Erdafitinib-associated retinal alterations and rapid onset bilateral white cataracts.

Purpose: This report aims to highlight the wide spectrum of ophthalmic adverse events associated with erdafitinib, a fibroblast growth factor inhibitor that blocks activation of the mitogen-activated protein kinase kinase (MAPK/MEK) cascade. The purpose of this report is to describe a case of erdafitinib-associated bilateral outer retinal alterations in the MEK-associated retinopathy spectrum and rapid onset bilateral total cataracts following a 20-month course of erdafitinib therapy. Observations: A 69 year old male with metastatic bladder cancer presented 47 days following treatment initiation with daily erdafitinib (8-mg) with mild new subretinal fluid and minimal associated subretinal debris in the left eye and accentuation/thickening of the interdigitation zone in the right eye. Over the course of treatment, improvements were noted, particularly with erdafitinib dose reduction. At 20 months, both eyes developed rapidly progressive mature cataracts with significant visual changes, necessitating bilateral cataract extraction. Conclusions and importance: The potential stability of moderate outer retinal changes (i.e., ellipsoid zone/interdigitation zone, subretinal fluid) while continuing erdafitinib therapy is highlighted in this report. In addition, the importance of continued ophthalmic surveillance is emphasized given the possible association of anterior segment adverse events with long-term erdafitinib use.

AOP report: Development of an adverse outcome pathway for deposition of energy leading to cataracts.

Cataracts are one of the leading causes of blindness, with an estimated 95 million people affected worldwide. A hallmark of cataract development is lens opacification, typically associated not only with aging but also radiation exposure as encountered by interventional radiologists and astronauts during the long-term space mission. To better understand radiation-induced cataracts, the adverse outcome pathway (AOP) framework was used to structure and evaluate knowledge across biological levels of organization (e.g., macromolecular, cell, tissue, organ, organism and population). AOPs identify a sequence of key events (KEs) causally connected by key event relationships (KERs) beginning with a molecular initiating event to an adverse outcome (AO) of relevance to regulatory decision-making. To construct the cataract AO and retrieve evidence to support it, a scoping review methodology was used to filter, screen, and review studies based on the modified Bradford Hill criteria. Eight KEs were identified that were moderately supported by empirical evidence (e.g., dose-, time-, incidence-concordance) across the adjacent (directly linked) relationships using well-established endpoints. Over half of the evidence to justify the KER linkages was derived from the evidence stream of biological plausibility. Early KEs of oxidative stress and protein modifications had strong linkages to downstream KEs and could be the focus of countermeasure development. Several identified knowledge gaps and inconsistencies related to the quantitative understanding of KERs which could be the basis of future research, most notably directed to experiments in the range of low or moderate doses and dose-rates, relevant to radiation workers and other occupational exposures.

Implication of Corneal Refractive Surgery in Duchenne Muscular Dystrophy.

Duchenne muscular dystrophy (DMD) is an X-linked disorder due to a dystrophin mutation and is the leading cause of muscular dystrophy. DMD presents with characteristic systemic effects, including severe muscular atrophy, cardiomyopathy, and ocular manifestations. Performing corneal refractive surgeries in patients with DMD raises concerns regarding patient positioning, risk of cataracts, and other comorbid conditions. Published reports of photorefractive keratectomy, laser-assisted in situ keratomileuses, and small incision lenticule extraction are lacking in this population. Here, we discuss a patient being evaluated for a corneal refractive surgery. This article also discusses the current understanding of DMD, known ocular manifestations, and factors to consider when evaluating a patient for potential corrective vision laser surgery.

Increased molar ratio of free fatty acids to albumin in blood as cause and early biomarker for the development of cataracts and Alzheimer's disease.

