VOLUME 88 - ISSUE 3

PURPOSE: To evaluate the presence of congenital hypertrophy of the retinal pigment epithelium in a large family affected by familial adenomatous polyposis and identify the causative mutation in the adenomatous polyposis coli gene. Thus, we aimed to determine the significance of congenital hypertrophy of the retinal pigment epithelium as a phenotypic marker of the disease.
METHODS: A family consisting of 95 individuals was evaluated. Among these, 45 individuals were randomly selected by convenience sampling method to undergo ophthalmological evaluation. A funduscopic exam, including slit lamp and indirect ophthalmoscopy, were performed in the selected patients. In those with retinal lesions, a retinography was obtained. The adenomatous polyposis coli gene was sequenced in one affected family member to identify the pathogenic mutation. Once the variant was identified, six undiagnosed family members were tested for the mutation via capillary electrophoresis sequencing.
RESULTS: Congenital hypertrophy of the retinal pigment epithelium was observed in 13 (28.9%) of the 45 individuals evaluated. Of these, nine patients were confirmed to have familial adenomatous polyposis (via colonoscopy or molecular testing). However, four patients had not been investigated. Of the 32 (71.1%) family members without the lesion, 14 did not have familial adenomatous polyposis and 18 were yet to be evaluated. The lesions were bilaterally present and exhibited a peculiar fish-tail shape in all the evaluated individuals. Adenomatous polyposis coli gene sequencing revealed a pathogenic variant c.4031del. (Ser1344*), in heterozygosity (49.27%), in exon 16.
CONCLUSIONS: The study findings confirmed the significance of congenital hypertrophy of the retinal pigment epithelium as a phenotypic marker for familial adenomatous polyposis. Furthermore, it is an effective first-line screening method for at risk family members of such patients. The novel mutation identified in our study participants, which is yet to be described in the literature, causes an aggressive form of the disease.

Keywords: Retinal diseases/congenital; Retinal pigment epithelium; Hypertrophy/congenital; Adenomatous polyposis coli / genetics; Phenotype; Optical coherence tomography

PURPOSE: To compare objective and subjective intraocular pressure measurements immediately after cataract surgery and intraocular pressure measurements between less experienced surgeons (Group 1) and experienced surgeons (Group 2).
METHODS: Surgeons were asked to estimate the IOP after corneal sealing after surgery based on their tactile perception of eye tension (subjective intraocular pressure) Objective intraocular pressure was measured using a Perkins tonometer while patients were still in the surgical field. Objective intraocular pressure was compared to subjective intraocular pressure. Results from less experienced surgeons were compared to more experienced surgeons.
RESULTS: The study comprised 81 surgeries (81 eyes) performed by 27 surgeons. The mean objective intraocular pressure (9.14 mmHg; SD=5.86) was statistically significantly lower (p<0.001) than the mean subjective intraocular pressure (19.21 mmHg; SD=4.82). Hypotony (intraocular pressure <6mmHg) was observed in 25 eyes (30.86%). The mean subjective intraocular pressure was 18.8 mmHg (SD=5.19) for less experienced surgeons and 19.5 mmHg (SD=4.46) for more experienced, without statistically significant difference (p=0.541). No statistically significant difference (p=0.71) was observed when comparing objective intraocular pressure in Group 1 (10.32 mmHg; SD=6.65) and Group 2 (7.97 mmHg; SD=4.7).
CONCLUSION: Objective intraocular pressure was significantly lower than subjective intraocular pressure, regardless of surgeons' experience. This study showed that the subjective method is unreliable compared to the gold standard (Perkins tonometer) and does not improve with surgeons' experience. Establishing standard training methods is paramount to developing surgeons' skills.

Keywords: Cataract; Intraocular pressure; Hypotony, Tonometry; Eye diseases; Training

PURPOSE: The microbiology pattern of neonatal conjunctivitis has changed over time, and the incidence of gonococcal conjunctivitis is almost nil. This study aimed to determine the etiology of neonatal conjunctivitis cases referred to a tertiary health center in Brazil.
METHODS: From 2017 to 2020, conjunctival swabs were taken from neonates with clinical signs of conjunctivitis and tested with bacterial culture and polymerase chain reaction for Neisseria gonorrhoeae and Chlamydia trachomatis.
RESULTS: A total of 51 neonates were included in the 3-year study. Chlamydial conjunctivitis was diagnosed in 39 (76.5%) patients, and microbial growth was detected in 13 (25.5%) patients. The most isolated bacterium was Staphylococcus epidermidis (n=6, 11.8%), followed by other coagulase-negative Staphylococcus species (n=4, 7.8%) and S. aureus (n=2, 3.9%). One S. aureus isolate was resistant to oxacillin. There were no cases of gonococcal conjunctivitis. Ten (19.6%) patients showed polymerase chain reaction-negative C. trachomatis and negative bacterial culture test results.
CONCLUSION: Findings show that C. trachomatis is the most common pathogen causing neonatal conjunctivitis. The high prevalence of C. trachomatis infection highlights the importance of screening and treating pregnant woman.

