Ocular features of NGLY1 deficiency from a prospective longitudinal cohort.

BACKGROUND: NGLY1 deficiency is a rare autosomal recessive disorder with core features of global developmental delay, liver enzyme abnormalities, movement disorder, polyneuropathy, and hypo- or alacrima. We characterized the full spectrum and evolution of the ocular phenotype in a prospective natural history of NGLY1 deficiency. METHODS: We collected ophthalmological data on 29 individuals with NGLY1 deficiency in a natural history study. Medical records were reviewed to confirm caregiver-reported symptoms. Of the 29, 15 participants appeared for at least one ophthalmological examination. RESULTS: Caregivers reported at least one ocular sign or symptom in 90% of participants (26/29), most commonly decreased tears, refractive error, and chronic infection. Daily eye medication, including artificial tears, ophthalmic ointment, and topical antibiotics were used by 62%. Ophthalmological examination confirmed refractive errors in 93% (14/15) and corneal abnormalities in 73% (11/15). CONCLUSIONS: Given nearly universal hypolacrima and additional prominent ocular findings in NGLY1 deficiency, a targeted ocular history and ophthalmologic examination may facilitate prompt diagnosis and early initiation of preventive eye care, preserving vision and overall ocular health.

Comparison of Ophthalmologist and Large Language Model Chatbot Responses to Online Patient Eye Care Questions.

Importance: Large language models (LLMs) like ChatGPT appear capable of performing a variety of tasks, including answering patient eye care questions, but have not yet been evaluated in direct comparison with ophthalmologists. It remains unclear whether LLM-generated advice is accurate, appropriate, and safe for eye patients. Objective: To evaluate the quality of ophthalmology advice generated by an LLM chatbot in comparison with ophthalmologist-written advice. Design, Setting, and Participants: This cross-sectional study used deidentified data from an online medical forum, in which patient questions received responses written by American Academy of Ophthalmology (AAO)-affiliated ophthalmologists. A masked panel of 8 board-certified ophthalmologists were asked to distinguish between answers generated by the ChatGPT chatbot and human answers. Posts were dated between 2007 and 2016; data were accessed January 2023 and analysis was performed between March and May 2023. Main Outcomes and Measures: Identification of chatbot and human answers on a 4-point scale (likely or definitely artificial intelligence [AI] vs likely or definitely human) and evaluation of responses for presence of incorrect information, alignment with perceived consensus in the medical community, likelihood to cause harm, and extent of harm. Results: A total of 200 pairs of user questions and answers by AAO-affiliated ophthalmologists were evaluated. The mean (SD) accuracy for distinguishing between AI and human responses was 61.3% (9.7%). Of 800 evaluations of chatbot-written answers, 168 answers (21.0%) were marked as human-written, while 517 of 800 human-written answers (64.6%) were marked as AI-written. Compared with human answers, chatbot answers were more frequently rated as probably or definitely written by AI (prevalence ratio [PR], 1.72; 95% CI, 1.52-1.93). The likelihood of chatbot answers containing incorrect or inappropriate material was comparable with human answers (PR, 0.92; 95% CI, 0.77-1.10), and did not differ from human answers in terms of likelihood of harm (PR, 0.84; 95% CI, 0.67-1.07) nor extent of harm (PR, 0.99; 95% CI, 0.80-1.22). Conclusions and Relevance: In this cross-sectional study of human-written and AI-generated responses to 200 eye care questions from an online advice forum, a chatbot appeared capable of responding to long user-written eye health posts and largely generated appropriate responses that did not differ significantly from ophthalmologist-written responses in terms of incorrect information, likelihood of harm, extent of harm, or deviation from ophthalmologist community standards. Additional research is needed to assess patient attitudes toward LLM-augmented ophthalmologists vs fully autonomous AI content generation, to evaluate clarity and acceptability of LLM-generated answers from the patient perspective, to test the performance of LLMs in a greater variety of clinical contexts, and to determine an optimal manner of utilizing LLMs that is ethical and minimizes harm.

Anterior segment ischemia following strabismus surgery in a young adult using gender-affirming estrogen hormone therapy.

Well-known risk factors for anterior segment ischemia (ASI) following strabismus surgery include ipsilateral surgery on three or more rectus muscles, older age, and vasculopathy. ASI is rarely reported in young patients following uneventful strabismus surgery on two ipsilateral rectus muscles. We report a 30-year-old transgender female on long-term estrogen therapy who underwent strabismus surgery involving recessions of both lateral rectus muscles, the right inferior rectus muscle, and the left superior rectus muscle. The left eye developed severe ASI with hypotony maculopathy that was resistant to topical medications, oral steroids, anterior chamber reformation, and intravitreal steroid injection. Following phacoemulsification with intraocular lens and capsular tension ring insertion 1 year later, intraocular pressure and hypotony maculopathy improved.

