 88.1%-95.6%). The probability of a 9-, 8-, 7-, or 6-hour interval without receiving an incoming page was 63.7%, 71.7%, 80.8%, and 87.6%, respectively. Analyzing timestamps may serve as a valuable tool for training programs to design home-call schedules that optimize the sleep patterns of trainees and ensure that fatigue does not negatively impact the quality of education and patient care.
Laboratory confirmation is crucial for diagnosis and management of herpes simplex virus (HSV) keratitis. However, the sensitivity of polymerase chain reaction (PCR) in keratitis is low (25%) compared with that of mucocutaneous disease (75%). We developed an educational intervention aimed at improving the diagnostic yield of PCR. The medical records of keratitis cases seen at the emergency department of a London tertiary ophthalmic referral hospital over two distinct periods, before and after an educational program on swab technique, were reviewed retrospectively. A total of 252 HSV cases were included. Increases in the laboratory-confirmed diagnosis of HSV-1 were observed, in both first presentations (11.1%-57.7%) and recurrent cases (20%-57.6%). The rate of positive HSV-1 PCR in eyes with an epithelial defect increased from 19% pre-intervention to 62% post intervention. Notably, 3% were positive for varicella zoster virus DNA, and there was a single case of Acanthamoeba keratitis. Our results suggest that, with proper swabbing technique, PCR may be more sensitive than previously reported.
Topical medications such as prostaglandin analogues, beta-blockers, alpha-2 agonists, and carbonic anhydrase inhibitors are routinely used for the management of ocular hypertension and glaucoma. Many are associated with adverse effects. We present the case of a 72-year-old woman who developed bilateral periocular hypopigmentation in the setting of long-term use of latanoprost, timolol, and brinzolamide/brimonidine. A well-known side effect of prostaglandin analogues is skin hyperpigmentation, but a few cases of a paradoxical hypopigmentation have been reported. Timolol and brinzolamide/brimonidine have not been associated with changes in skin pigmentation in the ophthalmic literature. Our case most likely represents a rare instance of paradoxical skin depigmentation associated with latanoprost use and adds to the limited literature on this clinical entity.
Anti-TNF-α therapies, though known for their anti-inflammatory effects, have been associated with paradoxical inflammatory reactions, of which anterior uveitis is the most common. We report a case of recurrent bilateral cicatricial conjunctivitis linked to systemic adalimumab (ADA) treatment in a 66-year-old man with rheumatoid arthritis (RA). The patient experienced worsening bilateral red eyes, blurry vision, and discomfort following each ADA injection. Examination revealed signs of cicatricial inflammation, which responded to corticosteroids but recurred after subsequent ADA doses. Despite these ocular events, adalimumab was continued due to its effective control of systemic RA, with close ophthalmic monitoring. This case suggests a potential direct association between ADA and cicatricial conjunctivitis, a previously undescribed complication. Aggressive topical corticosteroid treatment may allow the continuation of ADA without compromising systemic disease control.
To describe the Versatile Teaching Eye (VT Eye), a 3D-printed model eye designed to provide an affordable examination simulator, and to report the results of a pilot program introducing the VT Eye and an ophthalmic training curriculum at a teaching hospital in Ghana. TinkerCAD was used to design the VT Eye, which was printed with ABS plastic. The design features an adapter that permits use of a smartphone as a digital fundus. We developed a set of digital flashcards allowing for an interactive review of a range of retinal pathologies. An analog fundus was developed for practicing traditional slit lamp and indirect examinations as well as retinal laser practice. The model was used for a period of 2 weeks by ophthalmic trainees at Komfo Anokye Teaching Hospital, Kumasi, Ghana, to practice indirect ophthalmoscopy, slit lamp biomicroscopy, smartphone funduscopy, and retinal image drawing. Results were assessed at by means of a pre-/post-training survey of 6 residents. The VT Eye accommodates diverse fundus examination techniques. Its 3D-printed design ensures cost-effective, high-quality replication. When paired with a 20 D practice examination lens, the digital fundus provides a comprehensive, interactive training environment for <$30.00 (USD). This device allows for indirect examination practice without requiring an indirect headset, which may increase the amount of available practice for trainees early in their careers. In the Ghana pilot program, the model's use in indirect examination training sessions significantly boosted residents' confidence in various examination techniques. Comparing pre- and post-session ratings, average reported confidence levels rose by 30% for acquiring clear views of the posterior pole, 42% for visualizing the periphery, and 141% for capturing important pathology using personal smartphones combined with a 20 D lens (all P < 0.05). The VT Eye is readily reproducible and can be easily integrated into ophthalmic training curricula, even in regions with limited resources. It offers an effective and affordable training solution, underscoring its potential for global adoption and the benefits of incorporating innovative technologies in medical education.
