Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico.

BACKGROUND: Inherited retinal dystrophies are hereditary diseases which have in common the progressive degeneration of photoreceptors. They are a group of diseases with clinical, genetic, and allelic heterogeneity. There is limited information regarding the genetic landscape of inherited retinal diseases in Mexico, therefore, the present study was conducted in the northeast region of the country. METHODS: Patients with inherited retinal dystrophies were included. A complete history, full ophthalmological and medical genetics evaluations, and genetic analysis through a targeted NGS panel for inherited retinal dystrophies comprising at least 293 genes were undertaken. RESULTS: A total of 126 patients were included. Cases were solved in 74.6% of the study's population. Retinitis pigmentosa accounted for the most found inherited retinal disease. Ninety-nine causal variants were found, being USH2A and ABCA4 the most affected genes (26 and 15 cases, respectively). CONCLUSIONS: The present study documents the most prevalent causative genes in IRDs, as USH2A, in northeastern Mexico. This contrasts with previous reports of IRDs in other zones of the country. Further studies, targeting previously unstudied populations in Mexico are important to document the genetic background of inherited retinal dystrophies in the country.

Comparative Study of Two Infrared Meibographers in Evaporative Dry Eye Versus Nondry Eye Patients.

OBJECTIVE: To compare the measurement of the meibomian gland (MG) dropout between two infrared meibographers in patients with and without dry eye. METHODS: The right eyelids of each patient were imaged using the Antares and Cobra meibography devices. All images were analyzed using Phoenix software to calculate the percentage of the MG dropout. Lipid layer thickness, eyelid margin characteristics, ocular surface staining, MG secretion, number of expressible glands, and noninvasive tear breakup time were also evaluated. A comparison between nondry eye and evaporative dry eye was performed. RESULTS: Eighty participants (mean age, 36.93 years and 51.3% women) were included, of which 67.5% had nondry eye. A significant difference was observed in the dropout percentage of the superior eyelid between the Antares and Cobra devices (P=0.007) for all participants and when only the nondry eye patients were examined. In patients with dry eye, no significant differences were found in the dropout measurements of both eyelids. CONCLUSIONS: Statistically significant differences in the MG dropout percentage in the upper eyelid of nondry eye patients were obtained from both meibographers. The measurements were similar in patients with dry eye, suggesting that the two instruments can be interchanged.

Polymicrobial Keratitis: Risk Factors, Clinical Characteristics, Bacterial Profile, and Antimicrobial Resistance.

OBJECTIVE: To describe clinical characteristics, complications, and the most prevalent microorganisms causing polymicrobial keratitis and their antibiotic sensitivities. METHODS: A cross-sectional study including a consecutive analysis of patient's records with a diagnosis of bacterial keratitis with a positive culture and antibiogram report were included. Patients were grouped into those having monomicrobial and polymicrobial infection. Features studied included demographic and clinical characteristics, risk factors, Gram stain, cultures, and antibiotic sensitivity. RESULTS: We included 656 patients; in 31.5% more than one microorganism was found. Seven hundred and twenty-three gram-positive bacteria were isolated, and 336 (46.5%) had polymicrobial keratitis. One hundred sixty-one gram-negative bacteria were isolated, and 99 (61.5%) from polymicrobial keratitis. Fourteen (0.60%) patients presented ring infiltrate, and 10 (71.42%) of those patients had polymicrobial keratitis (X2 10.654, P=0.001). Multivariate analysis showed that patients with history of contact lens use (odds ratio [OR] of 1.78, P=0.042), coexistent autoimmune disease (OR 4.64, P=0.03), irregular edges of the infiltrate (OR 2.06, P=0.005), and ring infiltrate (OR 6.034, P=0.005) have a higher risk for developing polymicrobial infection. In the polymicrobial group, gram-positive and gram-negative organisms showed a high sensitivity to Netilmicin. CONCLUSIONS: We found a high incidence of polymicrobial keratitis. Our results suggest that it should be suspected in patients with a history of contact lens use, coexistent autoimmune disease, infiltrates with indistinct edges, and ring infiltrates. Sensitivities to moxifloxacin are lower than those reported in previous studies, but sensitivity to Netilmicin is higher.