Keywords: Conjunctivitis; Infant, newborn, diseases; Ophthalmia neonatorum; Chlamydia infections; Sexually transmitted diseases

PURPOSE: Keratoconus presents certain peculiarities in pediatric patients when compared with adults. The greatest challenge in children is that the disease is more severe and faster in progression. In this retrospective study, we aimed to compare the accelerated and Dresden protocols for corneal crosslinking in patients aged <18 years who were followed-up for at least 12 months.
METHODS: A total of 36 eyes from 27 patients were included in the study. The best corrected and uncorrected visual acuity, maximal keratometry, corneal thickness, foveal thickness, and endothelial microscopy findings were evaluated at baseline and during the postoperative period at one, three, and six months. Thereafter, the patients were evaluated at one, three, six and twelve months postoperative. Corneal crosslinking was performed in all patients via the Dresden protocol (n=21 eyes) or the accelerated protocol (n=15 eyes). Data between the two groups were compared and XY statistical analysis was used.
RESULTS: Both protocols were effective in halting keratoconus progression. No patient had progression at the 12-month follow-up. A significant reduction in Kmax and improvement in the corrected distance visual acuity were observed only in the Dresden protocol group. Although the Dresden protocol was superior to the accelerated protocol in reducing Kmax (p=0.002), there was no significant difference in corrected distance visual acuity between the two groups.
CONCLUSION: The accelerated protocol is as efficient as the Dresden protocol in stabilizing keratoconus progression. Although the Dresden protocol was superior to the accelerated protocol in reducing the Kmax, it did not produce better clinical results. Thus, the accelerated protocol is an efficient option. Furthermore, considering the advantages of reduced surgical time, the accelerated protocol is effective in halting keratoconus progression in the pediatric age group.

Keywords: Keratoconus; Corneal diseases; Ultraviolet rays; Cross-linking reagents; Visual acuity

PURPOSE: To determine the impact of prophylactic intracameral cefuroxime administration on the post-cataract surgery endophthalmitis rates and analyze its safety.
METHODS: The incidence of post-phacoemulsification endophthalmitis before and after the introduction of antibiotic prophylaxis with cefuroxime was compared. Data were extracted from the electronic medical records of patients who underwent cataract surgery between July 2019 and July 2022 at a tertiary-care hospital. Data were also collected from the Hospital Infection Control Service database. Statistical analysis was performed to assess the efficacy of cefuroxime prophylaxis in reducing endophthalmitis rates.
RESULTS: Of the 4459 cataract surgeries included in the study, 2247 were included in the control group (pre-cefuroxime), and 2212 were included in the post-cefuroxime (ATB-P) Group. In the control group, 6 (0.13%) cases of endophthalmitis were reported. In the ATB-P Group, there were no cases of acute endophthalmitis. The frequency of endophthalmitis was significantly higher in the control group than in the ATB-P Group (p=0.016). Furthermore, Staphylococcus sp. was the most identified causative agent (75%). No adverse effects were reported after cefuroxime administration.
CONCLUSION: The introduction of intracameral prophylaxis with cefuroxime significantly reduced the incidence of post-cataract surgery endophthalmitis. Additionally, its administration is safe.

Keywords: Cataract extraction; Endophthalmitis; Antibiotic prophylaxis; Injections; Cefuroxime

PURPOSE: This study aimed to evaluate the total macular thickness as well as the thickness of the inner and outer retinal layers in patients with Parkinson's disease. It also aimed to verify the correlation of these parameters with motor symptoms and cognitive function.
METHODS: A total of 46 eyes of 23 patients with Parkinson's disease and 40 eyes of 20 healthy controls were included in the study. The patients' cognitive, functional, and nonmotor symptoms were evaluated using the Katz Index of Independence and Pfeffer's Activities of Daily Living, Mini-Mental State Examination, Frontal Assessment Battery, Schwab and England Staging Scales, and Movement Disorders Society Nonmotor Symptoms Scale. The macular thickness measurements obtained via total, inner, and outer optical coherence tomography were recorded. Furthermore, the correlation of the parameters of optical coherence tomography with cognitive, functional, and nonmotor symptoms was assessed.
RESULTS: The scores of the Katz Index of Independence and Pfeffer's Activities of Daily Living as well as the Movement Disorders Society Nonmotor Symptoms Scale were significantly lower in patients with Parkinson's disease than in healthy controls. Moreover, the former had greater total macular thickness. The temporal and inferior outer sectors were significantly greater for the ganglion cell complex thickness in patients. A significant correlation was observed between the total macular thickness and the Movement Disorder Society-Unified Parkinson's Disease Rating Scale, Parte III (MDS-UPDRS-III) values. Contrarily, there was a negative correlation between the outer macular thickness and the MDS-UPDRS-III values. Meanwhile, the total macular thickness and ganglion cell complex thickness were significantly correlated with the scores of the Mini-Mental State Examination, Schwab and England Staging Scale, Frontal Assessment Battery, and Katz Index of Independence and Pfeffer's Activities of Daily Living. In addition, the Schwab and England scale was correlated with the outer macular thickness.
CONCLUSION: The total and inner macular thicknesses at the temporal and inferior outer sectors were greater in patients with Parkinson's disease than in the control group. These findings indicate that macular thickness may be greater in those with Parkinson's disease, particularly when associated with mild motor symptoms. In addition, the parameters of the total, inner, and outer optical coherence tomography were significantly associated with motor and nonmotor symptoms as well as cognitive function impairment.

