Diagnostic capabilities of ChatGPT in ophthalmology.

PURPOSE: The purpose of this study is to assess the diagnostic accuracy of ChatGPT in the field of ophthalmology. METHODS: This is a retrospective cohort study conducted in one academic tertiary medical center. We reviewed data of patients admitted to the ophthalmology department from 06/2022 to 01/2023. We then created two clinical cases for each patient. The first case is according to the medical history alone (Hx). The second case includes an addition of the clinical examination (Hx and Ex). For each case, we asked for the three most likely diagnoses from ChatGPT, residents, and attendings. Then, we compared the accuracy rates (at least one correct diagnosis) of all groups. Additionally, we evaluated the total duration for completing the assignment between the groups. RESULTS: ChatGPT, residents, and attendings evaluated 126 cases from 63 patients (history only or history and exam findings for each patient). ChatGPT achieved a significantly lower accurate diagnosis rate (54%) in the Hx, as compared to the residents (75%; p < 0.01) and attendings (71%; p < 0.01). After adding the clinical examination findings, the diagnosis rate of ChatGPT was 68%, whereas for the residents and the attendings, it increased to 94% (p < 0.01) and 86% (p < 0.01), respectively. ChatGPT was 4 to 5 times faster than the attendings and residents. CONCLUSIONS AND RELEVANCE: ChatGPT showed low diagnostic rates in ophthalmology cases compared to residents and attendings based on patient history alone or with additional clinical examination findings. However, ChatGPT completed the task faster than the physicians.

RATES OF RECURRENT RETINAL DETACHMENT AFTER VAGINAL VERSUS CESAREAN DELIVERIES: A Retrospective Analysis and Review of the Literature.

PURPOSE: To evaluate the risk of a retinal redetachment in women after vaginal delivery versus cesarean delivery. METHODS: Retrospective cohort analysis of patients diagnosed with retinal detachment (RD) who had later delivered in one tertiary medical center. Recurrence rates of RD were obtained from medical charts. RESULTS: A total of 967 women with RDs were evaluated, and 66 patients met the inclusion criteria. The mean age at the time of RD was 22.64 ± 5.81 SD years and 21.75 ± 5.47 SD years in the vaginal delivery group and the cesarean section group, respectively. None of the patients had a history of eye surgery or traumatic eye injury before the event of RD. In all patients, the detached retina was surgically reattached. Retinal detachment was not recorded in the fellow eye during follow-up. We report four cases of redetachment after birth in four women. In our study, there was a 5% rate (n = 2) of RD after a vaginal delivery as compared with a 7.5% (n = 2) redetachment rate for patients after a cesarean delivery ( P = 0.654). CONCLUSION: The risk of a redetachment of the retina in women is not increased after a vaginal delivery as compared with a cesarean delivery. Therefore, in our opinion, there is no ophthalmic benefit in a cesarean section for a woman with prior RD.

Accuracy of intra ocular lens calculation formulae in patients with pseudoexfoliation syndrome.

BACKGROUND: The purpose of this study was to investigate the visual and refractive outcomes in patients with pseudoexfoliation (PXF) undergoing routine cataract surgery and to compare the accuracy of intraocular lens (IOL) power calculation formulae. METHODS: Retrospective case-series study from Shamir medical center, a public hospital, Israel. Medical records of patients who underwent routine cataract surgery between January 2019 and August 2021 were investigated. Postoperative visual acuity and manifest refraction were examined. The error in predicted refraction and IOL power calculation accuracy within a range of ± 0.50 to ± 1.00 diopters were compared between different IOL calculating formulae. RESULTS: 151 eyes of 151 patients ages 73.9 ± 7.1 years were included in this study- 58 eyes in the PXF group and 93 eyes in the control group. The mean absolute error (MAE) for the BUII formula was 0.63D ± 0.87 for the PXF group and 0.36D ± 0.48 for the control group (p < 0.05). The MAE for the Hill-RBF 3.0 formula was 0.61D ± 0.84 for the PXF group and 0.42D ± 0.55 for the control group (p = 0.05). There were significant differences in MAE and MedAE between PXF group and control group measures (p < 0.05). In the PXF group there were no significant differences between the different formulae. CONCLUSIONS: There were significant differences in accuracy of IOL power calculations in all formulae between PXF group and control group measures. PXF patients show hyperopic shift from predicted refraction. Barret universal II formula had the highest proportion of eyes with absolute error in prediction below or equal to 0.50 D in both PXF and control groups.

Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.

Purpose: This study sought to describe the phenotype frequency and genetic basis of inherited retinal diseases (IRDs) among a nationwide cohort of Israeli Jewish patients of Ethiopian ancestry. Methods: Patients' data-including demographic, clinical, and genetic information-were obtained through members of the Israeli Inherited Retinal Disease Consortium (IIRDC). Genetic analysis was performed by either Sanger sequencing for founder mutations or next-generation sequencing (targeted next-generation sequencing or whole-exome sequencing). Results: Forty-two patients (58% female) from 36 families were included, and their ages ranged from one year to 82 years. Their most common phenotypes were Stargardt disease (36%) and nonsyndromic retinitis pigmentosa (33%), while their most common mode of inheritance was autosomal recessive inheritance. Genetic diagnoses were ascertained for 72% of genetically analyzed patients. The most frequent gene involved was ABCA4. Overall, 16 distinct IRD mutations were identified, nine of which are novel. One of them, ABCA4-c.6077delT, is likely a founder mutation among the studied population. Conclusions: This study is the first to describe IRDs' phenotypic and molecular characteristics in the Ethiopian Jewish community. Most of the identified variants are rare. Our findings can help caregivers with clinical and molecular diagnosis and, we hope, enable adequate therapy in the near future.

Micro chromosomal deletions at the NYS7 locus and autosomal dominant nystagmus.

Nystagmus is an ocular condition characterized by bilateral involuntary ocular oscillation which can severely affect vision. When not associated with other ocular or systemic diseases, it is referred to as idiopathic or congenital motor nystagmus (CMN). Genome-wide linkage studies have previously identified several loci associated with CMN, however the genes responsible for some of these loci have yet to be identified. We have examined a large, five-generation family with autosomal dominant CMN. Our purpose was to characterize the clinical manifestations and reveal the molecular basis of the disease in this family. In addition to full ophthalmic examination and imaging, molecular analysis included copy number variation analysis, linkage studies, and Sanger sequencing. Expression analyses of candidate genes was done by real-time PCR. Of the 68 family members, 27 subjects in five-generations had CMN, in line with an autosomal dominant inheritance pattern. Molecular analysis was performed on 27 members, 15 of them affected by CMN. Copy number variation analysis using array comparative genomic hybridization (aCGH) revealed a novel deletion located on 1q32 (NYS7) among affected individuals. Linkage analysis using polymorphic markers demonstrated full segregation with a heterozygous haplotype in all affected patients, with a LOD score of >5. Sanger sequencing of affected subjects revealed a novel deletion of 732,526 bp in the linkage interval. No protein-coding genes exist within the deleted region; however, the deletion disrupts topologically associated domains encompassing the gene NR5A2 and the non-protein coding MIR181A. Both are strongly associated with other genes expressed in the retina such as PROX1, which in turn is also associated with genes related to nystagmus such as PAX6. We therefore hypothesized that the deletion might affect NR5A2 and MIR181A expression, causing CMN. Expression analysis by real-time PCR showed significantly lower expression of NR5A2, and significantly higher expression of PROX1 among patients compared with controls. To conclude, among a large five-generation family with autosomal dominant CMN, a large deletion in the interval of NYS7 was linked with the disease. No protein-coding genes exist inside the deleted region, and so the exact mechanism in which CMN is caused is uncertain. Based on topological association and expression analyses we suggest a possible mechanism for the pathogenesis.