Symptoms of ocular surface disease in construction workers: comparative study with office workers.

BACKGROUND: To investigate and contrast the prevalence of dry eye symptoms in construction workers and office workers using the OSDI questionnaire. METHODS: A cross-sectional, observational study was conducted using the OSDI questionnaire to evaluate dry eye symptoms and associated risk factors. Sampled size calculation with a power of 80% and a 95% degree of confidence suggested the inclusion of 298 participants. RESULTS: We studied 304 subjects (149 construction workers and 155 office workers). More than half (55%) of the participants presented dry eye symptoms (OSDI > 12). The average OSDI score was 21.30 ± 22.20 points, being lower in the group of construction workers (12.45 ± 17.50) than in-office workers (28.51 ± 22.99) (p <  0.001). Considering participants who had moderate and severe symptoms (23 to 100 points in OSDI), office workers presented dry eye symptoms 4.15 times more frequently than construction workers (OR 4.15, 95% CI 2.52, 6.85). Women presented statistical evidence of higher OSDI scores than men (32.47 ± 23.72 vs. 14.87 ± 18.48, respectively). CONCLUSIONS: construction workers have four times less risk of presenting dry eye symptoms than people working in the average office space. This highlights the pernicious effects on the ocular surface of the office environment, which poses a significant risk for the development or worsening of dry eye symptoms.

Comparison of meibomian gland loss area measurements between two computer programs and intra-inter-observer agreement.

BACKGROUND: Meibography is a diagnostic test that allows in vivo evaluation of meibomian gland (MG). Nowadays, it is unknown whether the two available computer programs are equivalent to evaluate the glandular loss area. METHODS: This is a prospective, longitudinal, and observational study. A random selection of meibography photographs from healthy patients from the ocular surface clinic at Destellos de Luz foundation is made. The upper eyelid images were taken with the Antares® meibography (CSO, Florence, Italy); they were classified in five sessions with a week of separation between each measurement by an expert observer for each program, Phoenix (MAGL) and ImageJ (LAGB). An analysis of the meibomian gland loss area was performed, calculating it semiautomatically with Phoenix and manually with ImageJ. Intra-observer agreement was assessed through an intra-class correlation coefficient and the mean of standard deviations within subjects. Comparison between the two computational programs MG loss was made trough a nonparametric test. RESULTS: Fifty-four images from x patients (n, 67.3% female) were analyzed. The limits of concordance analysis between the two programs showed a range between - 18.55 and 9.14%. The mean MG loss area through ImageJ by observer 1 was 27.91 ± 14.82% (IC 95% 23.87 to 31.96), and that by observer 2 was 29.05 ± 15.17% (95% CI 24.91 to 33.19). The mean MG loss area through Phoenix by observer 1 was 24.48 ± 13.97% (IC 95% 20.67 to 28.29), and that by observer 2 was 24.93 ± 12.70% (95% CI 21.46, 28.40) CONCLUSIONS: The comparison of the measurement of meibomian gland loss with both programs showed a statistically significant difference. Intra-observer repeatability and inter-observer repeatability were good, with no clinical or statistical difference.

Comparison of cumulative dissipated energy delivered by active-fluidic pressure control phacoemulsification system versus gravity-fluidics.