Cataracts and Alzheimer's disease (AD) are closely linked and are associated with aging and with systemic diseases that increase the molar ratio of free fatty acids to albumin (mFAR) in the blood. From the results of our earlier studies on the development of senile cataracts and from results recently published in the literature on the pathogenesis of Alzheimer's disease, we suggest that there is a common lipotoxic cascade for both diseases, explaining the strong connection between aging, an elevated mFAR in the blood, cataract formation, and AD. Long-chain free fatty acids (FFA) are transported in the blood as FFA/albumin complexes. In young people, vascular albumin barriers in the eyes and brain, very similar in their structure and effect, reduce the FFA/albumin complex concentration from around 650 µmol/l in the blood to 1-3 µmol/l in the aqueous humour of the eyes as well as in the cerebrospinal fluid of the brain. At such low concentrations the fatty acid uptake of the target cells - lens epithelial and brain cells - rises with increasing FFA/albumin complex concentrations, especially when the fatty acid load of albumin molecules is mFAR>1. At higher albumin concentrations, for instance in blood plasma or the interstitial tissue spaces, the fatty acid uptake of the target cells becomes increasingly independent of the FFA/albumin complex concentration and is mainly a function of the mFAR (Richieri et al., 1993). In the blood plasma of young people, the mFAR is normally below 1.0. In people over 40 years old, aging increases the mFAR by decreasing the plasma concentration of albumin and enhancing the plasma concentrations of FFA. The increase in the mFAR in association with C6-unsaturated FFA are risk factors for the vascular albumin barriers (Hennig et al., 1984). Damage to the vascular albumin barrier in the eyes and brain increases the concentration of FFA/albumin complex in the aqueous humour as well as in the cerebrospinal fluid, leading to mitochondrial dysfunction and the death of lens epithelial and brain cells, the development of cataracts, and AD. An age-dependent increase in the concentration of FFA/albumin complex has been found in the aqueous humour of 177 cataract patients, correlating with the mitochondria-mediated apoptotic death of lens epithelial cells, lens opacification and cataracts (Iwig et al., 2004). Mitochondrial dysfunction is also an early crucial event in Alzheimer's pathology, closely connected with the generation of amyloid beta peptides (Leuner et al., 2012). Very recently, amyloid beta production has also been confirmed in the lenses of Alzheimer's patients, causing cataracts (Moncaster et al., 2022). In view of this, we propose that there is a common lipotoxic cascade for senile cataract formation and senile AD, initiated by aging and/or systemic diseases, leading to an mFAR>1 in the blood.

Open-Angle and Steroid-Induced Glaucoma in Patients With Retinitis Pigmentosa: A Dangerous Liaison.

Previous studies have reported that patients with retinitis pigmentosa (RP) may develop open-angle and angle-closure glaucoma. We conducted a chart review of patients with RP. Two siblings with RP associated with a mutation in the PDE6B gene (c. 1540del, p.Leu514Trpfs*61) developed cystoid macular edema (CME) as part of the disease. For this reason, they both underwent intravitreal steroid injections. Both brothers developed steroid-induced glaucoma (SIG). Despite undergoing maximal medical therapy, they underwent seton implants to control their intraocular pressure. A third female patient with RP due to a mutation in the RPGR gene underwent cataract surgery. Topical steroids were prescribed and developed SIG. Increased intraocular pressure remains a complication of topical, injected, and systemic steroids. However, steroids may be needed to treat post-operatively and patients with CME. This case series unveils a complex association between RP and key comorbidities in these patients, with a focus on cataracts, glaucoma, and macular edema. Cataract surgery in patients with RP shows a link to the emergence of glaucoma, particularly in those with RPGR and PDE6B gene mutations, revealing a novel association with PDE6B mutations not previously documented. Furthermore, the paper explores a unique parallel with Schwartz-Matsuo syndrome, suggesting that patients with RP undergoing cataract surgery may develop increased intraocular pressure due to an outflow disturbance akin to Schwartz syndrome. This novel perspective deepens our understanding of the pathophysiological mechanisms governing intraocular pressure dynamics in patients with RP. To our knowledge, this is the first report of steroid-induced glaucoma in patients with RP due to mutations in the PDE6B gene. Intraocular pressure evaluation remains of utmost importance in the follow-up of patients with the disease.