Iris color as a predictive factor for intraoperative floppy iris syndrome.

PURPOSE: To assess the influence of iris color on the predisposition for intraoperative floppy iris syndrome (IFIS) during cataract surgery. METHODS: Medical records of patients who underwent cataract surgery in two medical centers between July 2019 and February 2020 were reviewed. Patients younger than 50 years, with preexisting ocular conditions affecting pupillary size or anterior chamber depth (ACD), and combined procedures were excluded. The remaining patients were questioned via telephone regarding their iris color. The association of IFIS occurrence and severity with iris color was tested using univariant and multivariant analyses. RESULTS: Overall, 155 eyes of 155 patients were included, 74 with documented IFIS and 81 without. The mean age was 74.03 ± 7.09 years, and 35.5% were female. The most common iris color among study eyes was brown (110/155, 70.97%), followed by blue (25/155, 16.13%) and green (20/155, 12.90%). Compared to brown-colored eyes, blue irises exhibited a 4.50-fold risk for IFIS (OR = 4.50, 95% CI: 1.73-11.70, p = 0.002), and green irises 7.00-fold risk (OR = 7.00, 95% CI: 2.19-22.39, p = 0.001). After adjusting for possible confounders, the results remained statistically significant (p < 0.01). Light-colored irises tended to exhibit a more severe IFIS compared to the brown iris group (p < 0.001). IFIS bilaterality was also affected by iris color (p < 0.001), with a 10.43-fold risk for fellow eye IFIS in the green iris group compared to eyes with brown irises (OR = 10.43, 95% CI: 3.35-32.54, p < 0.001). CONCLUSIONS: Light iris color was associated with a significantly increased risk of IFIS occurrence, severity, and bilaterality on univariate and multivariate analysis in this study.

Preoperative atropine and non-steroidal anti-inflammatory drugs for the prevention of intraoperative floppy iris syndrome.

PURPOSE: To examine the efficacy of preoperative administration of topical atropine 1% and non-steroidal anti-inflammatory drugs (NSAIDs) for prevention of intraoperative floppy iris syndrome (IFIS). METHODS: In this retrospective cohort study, patients who underwent cataract surgery by phacoemulsification between July 2019 and February 2020 in two hospitals were included. Both hospitals are located in central Israel, have similar patient demographics and employ similar surgical techniques. They, however, differ in policy of IFIS prevention. In Meir Medical Center no preventive medications are given pre-operatively, while in Shamir Medical Center patients at-risk for IFIS receive topical atropine 1% once daily and non-steroidal anti-inflammatory drugs (NSAIDs) thrice daily for 3 days preoperatively. RESULTS: Overall, 207 eyes of 207 patients with history of alpha-antagonist use were included. Mean age was 74.9 ± 7.8 years and 82.1% (n = 170) were male. Among patients from the pretreating center 86.8% (n = 92/106) were pre-treated with either NSAIDs or atropine preoperatively, while in the non-pretreating center no treatment was prescribed (n = 0/101). IFIS rate among the non-pretreating center was 29.7% (n = 30/101) compared to 15.1% (n = 16/106) in the pretreating center (p = 0.012). When strictly comparing treated to untreated patients, the treated group had an IFIS rate of 12.0% compared to 30.4% among untreated (p = 0.001). Adjusted for age and gender results remain consistent (odds ratio 0.329 for treated patients, 95% confidence interval: 0.150-0.720; p = 0.005). CONCLUSIONS: IFIS rates were significantly lower in the pretreating center compared to the non-pretreating center. When comparing strictly treated to untreated patients, differences were even more pronounced.

THE TARGET SIGN: A Near Infrared Feature and Multimodal Imaging in a Pluri-Ethnic Cohort with RDH5-Related Fundus Albipunctatus.