2021 U.S. Virgin Islands Zika health brigade: Providing recommended pediatric health screenings for children born to mothers with laboratory evidence of possible Zika virus infection during pregnancy.

BACKGROUND: The United States Virgin Islands (USVI) Department of Health (DOH) conducted a second Zika health brigade (ZHB) in 2021 to provide recommended Zika-related pediatric health screenings, including vision, hearing, neurologic, and developmental screenings, for children in the USVI. This was replicated after the success of the first ZHB in 2018, which provided recommended Zika-related pediatric health screenings to 88 infants and children exposed to Zika virus (ZIKV) during pregnancy. METHODS: Ten specialty pediatric care providers were recruited and traveled to the USVI to conduct the screenings. USVI DOH scheduled appointments for children included in CDC's U.S. Zika Pregnancy and Infant Registry (USZPIR). During the ZHB, participants were examined by pediatric ophthalmologists, pediatric audiologists, and pediatric neurologists. We report the percentage of participants who were referred for additional follow-up care or given follow-up recommendations in the 2021 ZHB and compare these referrals and recommendations to those given in the 2018 ZHB. RESULTS: Thirty-three children born to mothers with laboratory evidence of ZIKV infection during pregnancy completed screenings at the 2021 ZHB, of which 15 (45%) children were referred for additional follow-up care. Ophthalmological screenings resulted in the highest number of new referrals for a specialty provider among ZHB participants, with 6 (18%) children receiving referrals for that specialty. Speech therapy was the most common therapy referral, with 10 (30%) children referred, of which 9 (90%) were among those who attended the 2018 ZHB. CONCLUSIONS: Thirty-three children in a jurisdiction with reduced access to healthcare specialists received recommended Zika-related pediatric health screenings at the ZHB. New and continuing medical and developmental concerns were identified and appropriate referrals for follow-up care and services were provided. The ZHB model was successful in creating connections to health services not previously received by the participants.

Strabismus and Nystagmus in Patients With Pediatric Cataracts: Study Using Insurance Claims Data.

PURPOSE: To describe the characteristics and prevalence of strabismus and nystagmus in children diagnosed with cataracts using a national insurance claims database. DESIGN: Population-based retrospective cohort study. METHODS: Patients aged <13 years diagnosed with cataracts (traumatic cataracts excluded) and enrolled continuously in their health care program for ≥5 years after their first cataract diagnosis were identified in a retrospective review of 66 million charts in Optum's de-identified Clinformatics Data Mart Database between 2003 and 2015. Patients were categorized based on age of their first diagnosed cataract, and if cataract surgery was performed. Clinical and demographic factors associated with the occurrence of strabismus and nystagmus were evaluated. RESULTS: Of 1636 children diagnosed with cataract, 434 (26.5%) and 109 (6.7%) were diagnosed with strabismus and nystagmus, respectively. Both strabismus and nystagmus were more common in those who underwent cataract surgery (P < .001) and in patients diagnosed with cataract at ≤12 months of age (P < .001). Survival analysis demonstrated that strabismus and nystagmus may be diagnosed 8 years after the initial cataract diagnosis. Cox proportional hazard regression analyses revealed strabismus was associated with cataract surgery, nystagmus, and the diagnosis with cataract at ≤12 months and cataract surgery at >12 months. CONCLUSIONS: As strabismus and nystagmus occur more frequently in children diagnosed with cataracts necessitating cataract surgery, regular long-term follow-up is crucial for these children to monitor for the development of strabismus and nystagmus.

Axenfeld-Rieger syndrome: more than meets the eye.

BACKGROUND: Axenfeld-Rieger syndrome (ARS) is characterised by typical anterior segment anomalies, with or without systemic features. The discovery of causative genes identified ARS subtypes with distinct phenotypes, but our understanding is incomplete, complicated by the rarity of the condition. METHODS: Genetic and phenotypic characterisation of the largest reported ARS cohort through comprehensive genetic and clinical data analyses. RESULTS: 128 individuals with causative variants in PITX2 or FOXC1, including 81 new cases, were investigated. Ocular anomalies showed significant overlap but with broader variability and earlier onset of glaucoma for FOXC1-related ARS. Systemic anomalies were seen in all individuals with PITX2-related ARS and the majority of those with FOXC1-related ARS. PITX2-related ARS demonstrated typical umbilical anomalies and dental microdontia/hypodontia/oligodontia, along with a novel high rate of Meckel diverticulum. FOXC1-related ARS exhibited characteristic hearing loss and congenital heart defects as well as previously unrecognised phenotypes of dental enamel hypoplasia and/or crowding, a range of skeletal and joint anomalies, hypotonia/early delay and feeding disorders with structural oesophageal anomalies in some. Brain imaging revealed highly penetrant white matter hyperintensities, colpocephaly/ventriculomegaly and frequent arachnoid cysts. The expanded phenotype of FOXC1-related ARS identified here was found to fully overlap features of De Hauwere syndrome. The results were used to generate gene-specific management plans for the two types of ARS. CONCLUSION: Since clinical features of ARS vary significantly based on the affected gene, it is critical that families are provided with a gene-specific diagnosis, PITX2-related ARS or FOXC1-related ARS. De Hauwere syndrome is proposed to be a FOXC1opathy.