Regenerative treatment of ophthalmic diseases with stem cells: Principles, progress, and challenges.

Background: Degenerate eye disorders, such as glaucoma, cataracts and age-related macular degeneration (AMD), are prevalent causes of blindness and visual impairment worldwide. Other eye disorders, including limbal stem cell deficiency (LSCD), dry eye diseases (DED), and retinitis pigmentosa (RP), result in symptoms such as ocular discomfort and impaired visual function, significantly impacting quality of life. Traditional therapies are limited, primarily focus on delaying disease progression, while emerging stem cell therapy directly targets ocular tissues, aiming to restore ocular function by reconstructing ocular tissue. Main text: The utilization of stem cells for the treatment of diverse degenerative ocular diseases is becoming increasingly significant, owing to the regenerative and malleable properties of stem cells and their functional cells. Currently, stem cell therapy for ophthalmopathy involves various cell types, such as embryonic stem cells (ESCs), induced pluripotent stem cells (iPSCs), mesenchymal stem cells (MSCs), and retinal progenitor cells (RPCs). In the current article, we will review the current progress regarding the utilization of stem cells for the regeneration of ocular tissue covering key eye tissues from the cornea to the retina. These therapies aim to address the loss of functional cells, restore damaged ocular tissue and or in a paracrine-mediated manner. We also provide an overview of the ocular disorders that stem cell therapy is targeting, as well as the difficulties and opportunities in this field. Conclusions: Stem cells can not only promote tissue regeneration but also release exosomes to mitigate inflammation and provide neuroprotection, making stem cell therapy emerge as a promising approach for treating a wide range of eye disorders through multiple mechanisms.

Dr. Google vs. Dr. ChatGPT: Exploring the Use of Artificial Intelligence in Ophthalmology by Comparing the Accuracy, Safety, and Readability of Responses to Frequently Asked Patient Questions Regarding Cataracts and Cataract Surgery.

PURPOSE: Patients are using online search modalities to learn about their eye health. While Google remains the most popular search engine, the use of large language models (LLMs) like ChatGPT has increased. Cataract surgery is the most common surgical procedure in the US, and there is limited data on the quality of online information that populates after searches related to cataract surgery on search engines such as Google and LLM platforms such as ChatGPT. We identified the most common patient frequently asked questions (FAQs) about cataracts and cataract surgery and evaluated the accuracy, safety, and readability of the answers to these questions provided by both Google and ChatGPT. We demonstrated the utility of ChatGPT in writing notes and creating patient education materials. METHODS: The top 20 FAQs related to cataracts and cataract surgery were recorded from Google. Responses to the questions provided by Google and ChatGPT were evaluated by a panel of ophthalmologists for accuracy and safety. Evaluators were also asked to distinguish between Google and LLM chatbot answers. Five validated readability indices were used to assess the readability of responses. ChatGPT was instructed to generate operative notes, post-operative instructions, and customizable patient education materials according to specific readability criteria. RESULTS: Responses to 20 patient FAQs generated by ChatGPT were significantly longer and written at a higher reading level than responses provided by Google (p < .001), with an average grade level of 14.8 (college level). Expert reviewers were correctly able to distinguish between a human-reviewed and chatbot generated response an average of 31% of the time. Google answers contained incorrect or inappropriate material 27% of the time, compared with 6% of LLM generated answers (p < .001). When expert reviewers were asked to compare the responses directly, chatbot responses were favored (66%). CONCLUSIONS: When comparing the responses to patients' cataract FAQs provided by ChatGPT and Google, practicing ophthalmologists overwhelming preferred ChatGPT responses. LLM chatbot responses were less likely to contain inaccurate information. ChatGPT represents a viable information source for eye health for patients with higher health literacy. ChatGPT may also be used by ophthalmologists to create customizable patient education materials for patients with varying health literacy.

Malar rash and hand tremor in early symptoms of cerebrotendinous xanthomatosis and the effect of chenodeoxycholic acid on them.