PURPOSE: Retinol dehydrogenase 5 (RDH5)-related fundus albipunctatus can present with phenotypic variability. Our purpose was to investigate new clinical characteristics and multimodal imaging findings in patients from different ethnic origins, carrying different mutations. METHODS: Multicenter international retrospective case series of 18 patients with genetically confirmed RDH5-related fundus albipunctatus. Patients' files were reviewed for fundus images, visual acuity, macular optical coherence tomography scans, near-infrared images, fundus autofluorescence, electroretinogram, and genetic mutations. Imaging and electroretinogram findings. RESULTS: All eyes (n = 36, 100%) showed small circular findings seen on near-infrared images, termed as the "target sign," correlating to the yellowish dots seen clinically and to the distinct hyperreflective linear lesions on optical coherence tomography at the level between external limiting membrane and retinal pigment epithelium. Perifoveal atrophy with foveal sparing was seen in 4 eyes of 2 patients (both RDH5-c.160C>T, p.R54X mutation). Fundus autofluorescence revealed small hyperautofluorescent dots (n = 16, 44.4%). Scotopic electroretinograms were significantly reduced in all cases with an electronegative pattern, 66.7% displayed cone dysfunction. CONCLUSION: Our results show distinct imaging findings present in all patients with fundus albipunctatus independent of ethnicity or genetic mutation. Our results can facilitate the current algorithm to diagnose RDH5-related fundus albipunctatus and allow for targeted genetic testing.

Preoperative ocular characteristics predicting the development of intraoperative floppy iris syndrome regardless of alpha-antagonist exposure status.

PURPOSE: To assess structural risk factors for intraoperative floppy iris syndrome (IFIS) available on preoperative examination before cataract surgery. METHODS: In this retrospective study, medical records of patients who underwent cataract surgery in Shamir Medical Center, between July and September 2019, were reviewed. Patients younger than 50 years, with preexisting ocular conditions affecting the pupillary size or anterior chamber depth (ACD), and combined procedures were excluded. Association of IFIS with preoperative ocular parameters was tested using uni- and multivariant analyses. RESULTS: Overall, 394 eyes of 394 patients were included. The mean age was 72.48 ± 8.63 years, and 58.4% were female. IFIS occurred in 18 eyes (4.6%), seven (38.89%) of which had been previously treated with alpha-antagonists. Patients in the IFIS group were significantly older compared with those in the non-IFIS group (78.1 ± 6.7 vs. 72.2 ± 8.6 years, P = 0.005), with no significant gender difference. The mydriatic pupil diameter was significantly smaller in the IFIS group (5.73 ± 1.16 vs. 6.97 ± 1.03 mm, P < 0.001), and the lens thickness (LT) was larger (4.93 ± 0.42 vs. 4.49 ± 0.42 mm, P = 0.001). ACD was inversely correlated with LT (r = - 0.613, P < 0.001) and positively correlated with pupil diameter (r = 0.252, P < 0.001). On univariate analysis, ACD was significantly shallower in the IFIS group (2.88 ± 0.49 vs. 3.14 ± 0.39 mm, P = 0.008). In multivariant analysis controlling for alpha-antagonist use, both LT and mydriatic pupil diameter remained significantly predictive of IFIS (LT: OR 9.9, 95%CI 1.9-49, P = 0.005; pupil diameter OR 0.427, 95%CI 0.26-0.69, P < 0.001). CONCLUSIONS: Increased LT and decreased mydriatic pupil diameter were associated with increased IFIS risk regardless of alpha-antagonist treatment status.

Ocular involvement in coronavirus disease 2019 (COVID-19): a clinical and molecular analysis.