PURPOSE: To compare the cumulative dissipated energy (CDE), aspiration time and estimated aspiration fluid utilized during phacoemulsification cataract surgery using two phacoemulsification systems . METHODS: A total of 164 consecutive eyes of 164 patients undergoing cataract surgery, 82 in the active-fluidics group and 82 in the gravity-fluidics group were enrolled in this study. Cataracts graded NII to NIII using LOCS II were included. Each subject was randomly assigned to one of the two platforms with a specific configuration: the active-fluidics Centurion ® phacoemulsification system or the gravity-fluidics Infiniti ® Vision System. CDE, aspiration time (AT) and the mean estimated aspiration fluid (EAF) were registered and compared. RESULTS: A mean age of 68.3 ± 9.8 years was found (range 57-92 years), and no significant difference was evident between both groups. A positive correlation between the CDE values obtained by both platforms was verified (r = 0.271, R 2 = 0.073, P = 0.013). Similarly, a significant correlation was evidenced for the EAF (r = 0.334, R 2 = 0.112, P = 0.046) and AT values (r = 0.156, R 2 = 0.024, P = 0.161). A statistically significantly lower CDE count, aspiration time and estimated fluid were obtained using the active-fluidics configuration when compared to the gravity-fluidics configuration by 19.29, 12.10 and 9.29%, respectively (P = 0.001, P < 0.0001 and P = 0.001). CONCLUSIONS: The active-fluidics Centurion ® phacoemulsification system achieved higher surgical efficiency than the gravity-fluidics Infiniti ® IP system for NII and NIII cataracts.

Comparison of biometric measurements obtained by the Verion Image-Guided System versus the auto-refracto-keratometer.

PURPOSE: To compare the biometric measurements obtained from the Verion Image-Guided System to those obtained by auto-refracto-keratometer in normal eyes. METHODS: This is a prospective, observational, comparative study conducted at the Asociación para Evitar la Ceguera en México I.A.P., Mexico. Three sets of keratometry measurements were obtained using the image-guided system to assess the coefficient of variation, the within-subject standard deviation and intraclass correlation coefficient (ICC). A paired Student t test was used to assess statistical significance between the Verion and the auto-refracto-keratometer. A Pearson's correlation coefficient (r) was obtained for all measurements, and the level of agreement was verified using Bland-Altman plots. RESULTS: The right eyes of 73 patients were evaluated by each platform. The Verion coefficient of variation was 0.3% for the flat and steep keratometry, with the ICC being greater than 0.9 for all parameters measured. Paired t test showed statistically significant differences between groups (P = 0.0001). A good correlation was evidenced for keratometry values between platforms (r = 0.903, P = 0.0001 for K1, and r = 0.890, P = 0.0001). Bland-Altman plots showed a wide data spread for all variables. CONCLUSION: The image-guided system provided highly repeatable corneal power and keratometry measurements. However, significant differences were evidenced between the two platforms, and although values were highly correlated, they showed a wide data spread for all analysed variables; therefore, their interchangeable use for biometry assessment is not advisable.

Repeatability of ocular biometry with IOLMaster 700 in subjects with clear lens.

PURPOSE: The purpose of the study was to assess the reproducibility of ocular biometry using the IOLMaster-700 in a healthy population. METHODS: This is a prospective, cross-sectional, observational reproducibility study. Ocular biometry was performed three times on each of 45 studied eyes. Flattest meridian (Kf) and the steepest meridian (Ks), central corneal thickness, axial length, anterior chamber depth, aqueous depth, lens thickness, and white-to-white distances were recorded. Reproducibility was evaluated using the coefficient of variation (CV), the within subject standard deviation, and the intraclass correlation coefficient (ICC). RESULTS: There was a high reproducibility in all parameters; CV was between 0.3 and 1 %, and the ICC was higher than 0.87 in all measurements. CONCLUSIONS: IOLMaster-700 showed high reproducibility for ocular biometry.

Prevalencia de síntomas de enfermedad de la superficie ocular en pacientes que acuden a consulta oftalmológica.