BACKGROUND: Cerebrotendinous xanthomatosis (CTX, OMIM #213700) is a rare but treatable lipid storage disease resulting from mutations in the CYP27A1 gene. PURPOSE: The study aims to evaluate patients diagnosed with CTX and reveal new information, especially about the signs of CTX and patients' response to the treatment. METHODS: The study was conducted retrospectively in 12 definitively diagnosed CTX patients. The patients' clinical, laboratory, imaging, genetic findings, and CDCA (chenodeoxycholic acid) treatment results were analyzed. RESULTS: The median age at diagnosis for the patients was 16.5 years (minimum-maximum: 7-32). Juvenile cataracts, detected in more than 90% (11/12) of the patients, were the most common clinical finding. Malar rash, not previously reported in the literature for CTX, was present in 75% (9/12) of the patients. Hand tremors, the first neurological symptom, occurred in adolescence and were the initial symptom of the disease in five patients. Hand tremors were present in 83.3% (10/12) of the patients. Hand tremors (in 5 patients) and malar rash (in 2 patients) were clinical findings with full recovery due to the CDCA treatment. CONCLUSION: The study defines the malar rash finding, which has not been reported in the literature before, as a possible new clinical finding in CTX disease, attributed to its partial or full recovery with CDCA treatment. Additionally, as a novelty in the literature, our study highlights the full recovery of neurological findings, such as hand tremors, in CTX. Patients presenting with hand tremors and malar rash, especially in adolescence, should undergo CTX investigation for early diagnosis and treatment.

Early Detection and Treatment of Congenital Cataracts Using Fetal Ultrasound: A Case of a Newborn With a Family History of Congenital Cataracts.

This case study highlights the advances in fetal ultrasonography, illustrating its role in early detection and management of congenital cataracts. We present the case of a male infant with a family history of congenital cataracts, where an in-utero ultrasound examination at 25 weeks of gestation revealed potential cataracts. His mother and brother underwent cataract surgery. After birth examination revealed that the infant was diagnosed with bilateral congenital cataracts at two days. Bilateral lens aspiration and anterior vitrectomy without intraocular lens insertion were done. Postnatal examinations and surgical interventions, including bilateral lens phacoemulsification and anterior vitrectomy without intraocular lens insertion, were conducted. This study discusses the importance of early detection, especially in familial cases, and the role of prenatal and postnatal care in managing congenital cataracts. It underscores the need for collaboration between ophthalmologists and obstetricians and the value of psychological support for the parents. The findings advocate for proactive fetal monitoring, particularly in genetically predisposed cases, to facilitate early diagnosis and treatment planning.

MicroRNA-1225-5p Promotes the Development of Fibrotic Cataracts via Keap1/Nrf2 Signaling.

PURPOSE: Fibrotic cataracts, including anterior subcapsular cataract (ASC) as well as posterior capsule opacification (PCO), are a common vision-threatening cause worldwide. Still, little is known about the underlying mechanisms. Here, we demonstrate a miRNA-based pathway regulating the pathological fibrosis process of lens epithelium. METHODS: Gain- and loss-of-function approaches, as well as multiple fibrosis models of the lens, were applied to validate the crucial role of two miR-1225 family members in the TGF-ß2 induced PCO model of human LECs and injury-induced ASC model in mice. RESULTS: Both miR-1225-3p and miR-1225-5p prominently stimulate the migration and EMT process of lens epithelial cells (LECs) in vitro as well as lens fibrosis in vivo. Moreover, we demonstrated that the underlying mechanism for these effects of miR-1225-5p is via directly targeting Keap1 to regulate Keap1/Nrf2 signaling. In addition, evidence showed that Keap1/Nrf2 signaling is activated in the TGF-ß2 induced PCO model of human LECs and injury-induced ASC model in mice, and inhibition of the Nrf2 pathway can significantly reverse the process of LECs EMT as well as lens fibrosis. CONCLUSIONS: These results suggest that blockade of miR-1225-5p prevents lens fibrosis via targeting Keap1 thereby inhibiting Nrf2 activation. The 'miR-1225-Keap1-Nrf2' signaling axis presumably holds therapeutic promise in the treatment of fibrotic cataracts.