PURPOSE: Coronavirus disease 2019 (COVID-19) caused a global pandemic with millions infected worldwide. Little is known on the ocular involvement associated with the disease. The aim of this study was to assess the clinical and molecular ocular involvement among patients with confirmed COVID-19 admitted to a tertiary care facility. METHODS: Consecutive patients admitted to the COVID-19 Ward of the Shamir Medical Center in Israel during March and April, 2020 were included. The control group included patients negative for COVID-19 admitted during a similar period to a different ward. Patients were examined by trained Ophthalmologists. SARS-CoV-2 conjunctival swab samples were obtained. RESULTS: Included were 48 patients, 16 with confirmed COVID-19 and 32 controls. Median patient age was 68.5 (interquartile range: 31.5, mean: 63 ± 21) years and 48% were male. Active conjunctival injection was present in three patients (19%) with COVID-19, compared to none in the controls (p = 0.034). Patients with COVID-19 were more likely to complain of foreign body sensation (31.3% vs 3.1%, p = 0.005) and redness of the eye (25% vs 0%, p = 0.003). Conjunctival injection was associated with loss of smell and taste (75% vs 7.7%, p = 0.018). Viral conjunctival swab tests all showed negative results for all three viral genes tested (E, N, and RdRp). CONCLUSIONS: Among patients admitted to a tertiary referral center with confirmed COVID-19, active conjunctival injection was noted in one out of five cases, and was associated with loss of smell and taste. Conjunctival swabs for viral RNA were negative in patients with and without ocular involvement.

A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).

Inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive degeneration of photoreceptors. These diseases show marked phenotypic and genetic heterogeneity. The Israeli IRD consortium (IIRDC) was established in 2013 with the goal of performing clinical and genetic mapping of the majority of Israeli IRD patients. To date, we recruited 2,420 families including 3,413 individuals with IRDs. On the basis of our estimation, these patients represent approximately 40% of Israeli IRD patients. To the best of our knowledge, this is, by far, the largest reported IRD cohort, and one of the first studies addressing the genetic analysis of IRD patients on a nationwide scale. The most common inheritance pattern in our cohort is autosomal recessive (60% of families). The most common retinal phenotype is retinitis pigmentosa (43%), followed by Stargardt disease and cone/cone-rod dystrophy. We identified the cause of disease in 56% of the families. Overall, 605 distinct mutations were identified, of which 12% represent prevalent founder mutations. The most frequently mutated genes were ABCA4, USH2A, FAM161A, CNGA3, and EYS. The results of this study have important implications for molecular diagnosis, genetic screening, and counseling, as well as for the development of new therapeutic strategies for retinal diseases.

Myopia and Childhood Migration: A Study of 607 862 Adolescents.

PURPOSE: Immigration studies can shed light on myopia development and reveal high-risk populations. To this end, we investigated the association among immigration, age at immigration, and myopia occurrence during adolescence. DESIGN: Population-based, retrospective, cross-sectional study. PARTICIPANTS: Six hundred seven thousand eight hundred sixty-two adolescents, Israeli born and immigrants, with origins in the former Union of Soviet Socialist Republics (USSR), Ethiopia, or Israel, assessed for medical fitness for mandatory military service at 17 years of age between 1993 and 2016. METHODS: Myopia and high myopia were defined based on right eye refractive data. Age at immigration was categorized into 0 to 5 years of age, 6 to 11 years of age, and 12 to 19 years of age. Univariate and multivariate logistic regression models were created. Myopia odds ratios (ORs) were calculated according to immigration status, with Israeli-born natives as controls. Next, myopia ORs were calculated according to age at immigration, with Israeli-born of same origin as controls. MAIN OUTCOME MEASURES: Myopia prevalence and ORs. RESULTS: Myopia was less prevalent among immigrants than Israeli-born controls. When stratified according to age at immigration, a decrease in myopia prevalence and ORs with increasing age at migration were observed, most prominent in immigrants arriving after 11 years of age, who also showed lower high-myopia ORs. The immigrants from the USSR and Ethiopia arriving after 11 years of age showed a myopia OR of 0.65 (95% confidence interval [CI], 0.63-0.67; P < 10-205) and 0.52 (95% CI, 0.46-0.58; P < 10-27) compared with the Israeli-born controls. Notably, Ethiopians arriving earlier than 5 years of age showed a 2-fold higher myopia OR than those migrating after 11 years of age. CONCLUSIONS: Immigrants arriving after 11 years of age showed markedly lower ORs for myopia and high myopia relative to Israeli-born controls or those arriving during early childhood, likely because of environmental and lifestyle changes. Differences between immigrants arriving up to 5 years of age and those arriving between 6 and 11 years of age were relatively smaller, suggesting exposures at elementary school age play a greater role in this population.