OBJECTIVE: To determine the prevalence of symptoms of ocular surface disease (OSDI) surface disease and its relationship with associated risk factors in patients of ophthalmic practices using OSDI questionnaire. METHOD: A cross-sectional survey was conducted Between September and December 2014 to assess the prevalence and risk factors for OSDI. RESULTS: The OSDI average value was 40.46 ± 23.62 points, with 86.4% of patients (1967) having a OSDI score higher than 12 points. Women had OSDI symptoms more frequently than men (odds ratio: 1.17; 95% confidence interval: 1.08-1.28) and higher OSDI score (42.12 ± 24.03 vs. 38.01 ± 22.81 points). Patients without disease were younger than the patients with severe disease (45.30 ± 18.32 vs. 50.62 ± 18.86). CONCLUSIONS: Ophthalmological patients have a prevalence of 80.4% of OSDI. Female and older age was associated with ocular surface disease.

Corneal endothelial cell analysis using two non-contact specular microscopes in healthy subjects.

To compare specular microscopy values obtained using the Perseus (CSO, Italy) and the Nidek CEM-530 (NIDEK Co., Ltd. Japan) specular microscopes. This prospective study used specular microscopy to examine sixty eyes from thirty healthy subjects (29.83 ± 9.41 years; range 18-79 years). This was done with both the Nidek CEM-530 and the Perseus on three occasions and results were evaluated by one independent observer. Measurement differences between instruments and agreement between devices were determined. The endothelial cell sample was larger with the Perseus than with the CEM-530 (235.92 ± 38.26 vs. 184.38 ± 43.88, respectively) with a statistically significant difference (P = 0.001). Mean endothelial cell density (ECD) with the Perseus and CEM-530 was 2692.75 ± 306.66 and 2556.47 ± 257.38 cells/mm(2) (P = 0.001), respectively; mean coefficient of variation (CV) was 33.43 ± 4.29 and 28.70 ± 3.82 (P = 0.001), respectively, and hexagonality 56.66 ± 6.19 % and 68.50 ± 3.64 (P = 0.001), respectively. The mean of the differences (Perseus minus CEM-530) for ECD was 136.27 ± 106.16 cells/mm(2) (95 % CI 108.85-163.70 cells/mm(2)); 4.73 ± 2.70 % (95 % CI 4.03-5.41) in CV; and -11.83 ± 5.05 for percentage of hexagonal cells. Both instruments showed significant differences in the measurement of all cell forms, predominantly higher values were found with the Perseus vs the CEM-530, except 4-sided cells. Endothelial cell density, coefficient of variation, and percentage of hexagonal cells between the Perseus and CEM-530 differ statistically. This shows that these instruments should not be used interchangeably.

Repeatability and comparability of anterior segment biometry obtained by the Sirius and the Pentacam analyzers.

To assess the repeatability and comparability of six anterior segment biometry parameters obtained with a novel Scheimpflug camera with a Placido disc topographer (Sirius) and slit-scanning tomography with a Scheimpflug camera (Pentacam), in a sample of 16 unoperated eyes of healthy subjects. The anterior segment was analyzed by a single examiner using the Sirius and the Pentacam analyzers. Mean simulated keratometry (Sim K), flat and steep axis keratometry (K f and K s ), central and thinnest corneal thicknesses (CCT and TCT), and anterior chamber depth (ACD) measurements were evaluated. Repeatability of three sets of measurements from each device was assessed using the coefficient of variation (CV), within-subject standard deviation, and intraclass correlation coefficient (ICC). Bonferroni-adjusted t-tests, and Bland and Altman plots were used to establish agreement between devices. For both devices the CV of repeated measurements was <0.79 %. The ICC was >0.95 in all measurements except for Sirius K s (ICC = 0.869). For all parameters evaluated, the Pentacam systematically yielded higher values, although differences were statistically significant in only three parameters-0.31 diopters for K s , 10.1 µm for CCT and 12.4 µm for TCT. In the assessment of normal corneas both devices showed overall high repeatability. Although good agreement was found in three parameters (Sim K, K f and ACD) these devices do not seem to be interchangeable for pachymetric determination.

Multimodal and longitudinal evaluation of novel phenotype-genotype correlation of CLN3 isolated retinal degeneration in an hispanic female with heterozygous mutations c.944dup and c.1305C>G.