Natural Product Isolation of the Extract of Cleome rupicola Fruits Exhibiting Antioxidant Activity.

Cataracts are the leading cause of blindness worldwide, however, there is currently no drug-based treatment. Plants that exhibit antioxidant properties have shown promising anticataract effects, likely because they supplement the activity of glutathione, the major antioxidant in lens cells. An extract of Cleome rupicola, a desert plant found in the United Arab Emirates, has traditionally been used to treat cataracts. Phytochemical screening of the aqueous extract established the presence of flavonoids, tannins, steroid derivatives, and reducing sugars. Fractioning of extracts from the fruits using high-performance liquid chromatography (HPLC) yielded the isolation of the anthelmintic compound cleomin, and its structure was confirmed using mass spectrometry (MS) and nuclear magnetic resonance (NMR) spectroscopy.

Cholesterol Content Regulates the Interaction of αA-, αB-, and α-Crystallin with the Model of Human Lens-Lipid Membranes.

α-Crystallin (αABc) is a major protein comprised of αA-crystallin (αAc) and αB-crystallin (αBc) that is found in the human eye lens and works as a molecular chaperone by preventing the aggregation of proteins and providing tolerance to stress. However, with age and cataract formation, the concentration of αABc in the eye lens cytoplasm decreases, with a corresponding increase in the membrane-bound αABc. This study uses the electron paramagnetic resonance (EPR) spin-labeling method to investigate the role of cholesterol (Chol) and Chol bilayer domains (CBDs) in the binding of αAc, αBc, and αABc to the Chol/model of human lens-lipid (Chol/MHLL) membranes. The maximum percentage of membrane surface occupied (MMSO) by αAc, αBc, and αABc to Chol/MHLL membranes at a mixing ratio of 0 followed the trends: MMSO (αAc) > MMSO (αBc) ≈ MMSO (αABc), indicating that a higher amount of αAc binds to these membranes compared to αBc and αABc. However, with an increase in the Chol concentration in the Chol/MHLL membranes, the MMSO by αAc, αBc, and αABc decreases until it is completely diminished at a mixing ratio of 1.5. The Ka of αAc, αBc, and αABc to Chol/MHLL membranes at a mixing ratio of 0 followed the trend: Ka (αBc) ≈ Ka (αABc) > Ka (αAc), but it was close to zero with the diminished binding at a Chol/MHLL mixing ratio of 1.5. The mobility near the membrane headgroup regions decreased with αAc, αBc, and αABc binding, and the Chol antagonized the capacity of the αAc, αBc, and αABc to decrease mobility near the headgroup regions. No significant change in membrane order near the headgroup regions was observed, with an increase in αAc, αBc, and αABc concentrations. Our results show that αAc, αBc, and αABc bind differently with Chol/MHLL membranes at mixing ratios of 0 and 0.5, decreasing the mobility and increasing hydrophobicity near the membrane headgroup region, likely forming the hydrophobic barrier for the passage of polar and ionic molecules, including antioxidants (glutathione), creating an oxidative environment inside the lens, leading to the development of cataracts. However, all binding was completely diminished at a mixing ratio of 1.5, indicating that high Chol and CBDs inhibit the binding of αAc, αBc, and αABc to membranes, preventing the formation of hydrophobic barriers and likely protecting against cataract formation.

Association of Alpha-Crystallin with Human Cortical and Nuclear Lens Lipid Membrane Increases with the Grade of Cortical and Nuclear Cataract.