FOXC1 variant in a family with anterior segment dysgenesis and normal-tension glaucoma.

Our study describes the glaucoma phenotype in a family with Axenfeld-Rieger syndrome (ARS) and a FOXC1 variant. Included were 20 subjects from a large three generation family of Jewish Indian ancestry. Subjects underwent a comprehensive ophthalmic examination including automated perimetry and optical coherence tomography. Eight subjects were available for molecular analysis which included whole genome sequencing on selected patients and Sanger sequencing for variant screening. Eleven patients demonstrated a wide spectrum of Axenfeld-Rieger anomaly signs and symptoms. These ranged from subtle angle abnormalities to remarkable anterior segment abnormalities such as corectopia, iris adhesions and strands. Among them, six had glaucoma and two were glaucoma suspects. Of the six subjects with glaucoma three had high-tension glaucoma and two had normal-tension glaucoma. Molecular analysis revealed a previously described pathogenic variant in the FOXC1 gene (c.378C > G p.I126M; rs104893958), in six affected patients which was not identified in two healthy siblings. Molecular analysis also revealed a PITX2 missense variant (c.28T > A p.L10M; rs755864040) which did not segregate with clinical findings and was considered likely benign. In conclusion, patients with ARS due to FOXC1 variants may present with glaucomatous optic nerve damage without apparent elevation in IOP. Normal-tension glaucoma is less commonly reported in individuals with ARS and a comprehensive glaucoma assessment may be warranted in these individuals even with normal IOP. These findings raise the possibility that glaucomatous damage associated with FOXC1 is not only due to high IOP.

The pathogenicity of SLC38A8 in five families with foveal hypoplasia and congenital nystagmus.

PURPOSE: A recently described subtype of foveal hypoplasia with congenital nystagmus and optic-nerve-decussation defects was found to be associated with mutations in the SLC38A8 gene. The aim of this study is to advance the clinical and molecular knowledge of SLC38A8 gene mutations. METHODS: Five Israeli families with congenital foveal hypoplasia were studied, two of Karait Jewish origins and three of Indian Jewish origins. Subjects underwent a comprehensive ophthalmic examination including retinal photography and ocular coherence tomography. Molecular analysis including whole exome sequencing and screening of the SLC38A8 gene for specific disease-causing variants was performed. RESULTS: Eight affected individuals were identified, all had congenital nystagmus and all but one had hypoplastic foveal pits. Anterior segment dysgenesis was observed in only one patient, one had evidence of developmental delay and another displayed early age-related macular degeneration (AMD). Molecular analysis revealed a recently described homozygous mutation, c.95T > G; p.Ile32Ser, in two families of Jewish Indian descent, and the same mutation in two families of Karaite Jewish descent. In a patient with only one pathogenic mutation (c.95T > G; p.Ile32Ser), a possible partial clinical expression of the disorder was seen. One patient of Jewish Indian descent was found to be compound heterozygous for c.95T > G; p.Ile32Ser and a novel mutation c.490_491delCT; p.L164Vfs*41. CONCLUSIONS: In five unrelated families with congenital nystagmus and foveal hypoplasia, mutations in the SLC38A8 gene were identified. Possible partial expression in a heterozygous patient was observed and novel potential disease-related phenotypes were identified including early-onset AMD and developmental delay. A novel mutation was also identified and a similar mutation in both Indian and Karaite Jewish ethnicities could be suggestive for common ancestry.

Effect of light and diurnal variation on macular thickness in X-linked retinoschisis: a case series.