BACKGROUND: Inherited retinal disorders (IRDs) are a complex group of heritable diseases which are characterized by rod, cone, retinal pigment epithelium, or optic nerve dysfunction. Recently, mutations in CLN3 have also been associated with isolated IRDs. Herein, a case with heterozygous CLN3 variations that had not been previously linked to a CLN3-isolated retinal degeneration (CLN3IRD) phenotype in a Hispanic female and its multimodal imaging findings across a 10-year follow-up are presented. MATERIAL AND METHODS: An observational, prospective, case report on a hispanic female with CLN3IRD is presented. Patients underwent genetic testing and color fundus photography (CFC) and autofluorescence (FAF), fluorescein angiography (FA), Spectral domain optical coherence tomography (OCT) of the macular area, electroretinogram (ERG) and 30-2 visual field examination through automated perimetry. RESULTS: A female, aged 24, affected by CLN3IRD phenotype from c.944dup and c.1305C>G compound heterozygous variants, presented with bilateral hypopigmentary changes in the macular area of OU with that corresponded to hyporautofluorescent deposits in the macular area on FAF. An atrophic maculopathy was evident on structural OCT, and FA disclosed a symmetrical macular hyperflourescence with staining in the early and late stages in OU. Humphrey visual field testing showed a marked reduction of the central visual field in OU. Electrophysiological testing revealed an ERG with markedly decreased a and b waves in OU. In ten years follow up developed of bone spiculae in the midperipheral retina. CONCLUSIONS: We reported a patient with a novel CLN3IRD severe phenotype associated with the variants c.944dup and c.1305C>G, which had previously only been associated with JCNL.

Conjunctival ultraviolet autofluorescence as a biomarker of outdoor exposure in myopia: a systematic review and meta-analysis.

Outdoor exposure is considered the primary modifiable risk factor in preventing the development of myopia. This effect is thought to be attributed to the light-induced synthesis and release of dopamine in the retina. However, until recent years, there was no objective quantifiable method available to measure the association between time spent outdoors and myopia. It is only recently that the conjunctival ultraviolet autofluorescence (CUVAF) area, serving as a biomarker for sun exposure, has begun to be utilized in numerous studies. To provide a comprehensive summary of the relevant evidence pertaining to the association between the CUVAF area and myopia across different geographic regions and age groups, a systematic review and meta-analysis were conducted. The search encompassed multiple databases, including MEDLINE, SCIENCE DIRECT, GOOGLE SCHOLAR, WEB OF SCIENCE, and SCOPUS, and utilized specific search terms such as "conjunctival ultraviolet autofluorescence", "CUVAF", "UVAF", "objective marker of ocular sun exposure", "myopia", "degenerative myopia", and "high myopia". The bibliographic research included papers published between the years 2006 and 2022. A total of 4051 records were initially identified, and after duplicates were removed, 49 articles underwent full-text review. Nine articles were included in the systematic review. These studies covered myopia and outdoor exposure across different regions (Australia, Europe and India) with a total population of 3615 individuals. They found that myopes generally had smaller CUVAF areas compared to non-myopes. The meta-analysis confirmed this, revealing statistically smaller CUVAF areas in myopic patients, with a mean difference of - 3.30 mm2 (95% CI - 5.53; - 1.06). Additionally, some studies showed a positive correlation between more outdoor exposure and larger CUVAF areas. In terms of outdoor exposure time, myopic patients reported less time outdoors than non-myopic individuals, with a mean difference of - 3.38 h/week (95% CI - 4.66; - 2.09). Overall, these findings highlight the connection between outdoor exposure, CUVAF area and myopia, with regional variations playing a significant role. The results of this meta-analysis validate CUVAF as a quantitative method to objectively measure outdoor exposure in relation with myopia development.

Clinical outcomes of the piggyback secondary implantation of a novel multifocal lens in the ciliary sulcus: A case series.