Postoperative face-down positioning (FDP) for up to 2 weeks is believed to be necessary for successful closure of macular holes. FDP, however, can be disabling and uncomfortable and is a major burden for elderly patients. The aim of this study was to investigate how nonsupine posturing and macular hole size affect anatomical and functional success of macular hole closure. The medical records of patients with idiopathic macular holes who were treated surgically between 2016 and 2019 were reviewed retrospectively. Exclusion criteria included vitreomacular traction, previous retinal detachment, or chronic macular hole. A total of 115 eyes of 115 patients were included. Average age was 69.2 ± 8.2 years; 63 patients (55%) were female. Anatomical success was achieved in 108 patients (94%) with a single operation. In small holes (<400 μm), closure was seen in 98% of cases (95% CI, 94%-100%); in large holes (≥400 μm), 90% of cases (95% CI, 76%-94%). Visual acuity remained stable or improved in 108 patients (92%). Average preoperative best-corrected visual acuity was 1.02 ± 0.45, with an overall improvement of 5 lines postoperatively. Small holes and large holes improved, with an average of 3 versus 7 lines gained, respectively. In this study cohort, favorable anatomical and functional outcomes were achieved without postoperative FDP. These outcomes are comparable to the traditional FDP approach.
We present the case of a 65-year-old man with bilateral keratoconus and history of bilateral penetrating keratoplasty (PK) who developed gradual visual decline in the left eye due to cataract formation. Following successful left eye cataract surgery and monofocal, non-toric intraocular lens (IOL) in-the-bag implantation, the patient experienced persistently low uncorrected distance visual acuity (UDVA) due to high residual refractive error and intolerance to contact lenses. A supplementary toric IOL was placed in the ciliary sulcus, but subsequent rotational instability of the lens required repeated realignment. Despite two attempts at IOL repositioning, the rotational instability persisted, necessitating the replacement of the original Sulcoflex IOL with a toric, implantable Collamer lens. Following the implantation of the toric ICL, the patient achieved excellent UDVA with no adverse events over a 4-year follow-up period. This case highlights the potential rotational instability associated with toric piggyback IOLs in keratoconic, post-PK, pseudophakic eyes and the special considerations on choosing the type of piggyback lens in these eyes.
We report the case of a 62-year-old woman with a past medical history of leukemia, stem cell transplant, donor lymphocyte infusion, meningioma, and a prior episode of Sweet syndrome (SwS). She presented with progressive erythema, crusting, and edema in the preseptal and periorbital regions of her left eye. After initial treatment for presumed preseptal cellulitis with broad-spectrum antibiotics, the patient's symptoms worsened and became bilateral. The absence of systemic infectious signs and lack of clinical improvement raised suspicion for an alternative etiology. Given her history of SwS, a trial of systemic corticosteroids was initiated, resulting in a rapid clinical improvement. The diagnosis of cellulitis was subsequently rejected, and an ophthalmologic manifestation of SwS was suspected. This case highlights the importance of considering noninfectious inflammatory etiologies in patients with atypical or antibiotic-refractory periorbital symptoms-particularly in patients with a relevant medical history.