Eye lens α-crystallin has been shown to become increasingly membrane-bound with age and cataract formation; however, to our knowledge, no studies have investigated the membrane interactions of α-crystallin throughout the development of cataracts in separated cortical membrane (CM) and nuclear membrane (NM) from single human lenses. In this study, four pairs of human lenses from age-matched male and female donors and one pair of male lenses ranging in age from 64 to 73 years old (yo) were obtained to investigate the interactions of α-crystallin with the NM and CM throughout the progression of cortical cataract (CC) and nuclear cataract (NC) using the electron paramagnetic resonance spin-labeling method. Donor health history information (diabetes, smoker, hypertension, radiation treatment), sex, and race were included in the data analysis. The right eye lenses CM and NM investigated were 64 yo male (CC: 0), 68 yo male (CC: 3, NC: 2), 73 yo male (CC: 1, NC: 2), 68 yo female (CC: 3, NC: 2), and 73 yo female (CC: 1, NC: 3). Similarly, left eye lenses CM and NM investigated were 64 yo male (CC: 0), 68 yo male (CC: 3, NC: 2), 73 yo male (CC: 2, NC: 3), 68 yo female (CC: 3, NC: 2), and 73 yo female (CC: 1, NC: 3). Analysis of α-crystallin binding to male and female eye lens CM and NM revealed that the percentage of membrane surface occupied (MSO) by α-crystallin increases with increasing grade of CC and NC. The binding of α-crystallin resulted in decreased mobility, increased order, and increased hydrophobicity on the membrane surface in male and female eye lens CM and NM. CM mobility decreased with an increase in cataracts for both males and females, whereas the male lens NM mobility showed no significant change, while female lens NM showed increased mobility with an increase in cataract grade. Our data shows that a 68 yo female donor (long-term smoker, pre-diabetic, and hypertension; grade 3 CC) showed the largest MSO by α-crystallin in CM from both the left and right lens and had the most pronounced mobility changes relative to all other analyzed samples. The variation in cholesterol (Chol) content, size and amount of cholesterol bilayer domains (CBDs), and lipid composition in the CM and NM with age and cataract might result in a variation of membrane surface mobility, membrane surface hydrophobicity, and the interactions of α-crystallin at the surface of each CM and NM. These findings provide insight into the effect of decreased Chol content and the reduced size and amount of CBDs in the cataractous CM and NM with an increased binding of α-crystallin with increased CC and NC grade, which suggests that Chol and CBDs might be a key component in maintaining lens transparency.

Humanitarian missions and visual outcomes in cataract surgery: A literature review.

The limited accessibility to ophthalmological services in remote regions of developing countries poses a significant challenge in visual healthcare. Cataracts and refractive errors are prominent causes of visual impairment, and surgery, despite being an efficient option, faces barriers in developing countries due to financial and geographical constraints. Humanitarian missions play a vital role in addressing this issue. The improvement in the accuracy of calculating IOL power through techniques such as keratometry and biometry is a fundamental step towards optimizing surgical outcomes and the quality of life for patients in these underserved regions. In this context, the consideration of keratometry and immersion ultrasound biometry as preoperative assessment standards in cataract surgeries in developing countries is presented as a pertinent and advisable strategy.

Unilateral Cataract and Retinitis Pigmentosa in a Patient With Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, and Cataract (PHARC) Syndrome: A Case Report.

Patients with mutations in the α/ß-hydrolase (ABHD) 12 gene develop ocular complications including cataracts and retinitis pigmentosa (RP), as part of the polyneuropathy, hearing loss, ataxia, RP, and cataract (PHARC) syndrome. A chart review on a patient with a heterozygous mutation on the ABHD12 gene underwent a comprehensive ophthalmic evaluation. Visual acuity was 0 and 1.3 (logMAR) on the right eye (OD) and left eye (OS), respectively. There was pseudophakia in the OS. Fundus examination in OD was normal and pale optic nerve, attenuated vessels, cystoid macular edema, and mid-peripheral bony spicules were found in OS. Visual field test showed a ring scotoma in the OS. Macular optical coherence tomography (OCT) and fundus autofluorescence were compatible with cystoid macular edema of the OS. The electroretinogram (ERG) of left eye was flat. Patient's systemic findings included: polyneuropathy and hearing loss. Unilateral presentation of cataract and RP in a patient with a heterozygous pathogenic mutation on the ABHD12 gene is rare. This could be due to mosaicism. Retinal follow-up is warranted in this patient since manifestations may occur later in the contralateral eye. A heterozygous pathogenic mutation on the ABHD12 gene may lead to partial ocular and systemic manifestations of the PHARC syndrome.