PURPOSE: Evaluate the clinical outcomes of the secondary piggyback add-on IOL implantation in the ciliary sulcus for pseudophakic patients previously implanted with a monofocal IOL, who pursue a spectacle-free option after IOL surgery. METHODS: A prospective case series including seven pseudophakic patients who underwent an in-the-bag monofocal IOL implantation. All eyes underwent a piggyback IOL implantation of the new sulcus designed A4 AddOn IOL in the ciliary sulcus as a secondary procedure for pseudophakic patients pursuing a spectacle-free option for near and intermediate distance after IOL surgery. RESULTS: Seven eyes from six patients were included in this study, from which 4 (71.43%) were female, with a mean age of 58.33 ± 3.5 years (range 54-63; 95% CI 54.66, 62.01). The postoperative spherical equivalent at the 3-month visit was -0.10 m ± 0.82. Also, the UDVA was 0.11 ± 0.08 logMAR, the UIVA 0.01 ± 0.03, and the UNVA 0.01 ± 0.03 3 months after their surgical procedure. CONCLUSIONS: The A4 AddOn multifocal IOL's secondary piggyback implant is an efficient alternative for monofocal pseudophakic patients seeking presbyopia solutions. This sulcus-designed IOL provides an optimal visual outcome for near and distance vision.

Applications of Infrared Thermography in Ophthalmology.

Body temperature is one of the key vital signs for determining a disease's severity, as it reflects the thermal energy generated by an individual's metabolism. Since the first study on the relationship between body temperature and diseases by Carl Reinhold August Wunderlich at the end of the 19th century, various forms of thermometers have been developed to measure body temperature. Traditionally, methods for measuring temperature can be invasive, semi-invasive, and non-invasive. In recent years, great technological advances have reduced the cost of thermographic cameras, which allowed extending their use. Thermal cameras capture the infrared radiation of the electromagnetic spectrum and process the images to represent the temperature of the object under study through a range of colors, where each color and its hue indicate a previously established temperature. Currently, cameras have a sensitivity that allows them to detect changes in temperature as small as 0.01 °C. Along with its use in other areas of medicine, thermography has been used at the ocular level for more than 50 years. In healthy subjects, the literature reports that the average corneal temperature ranges from 32.9 to 36 °C. One of the possible sources of variability in normal values is age, and other possible sources of variation are gender and external temperature. In addition to the evaluation of healthy subjects, thermography has been used to evaluate its usefulness in various eye diseases, such as Graves' orbitopathy, and tear duct obstruction for orbital diseases. The ocular surface is the most studied area. Ocular surface temperature is influenced by multiple conditions, one of the most studied being dry eye; other diseases studied include allergic conjunctivitis and pterygium as well as systemic diseases such as carotid artery stenosis. Among the corneal diseases studied are keratoconus, infectious keratitis, corneal graft rejection, the use of scleral or soft contact lenses, and the response to refractive or cataract surgery. Other diseases where thermographic features have been reported are glaucoma, diabetic retinopathy, age-related macular degeneration, retinal vascular occlusions, intraocular tumors as well as scleritis, and other inflammatory eye diseases.

Validation of a Semiautomatic Optical Coherence Tomography Digital Image Processing Algorithm for Estimating the Tear Meniscus Height.

Purpose: To design and validate a high-sensitivity semiautomated algorithm, based on adaptive contrast image, able to identify and quantify tear meniscus height (TMH) from optical coherence tomography (OCT) images by using digital image processing (DIP) techniques. Methods: OCT images of the lacrimal meniscus of healthy patients and with dry eye are analyzed by our algorithm, which is composed of two stages: (1) the region of interest and (2) TMH detection and measurement. The algorithm performs an adaptive contrast sequence based on morphologic operations and derivative image intensities. Trueness, repeatability, and reproducibility for TMH measurements are computed and the algorithm performance is statistically compared against the corresponding negative obtained manually by using a commercial software. Results: The algorithm showed excellent repeatability supported by an intraclass correlation coefficient equal to 0.993, a within-subject standard deviation equal to 9.88, and a coefficient of variation equal to 2.96%, and for the reproducibility test, the results did not show a significant difference as the mean value was 244.4 ± 114.9 µm for an expert observer versus 242.4 ± 111.2 µm for the inexperienced observer (P = 0.999). The method strongly suggests the algorithm can predict measurements that are manually performed with commercial software. Conclusions: The presented algorithm possess high potential to identify and measure TMH from OCT images in a reproducible and repeatable way with minimal dependency on user. Translational Relevance: The presented work shows a methodology on how, by using DIP, it is possible to process OCT images to calculate TMH and aid ophthalmologists in the diagnosis of dry eye disease.