BACKGROUND: Diurnal variations in foveal thickness have been reported in several ocular pathologies including X-linked retinoschisis (XLRS), but its underlying mechanism is poorly understood. Rods are active under scotopic conditions with high metabolic demand, and its decrease may have positive effect on metabolic activity and macular thickness. The purpose of this study is to evaluate whether exposure to light and diurnal variation influence macular thickness in XLRS patients. METHODS: Five patients with clinical suspicion of XLRS underwent RS1 gene sequencing and optical coherence tomography measurements at three consecutive times: morning following sleep in a dark room, morning following sleep in an illuminated room, and late afternoon following sleep in an illuminated room. Central macular thickness (CMT) was compared between measurements, and molecular analysis was performed. RESULTS: Five RS1 mutations were identified: p.Gly140Arg, p.Arg141Cys, p.Gly109Glu, p.Pro193Leu, and p.Arg200His in patients 1-5, respectively. Two patients (4-5) had atrophied macula and were excluded from macular thickness variation analysis. A significant decrease in CMT between morning and afternoon measurements was observed in all patients (1-3: mean: 455.0 ± 32 µm to 342.17 ± 39 µm, 25%). Morning measurements following sleep in an illuminated room show a CMT reduction in all eyes of all patients with a mean reduction of 113 µm (mean: 547.17 ± 105 µm to 455.0 ± 32 µm, 17%). CONCLUSIONS: Among XLRS patients, CMT decreased at the afternoon compared to the morning of the same day and may be reduced following sleep in an illuminated room. These results help shed light on the pathophysiologic process underlying intraretinal fluid accumulation involved with the disease.

Clinical outcomes of Ankoris toric intraocular lens implantation using a computer-assisted marker system.

PURPOSE: To report the clinical outcomes of patients who underwent cataract surgery with implantation of Ankoris monofocal toric intraocular lens (IOL) (PhysIOL SA, Liège, Belgium) using the Zeiss Callisto Eye (Carl Zeiss AG, Dublin, CA). METHODS: We conducted a retrospective case series of patients who underwent routine cataract extraction and implantation of Ankoris toric IOL using the Zeiss Callisto eye between January 2018 and December 2018 by four senior surgeons. Patients' medical records were reviewed, and clinical outcomes including postoperative refraction, visual acuity outcomes, IOL position and deviation from planned axis were collected. RESULTS: Fifty-six eyes of 56 patients were included, 48% were female, and the mean age was 70 ± 8 years. Patients with pseudoexfoliation syndrome, glaucoma or keratoconus were excluded from the study. Pre-operative mean corneal astigmatism was 2.38 ± 0.78 diopters (D), and mean implanted IOL cylindrical power was 3.06 ± 1.07 D. IOL rotation 30 days postoperatively was within 5° in 82% of eyes and between 6° and 10° in 10.8% of eyes. Mean postoperative refractive astigmatism 30 days postoperatively was 0.22 ± 0.36 D; in 84% of eyes the postoperative refractive astigmatism was ≤ 0.50 D. IOL rotation significantly increased between day 1 to day 7 postoperatively (1.91 ± 3.15° to 3.18 ± 3.3°, P = 0.001). However, no significant rotation had occurred between day 7 and day 30 postoperatively (P = 0.093). CONCLUSION: Cataract surgery with implantation of Ankoris monofocal toric IOL using the Zeiss Callisto Eye marking system is predictable and effective in reducing refractive astigmatism.

Bi-allelic Truncating Mutations in CEP78, Encoding Centrosomal Protein 78, Cause Cone-Rod Degeneration with Sensorineural Hearing Loss.