PHARC syndrome which an ultra-rare syndrome with retinitis pigmentosa and cataracts: case report and review of the literature.

BACKGROUND: PHARC syndrome (MIM:612674) is a rare neurodegenerative disorder characterized by demyelinating polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataracts (PHARC). The syndrome is caused by mutations in the ABHD12 gene, which encodes αß-hydrolase domain-containing protein 12 related to endocannabinoid metabolism. PHARC syndrome is one of the rare diseases; so far, only 51 patients have been reported in the literature. METHODS: We evaluated the 25-year-old male patient referred to us due to vision loss, cataracts, and hearing loss. Ophthalmological examinations and genetic analyses were performed using targeted next-generation sequencing. RESULTS: In the genetic analysis, the patient was diagnosed with PHARC syndrome by detecting homozygous (NM_001042472.3): c.871del (p.Tyr291IlefsTer28) novel pathogenic variation in the ABHD12 gene. Following the molecular diagnosis, he was referred to the neurology department for reverse phenotyping and sensorimotor demyelinating polyneuropathy was detected in the neurological evaluation. CONCLUSIONS: In this study, we report a novel variation in ABHD12 gene in the first Turkish-origin PHARC patient. We present this study to contribute genotype-phenotype correlation of PHARC syndrome and emphasize the importance of molecular genetic diagnosis in order to determine the appropriate clinical approach. This report is essential for expanding the phenotypic spectrum in different populations and understanding the genotype-phenotype correlation of PHARC syndrome via novel pathogenic variation in the ABHD12 gene.

Talking technology: exploring chatbots as a tool for cataract patient education.

CLINICAL RELEVANCE: Worldwide, millions suffer from cataracts, which impair vision and quality of life. Cataract education improves outcomes, satisfaction, and treatment adherence. Lack of health literacy, language and cultural barriers, personal preferences, and limited resources may all impede effective communication. BACKGROUND: AI can improve patient education by providing personalised, interactive, and accessible information tailored to patient understanding, interest, and motivation. AI chatbots can have human-like conversations and give advice on numerous topics. METHODS: This study investigated the efficacy of chatbots in cataract patient education relative to traditional resources like the AAO website, focusing on information accuracy,understandability, actionability, and readability. A descriptive comparative design was used to analyse quantitative data from frequently asked questions about cataracts answered by ChatGPT, Bard, Bing AI, and the AAO website. SOLO taxonomy, PEMAT, and the Flesch-Kincaid ease score were used to collect and analyse the data. RESULTS: Chatbots scored higher than AAO website on cataract-related questions in terms of accuracy (mean SOLO score ChatGPT: 3.1 ± 0.31, Bard: 2.9 ± 0.72, Bing AI: 2.65 ± 0.49, AAO website: 2.4 ± 0.6, (p < 0.001)). For understandability (mean PEMAT-U score AAO website: 0,89 ± 0,04, ChatGPT 0,84 ± 0,02, Bard: 0,84 ± 0,02, Bing AI: 0,81 ± 0,02, (p < 0.001)), and actionability (mean PEMAT-A score ChatGPT: 0.86 ± 0.03, Bard: 0.85 ± 0.06, Bing AI: 0.81 ± 0.05, AAO website: 0.81 ± 0.06, (p < 0.001)) AAO website scored better than chatbots. Flesch-Kincaid readability ease analysis showed that Bard (55,5 ± 8,48) had the highest mean score, followed by AAO website (51,96 ± 12,46), Bing AI (41,77 ± 9,53), and ChatGPT (34,38 ± 9,75, (p < 0.001)). CONCLUSION: Chatbots have the potential to provide more detailed and accurate data than the AAO website. On the other hand, the AAO website has the advantage of providing information that is more understandable and practical. When patient preferences are not taken into account, generalised or biased information can decrease reliability.