The Ophthalmology Mini-Elective Gives Vision to Preclinical Medical Students.

Introduction: Ophthalmology education during medical school is often very limited. To provide exposure to areas beyond its standard curriculum, the University of Pittsburgh School of Medicine offers mini-elective courses in various disciplines. We developed such a course to provide instruction in the basics of clinical ophthalmology to interested preclinical medical students. Methods: First- and second-year medical students electively enrolled in our course (mean number of students per year = 12), which included four sessions combining didactics and hands-on learning. Additionally, each student individually spent time with an ophthalmologist in the operating room. Our course was held each year from 2015 to 2019. Results: Participants completed pre- (n = 25) and postsurveys (n = 20), reflecting increased comfort with the ophthalmologic history and physical examination. In 2019, participants also completed pre- and posttests, demonstrating increased knowledge of ophthalmology. Discussion: The Ophthalmology Mini-Elective is a unique educational tool that introduces the principles of ophthalmology to preclinical medical students, addressing an area of medicine that is generally minimally included in the required curriculum.

Oculocerebrorenal syndrome of Lowe: Survey of ophthalmic presentations and management.

BACKGROUND: Lowe syndrome is a rare X-linked disease that is characterized by renal dysfunction, developmental delays, congenital cataracts and glaucoma. Mutations in the oculocerebral renal syndrome of Lowe (OCRL) gene are found in Lowe syndrome patients. Although loss of vision is a major concern for families and physicians who take care of Lowe syndrome children, definitive cause of visual loss is still unclear. Children usually present with bilateral dense cataracts at birth and glaucoma, which occurs in more than half of cases, either concurrently or following cataract surgery. MATERIALS AND METHODS: A retrospective review was conducted on the prevalence and characteristics of ocular findings among families of patients with Lowe syndrome with 137 uniquely affected individuals. RESULTS: Of 137 patients, all had bilateral congenital cataracts. Nystagmus was reported in 69.3% of cases, glaucoma in 54.7%, strabismus in 35.0%, and corneal scar in 18.2% of patients. Glaucoma was reported as the most common cause of blindness (46%) followed by corneal scars (41%). Glaucoma occurred in 54.7% of patients and affected both eyes in the majority of cases. Of these patients, 55% underwent surgery for glaucoma, while the remaining patients used medications to control their eye pressure. Timolol and latanoprost were the most commonly used medications. Although trabeculectomy and goniotomy are commonly used for pressure management, aqueous tube shunts had the best outcomes. CONCLUSION: Ocular manifestations in individuals with Lowe syndrome and carriers with OCRL mutation are reported which may help familiarize clinicians with the ocular manifestations and management of a rare and complex syndrome.

Massive Silicone-Induced Orbital Granuloma.

We report a large subconjunctival-orbital granuloma in a 51-year-old male presenting with a blind painful right eye and marked chemosis 15 months after undergoing vitrectomy and silicone oil retinal tamponade for retinal detachment with no reported intraoperative complications. Gross and histopathologic examination of the enucleated eye and episcleral tumor revealed a bosselated mass measuring 17 × 10 × 5 mm containing prominent vacuoles with surrounding epithelioid histiocytes and foreign body multinucleated giant cells. Such a large silicone-induced orbital granuloma following uncomplicated retinal surgery in a grossly intact eye has not been previously reported to the authors' knowledge. High intraocular pressure and emulsification of oil may facilitate silicone extravasation through scleral wounds after retinal surgery.

The shrinking eye: dimensional changes in the young child's eye after glaucoma drainage device implantation for refractory childhood glaucoma.