Inherited retinal diseases (IRDs) are a diverse group of genetically and clinically heterogeneous retinal abnormalities. The present study was designed to identify genetic defects in individuals with an uncommon combination of autosomal recessive progressive cone-rod degeneration accompanied by sensorineural hearing loss (arCRD-SNHL). Homozygosity mapping followed by whole-exome sequencing (WES) and founder mutation screening revealed two truncating rare variants (c.893-1G>A and c.534delT) in CEP78, which encodes centrosomal protein 78, in six individuals of Jewish ancestry with CRD and SNHL. RT-PCR analysis of CEP78 in blood leukocytes of affected individuals revealed that the c.893-1G>A mutation causes exon 7 skipping leading to deletion of 65bp, predicted to result in a frameshift and therefore a truncated protein (p.Asp298Valfs(∗)17). RT-PCR analysis of 17 human tissues demonstrated ubiquitous expression of different CEP78 transcripts. RNA-seq analysis revealed three transcripts in the human retina and relatively higher expression in S-cone-like photoreceptors of Nrl-knockout retina compared to rods. Immunohistochemistry studies in the human retina showed intense labeling of cone inner segments compared to rods. CEP78 was reported previously to interact with c-nap1, encoded by CEP250 that we reported earlier to cause atypical Usher syndrome. We conclude that truncating mutations in CEP78 result in a phenotype involving both the visual and auditory systems but different from typical Usher syndrome.

Müller's Muscle-conjunctival Resection Combined With Tarsectomy for Treatment of Congenital Ptosis.

PURPOSE: To evaluate the efficacy of Müller's muscle-conjunctival resection combined with tarsectomy for the treatment of congenital ptosis. METHODS: A retrospective, noncomparative case series was performed on 38 eyes of 36 patients who underwent Müller's muscle-conjunctival resection combined with tarsectomy for the treatment of congenital ptosis. Age range was 2-25 years (mean: 7.86 years). Follow-up measurements taken up to 4 years after procedure were compared with baseline values. RESULTS: Thirty-six patients presenting with congenital ptosis underwent Müller's muscle-conjunctival resection combined with tarsectomy. All patients had fair-to-good levator function of 5-10 mm. A mean improvement in the margin reflex distance-1 of 2.79 mm (p value < 0.0001) was noted. All cases except one achieved excellent lid height and postoperative symmetry of the eyelids. CONCLUSIONS: Müller's muscle-conjunctival resection combined with tarsectomy is a safe and effective procedure in the treatment of congenital ptosis in patients with moderate-to-good levator function. The surgery is rapid with quick recovery time. No complications were noted.The authors describe a retrospective case analysis of patients who underwent Müller's muscle-conjunctival resection combined with tarsectomy, for the treatment of congenital ptosis with moderate-to-good levator function, demonstrates excellent results.

[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES].

INTRODUCTION: The sense of vision is highly important for humans and its loss markedly affects function and quality of life. Many inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive degeneration of photoreceptor cells. These diseases show clinical and genetic heterogeneity. AIMS: The Israeli IRD consortium (IIRDC) was established with the goal of performing clinical and genetic mapping of IRDs in the Israeli population. METHODS: Clinical evaluation is carried out at electroretinography (ERG) centers and ophthalmology departments, where the patients undergo a comprehensive eye exam, including testing of visual acuity, refractive error, imaging techniques and ERG tests. Genetic analysis is performed using Sanger sequencing, analysis of founder mutations, and whole exome sequencing. RESULTS: We recruited over 2,000 families including more than 3,000 individuals with IRDs. The most common inheritance pattern is autosomal recessive (65% of families). The most common retinal phenotype is retinitis pigmentosa (RP- 45% of families), followed by cone/cone-rod dystrophy, Stargardt Disease and Usher syndrome. We identified the cause of disease in 51% of families, mainly due to mutations in ABCA4, USH2A, FAM161A, CNGA3, and EYS. IIRDC researchers were involved in the identification of 16 novel IRD genes. In parallel, IIRDC members are involved in the development of therapeutic modalities for these currently incurable diseases. CONCLUSIONS: IIRDC works in close collaborative efforts aiming to continue and recruit for the genotype - phenotype study from the vast majority of Israeli IRD families, to identify all disease-causing mutations, and to tailor therapeutic interventions to each IRD patient.