Ophthalmologists' Perspective on Barriers to Cataract Surgery and Surgical Productivity in Ethiopia, Ghana, and Zambia: A Descriptive, Mixed-Methods Survey.

PURPOSE: While progress was made towards the Vision 2020: The Right to Sight goals, Ethiopia, Ghana, and Zambia fell short of the recommended cataract surgical rate (CSR) on a national level. Post-operative cataract surgical outcomes are also lower compared to other regions. This study aimed to describe perceived barriers to cataract surgical uptake, factors related to surgeon surgical productivity, and surgical offerings in each of these countries. METHODS: An online survey was sent to ophthalmologists practicing in Ethiopia, Ghana, and Zambia. Responses were collected between June 25, 2021 and January 30, 2022. RESULTS: Responses were received from 122 ophthalmologists from Ethiopia, Ghana, and Zambia. The estimated participation rate was 47% (122/257). Distance to cataract surgical centres, lack of surgical centres, and lack of surgical equipment were among the top 10 most agreed upon barriers by respondents within each country. Many respondents reported that current financial reimbursement does not incentivise maximum productivity in themselves (56%, 68/122) or their staff (61%, 74/122). Surgeons proposed several ways to improve productivity incentives. Private practice was perceived to have the best reimbursement incentives (77%, 94/122), whereas government hospitals were least agreed upon (4%, 5/122). Discrepancies in timely post-operative refraction and eyeglasses disbursement were reported. CONCLUSIONS: Overcoming the identified barriers, improving surgeon productivity, and addressing identified deficits in cataract care will likely reduce the backlog of cataract blindness while ensuring increasingly improved patient outcomes.

A case of congenital cataracts with hypotrichosis caused by compound heterozygous variants in the LSS gene.

BACKGROUND: Patients with biallelic variants in the lanosterol synthase (LSS) gene has been reported to exhibit phenotypes as follows: non-syndromic form of hypotrichosis, congenital cataracts, and alopecia with intellectual disability or growth retardation. However, genotype-phenotype correlations in the LSS gene are still not completely clear. METHODS: In this study, we reported a Chinese girl who had congenital cataracts with hypotrichosis. The trio exome sequencing was performed to elucidate the genetic cause of the patient. RESULTS: We identified compound heterozygous variants (c.296G>A, p.G99D and c.1025T>G, p.I342S) in the LSS gene. Both variants altered the amino acid coding at highly conserved amino acid residues and were predicted to be deleterious using prediction software. CONCLUSION: Our report expands the spectrum of variants in the LSS gene and will be helpful for genotype-phenotype correlations study.

In utero ultrasound diagnosis of bilateral cataract and hydrops in a mule pregnancy: Case report.

Once diagnosed pregnant with ultrasound at an early stage of gestation, mares are usually not examined before foaling. The objective of this case report was to highlight the importance of transrectal ultrasound screening examination and to report a unique case of fetal congenital cataracts associated with other feto-placental abnormalities in a mule pregnancy, its in utero ultrasound diagnosis and outcome. A 17-year-old Thoroughbred research mare carrying a mule fetus was examined by transrectal ultrasonography at 186 days of gestation for a routine pregnancy examination. Ultrasonography allowed in utero diagnosis of fetal congenital cataracts, hyperechogenic bowels, intrauterine growth restriction (IUGR), hydramnios and placental abnormalities. The mare was monitored bi-monthly to observe the progress of the pregnancy. At 258 days of gestation, the abnormal chorioallantois detached at the cervical star and at 272 days, fetal asystole was diagnosed. Abortion was induced and the fetus was delivered uneventfully. Post-mortem gross and histologic findings confirmed the prenatal ultrasonographic diagnosis. This case highlights the diagnostic value of a complete fetal ultrasound examination to detect equine fetal abnormalities.