To evaluate the incidence, clinical course, and treatment outcomes of glaucoma surgery-related infections at a tertiary academic center over a 13-year time period. Patients presenting at Duke Eye Center between January 1, 2010, and November 11, 2023, who underwent glaucoma surgery, including trabeculectomy, glaucoma drainage device (GDD) placement, GDD revision surgery, trabeculectomy bleb revision surgery, minimally invasive glaucoma surgery (MIGS), Xen gel stent implantation, and cycloablative procedures, were identified using an electronic medical record clinical database search. Diagnosis of blebitis, bleb-associated endophthalmitis, and tube malposition or tube exposure were determined using International Classification of Disease (9th and 10th editions) codes. A total of 12,115 glaucoma surgeries (in 6,684 patients) were identified during the study period. GDD implantation comprised the majority of glaucoma surgeries (33%), followed by trabeculectomy (with and without Ex-PRESS mini glaucoma shunt) (25.7%), GDD revision (8.9%), trabeculectomy bleb revision (8.6%), and transscleral cyclophotocoagulation (5.9%). There were 488 MIGS with and without phacoemulsification (4%) and 76 Xen gel stent surgeries (0.6%). Endophthalmitis was diagnosed in 18 eyes (0.96%) that underwent trabeculectomy, 11 eyes that underwent GDD implantation (0.20%), and 1 eye that underwent Xen stent implantation. Blebitis was diagnosed in 7 eyes: 5 were related to trabeculectomy (0.27%), and 2 were related to GDD placement (0.05%). The incidence of GDD malposition or erosion was 10.2%. No cases of endophthalmitis were diagnosed in patients with MIGS. In our study cohort, infectious complications associated with trabeculectomy and GDD implant surgery were low; there were no cases of endophthalmitis associated with MIGS. The rate of GDD complications due to tube malposition or erosion was 10.2%.
To investigate the impact of phacoemulsification on posterior vitreous detachment formation in eyes with vitreomacular traction (VMT) with or without macular holes. A retrospective search of the medical records was conducted to identify patients with VMT who underwent cataract surgery at Mass Eye and Ear from 2016 to 2021. Patient demographics, ocular comorbidities, and clinical characteristics were extracted from the record, and optical coherence tomography images were assessed to confirm VMT and the presence of a lamellar or full-thickness macular hole (FMTH). Patients who underwent vitrectomy prior to cataract surgery were excluded. A total of 22 patients (15 women [68%]) met inclusion criteria (average age, 71 years). Fifteen eyes had an associated epiretinal membrane (63%), 7 had a lamellar hole (29%), and 8 had an FTMH (33%). Epiretinal membrane was present in 3 of 7 eyes with lamellar holes (43%) and 4 of 8 with a FTMH (50%). No eyes developed a complete posterior vitreous detachment following phacoemulsification. In 2 cases, there was progression of the macular hole stage following phacoemulsification. Ten eyes underwent subsequent pars plana vitrectomy (PPV). There was no statistically significant difference in visual acuity between eyes pre- and post-phacoemulsification; however, there was a statistically significant improvement in visual acuity pre- and post-PPV. Unlike other studies, in this case series of 24 eyes with VMT or VMT with holes, no cases of full posterior vitreous detachment occurred following unremarkable phacoemulsification or YAG capsulotomy.
We describe the clinical and molecular diagnostic overlap between posterior uveitis and inherited retinal diseases (IRDs) in 2 cases of PRPF31 retinitis pigmentosa (RP) presenting with features of posterior uveitis. Both patients with PRPF31 retinopathy had typical inflammatory clinical features of anterior chamber (AC) cells, vitritis, retinal vasculitis, and cystoid macular edema (CME), which was resistant to carbonic anhydrase inhibitors, systemic steroids, and antimetabolites but eventually responded to intraocular fluocinolone implant. This improvement with local corticosteroids in these RP cases suggests an inflammatory component on top of retinal pigment epithelial pump dysfunction. Aggressive systemic anti-inflammatory/immunosuppressive treatment may cause ocular (eg, cataract, glaucoma) and/or systemic (eg, teratogenic effects, infection risk) morbidity; benefits and risks should be discussed with patients. Bilateral symmetrical reduced vision, nyctalopia, and pigmentary retinopathy in young patients suggests IRD, but significant inflammatory signs may be present and should be addressed. Genetic testing may be helpful in clarifying mixed IRD/uveitis phenotypes, although results must be interpreted cautiously.
We present the case of a 56-year-old man with a recessive RYR1 mutation (10318G>A) who presented with bilateral ptosis and ophthalmoplegia. Despite a history of rhabdomyolysis and Graves' disease, he had not previously reported visual complaints. Following bilateral frontalis fixation surgery, his visual acuity improved. RYR1 mutations typically manifest as myopathies and susceptibility to malignant hyperthermia. To our knowledge, this is only the second reported case of a patient with the 10318G>A mutation presenting with blepharoptosis with ophthalmoplegia. Here, we outline the spectrum of RYR1 mutations as well as their ophthalmic and systemic effects.