PURPOSE: To investigate the magnitude of reduction in the axial length (AL) and corneal diameter following glaucoma drainage device (GDD) placement and intraocular pressure (IOP) reduction in glaucoma patients <3 years of age at surgery. METHOD: The medical records of consecutive childhood glaucoma patients who underwent GDD implantation at a single practice between 2013 and 2018 and were <3 years of age at surgery were reviewed retrospectively. Demographics, glaucoma diagnoses, surgical details, and pre- and post-procedure measurements of AL, IOP, corneal diameter, central corneal thickness, presence of corneal edema, and cup:disk ratio were analyzed. RESULTS: A total of 16 eyes of 10 patients were included. Before GDD placement, mean AL was 23.49 ± 3.05 mm. Mean AL reduction after placement was 0.80 ± 0.85 mm (P = 0.001); median AL reduction, 0.93 mm (range, -3.05 to +0.59). Mean IOP reduction after GDD placement was 15.0 ± 6.0 mm Hg (P < 0.0001). IOP reduction and AL reduction were significantly related (P = 0.0013). Mean corneal diameter before GDD placement was 13.0 ± 1.6 mm; mean corneal diameter reduction after placement was 0.3 ± 0.3 mm (P = 0.012). Reduction of corneal diameter and of AL were significantly related (P = 0.03); corneal diameter and IOP were not (P = 0.40). Objective cupping reversal after GDD was noted in 50% of eyes with documented cup:disk ratio. CONCLUSIONS: In this study cohort, reduction in AL, corneal diameter, and cup:disk ratio was found to be correlated with reduced IOP after GDD placement. This result merits consideration during surgical planning for glaucoma patients <3 years of age.

Cyclodialysis Cleft Associated with Kahook Dual Blade Goniotomy.

AIM: The aim of this study is to report cyclodialysis cleft creation during Kahook dual blade (KDB) goniotomy. BACKGROUND: No known reports of cyclodialysis clefts have been published to the authors' knowledge after KDB goniotomy. CASE DESCRIPTION: A 55-year-old myopic male with primary open angle glaucoma in both eyes (OU) underwent routine cataract extraction and intraocular lens implant with KDB goniotomy in the right eye (OD). Preoperative intraocular pressures (IOP) OD were in the low 20 mm Hg range on timolol and bimatoprost. Postoperative IOP was 4 mm Hg, with a moderate depth anterior chamber. Gonioscopy was slit in all quadrants, with no structures visible, and no improvement on indentation. Mild macular choroidal folds were present OD. Ultrasound biomicroscopy (UBM) revealed an area of supraciliary fluid. Anterior chamber reformation with viscoelastic was performed and repeat gonioscopy revealed a cyclodialysis cleft from 2:00 to 3:00. Treatment with multiple sessions of argon laser photocoagulation successfully closed the cleft. CONCLUSION: KDB goniotomy may be complicated by cyclodialysis cleft formation and hypotony maculopathy. Visualization of a cleft on gonioscopy may require anterior chamber reformation. CLINICAL SIGNIFICANCE: With an increasing use of KDB for goniotomy, previously unreported complications may arise including cyclodialysis cleft and resultant hypotony maculopathy. Because cleft following KDB goniotomy is rare, suspicion may be low and diagnosis could be delayed in the setting of postoperative hypotony with closed angles. HOW TO CITE THIS ARTICLE: Shue A, Levine RM, et al. Cyclodialysis Cleft Associated with Kahook Dual Blade Goniotomy. J Curr Glaucoma Pract 2019;13(2):74-76.

Management of Descemet Membrane Detachment After Forceps Birth Injury.

PURPOSE: To describe the clinical signs of Descemet membrane (DM) detachment due to forceps-related birth injury and its subsequent management using optical coherence tomography. METHODS: Case report. RESULTS: A 3-day-old term infant presented with left eye corneal clouding and a definitive history of traumatic forceps-assisted delivery. Despite topical therapy, corneal clouding persisted, necessitating an examination under anesthesia using ultrasound and handheld optical coherence tomography. This revealed not only a tear in DM but also a large detachment. Injection of air alone failed to achieve apposition of DM to the posterior stroma. Apposition was achieved only after penetration of the overlying cornea with the needle of a 10-0 nylon suture and release of clear viscous fluid. The cornea cleared within the first week and continued in the months to follow. CONCLUSIONS: Prolonged corneal edema should alert the physician to probable DM detachment after forceps-related birth injury. Injecting air alone may not be sufficient to reattach the detached DM.

Repair of eyelid retraction due to a trabeculectomy bleb: case series and review of the literature.

Superior limbal trabeculectomy remains a common surgical treatment for glaucoma. Positional effects on the overlying upper eyelid-both ptosis and retraction-have been associated with the procedure. More than 1 mechanism may explain retraction; however, the eyelid may elevate mechanically due to the underlying raised superior bulbar conjunctiva.