Medical treatment of crystalline lens dislocation into the anterior chamber in a patient with Marfan syndrome.

We report the case of a 32-year-old male with spontaneous crystalline lens dislocation into the anterior chamber with corneal touch and increased intraocular pressure. The case was handled in a conservative way: before bringing the patient to supine position, pharmacological pupil dilation with tropicamide plus phenylephrine was performed. One drop was instilled every 15 min for 1 hour. Once the posterior displacement of the lens behind the iris was confirmed, 2 % pilocarpine was used to reverse pupil dilation. The patient remained on topical 2 % pilocarpine and 5 % sodium chloride solution.

Agreement between the Swept-Source Optical Coherence Tomography and the Image-Guided System for Biometry Assessment in Cataract Surgery.

PURPOSE: To assess the agreement on biometric data obtained using the Verion image-guided surgery system and the swept-source-OCT biometer IOL Master 700. MATERIALS AND METHODS: All patients underwent biometry using the SS-OCT and the Image-Guide System. The comparison between instruments was assessed using the Intraclass correlation coefficient (ICC). Level of Agreement (LoA) employing the Bland-Altman analysis. RESULTS: The image-based system produced significantly higher keratometry values, evidencing a low LoA between the SS-OCT and the image-based system, ranging from -1.30 D to 0.65 D (1.95 D), -1.04 D to 0.72 D (1.76 D), and -1.31 D to 0.65 D (1.96 D), respectively. The LoA for the Cylinder ranged from -0.46 D to 0.74 D (1.2 D) and from 0.82 to 0.94 mm for WTW. CONCLUSIONS: In our study, the SS-OCT biometer and the Image-based System evidenced statistically significant differences in measuring the main biometric parameters except for the WTW.

Novel RB1 germline mutation in a healthy man.

BACKGROUND: Retinoblastoma (Rb) most frequently presents as a unilateral sporadic disease up to 40% of cases, however, arise from a monoallelic germline pathogenic variant. Only 10% of the germline mutations are inherited, and high penetrance is seen in up to 90% of these cases. As an effort to optimize counseling and screening, mutations are classified according to inheritance patterns. However, RB1 spectrum is highly heterogeneous, and information for unaffected carriers remains scarce. MATERIALS AND METHODS: The Mexican family of a 5-month-old patient diagnosed with Rb was studied. The family consisted of five individuals (father, mother, and three siblings). Genetic testing using a next-generation sequencing assay targeting RB1 with oligonucleotide baits designed to capture its exons and 20 bases flanking intronic sequences was performed in every family member. Clinical history and a complete ophthalmological examination (best-corrected visual acuity, slit-lamp biomicroscopy, macular optical coherence tomography, fundus autofluorescence, optical coherence tomography angiography, and electrophysiological studies) were performed in members testing positive to RB1 mutation. RESULTS: The father and her five-month-old daughter tested positive for a non-synonymous RB1 mutation c.459del (p.Lys154Serfs*21). The girl presented with bilateral retinoblastoma, successfully treated with cryotherapy and intravenous chemotherapy. The father had no relevant findings on imaging studies or ophthalmologic evaluation. CONCLUSIONS: This report describes a rare case of a novel low-penetrance RB1 germline mutation. Long-term follow-up of the father will include periodic evaluation of the eyes and orbits, and surveillance for systemic sarcoma and secondary malignancies. Implications for unaffected individuals need to be further studied.