Keywords: Parkinson's disease; Tomography, optical coherence; Neurodegenerative diseases; Cognitive dysfunction; Cognition; Motor perception; Visual acuity; Retina

PURPOSE: This study aimed to characterize retinitis pigmentosa associated with the eyes shut homolog gene, which causes hereditary retinal degeneration.
METHODS: The anatomical and functional findings of retinitis pigmentosa in patients with variants of the eyes shut homolog gene were characterized and compared using multimodal imaging and genetic analysis of the variants. Clinical data such as visual acuity, lens status, and refraction were obtained from medical records. Patients underwent an ophthalmic examination, including static visual field, microperimetry, optical coherence tomography, fundus autofluorescence, and fundus photography.
RESULTS: Twenty-two patients were included in the study. Several anatomical and functional characteristics of retinitis pigmentosa-eyes shut homolog were identified, including the presence of cataracts, cystoid macular edema, epiretinal membrane, and a tubular visual field. Genetic results revealed 26 distinct variants in the cohort, with 7 novel variants not previously documented or reported in the scientific literature or databases.
CONCLUSION: The findings demonstrate that eyes shut homolog-retinitis pigmentosa manifests in specific patterns, starting in adolescence with mild progression and advancing with age. The integration of multimodal imaging and genetic analysis has provided a detailed understanding of the anatomical and functional features of retinitis pigmentosa-eyes shut homolog. Seven novel variants of the eyes shut homolog gene have been identified. These findings enhance the understanding of eyes shut homolog-related retinitis pigmentosa characteristics of by detailing the spectrum of mutations in this gene within the Brazilian population.

Keywords: Retinal diseases/diagnostic imaging; Retinitis pigmentosa/genetics; Retinal degeneration; Eye proteins/genetics; Eye diseases, hereditary/genetics; Genes, recessive; Phenotype; Multimodal imaging; Tomography, optical coherence/methods; Fluorescein angiogr

PURPOSE: To describe the ophthalmological findings of dry eye disease and its relation to the quality of life of COVID-19 survivors.
METHODS: COVID-19 survivors who had previously been hospitalized at Hospital das Clínicas de Ribeirão Preto complex underwent an ophthalmological evaluation, which included a dry eye disease questionnaire, break-up time, fluorescein staining, and Schirmer test. We collected the presenting and best-corrected visual acuity, sociodemographic data, personal medical history, and scores from a self-reported quality of life questionnaire (WHOQOL-bref). According to the severity of the acute phase of the disease, the patients were classified into mild-to-moderate, severe, and critical groups.
RESULTS: Ninety-five patients (190 eyes) were evaluated 100 ± 44 days after the onset of COVID-19 symptoms. Of these, 83 patients (87.3%) completed the WHOQOL-bref questionnaire. Ten patients (12.0%) had mild-to-moderate COVID-19, 41 (49.4%) had severe COVID-19, and 32 (38.6%) had critical COVID-19. The median best-corrected visual acuity was logMAR 0 (0-1). Approximately 26.3% patients had a history of dry eye disease or severe dry eye symptoms (frequent or constant ocular dryness and irritation). There was an association between the proportion of patients with dry eye disease and the quality of life (p=0.014) and health (p=0.001). Furthermore, there was a significant trend between the proportion of patients with dry eye disease and how they rated their health and quality of life (p=0.0004 and 0.0027, respectively.
CONCLUSIONS: There is a significant negative correlation between the proportion of patients with dry eye disease and their self-reported quality of life.

Keywords: COVID-19; Coronavirus infections; SARS-CoV-2; Eye diseases; Epidemiology; Ocular surface; Public health

PURPOSE: To evaluate the current scenario of rehabilitation services for people with retinal diseases in Brazil.
METHODS: An exploratory study was conducted between February 2023 and June 2023 using a Google Forms questionnaire that was distributed by patient associations.
RESULTS: A total of 142 patients, aged 18-80 were included in the study. Forty-eight participants (33.8%) were undergoing rehabilitation, while 94 (66.2%) were not. The main reason for not undergoing rehabilitation was a lack of knowledge about the service (n=41, 43.6%). Healthcare professionals made the most referrals (n=20, 41.7%). Rehabilitation improved the quality of life in 38 (80.9%) participants, and 28 (62.2%) participants were satisfied with the process. There was a statistically significant disparity between patient satisfaction and the locale of rehabilitation implementation. Twenty-three (69.7%) participants who underwent rehabilitation at a specialized center reported satisfaction.
CONCLUSION: The rehabilitation process directly increases the quality of life of individuals with retinal diseases. However, despite the availability of rehabilitation centers in large parts of Brazil, most patients with retinal diseases are not acquainted with the rehabilitation process and do not receive referrals for it. Thus, healthcare providers should increase referrals to rehabilitation centers, and public policies should be formulated to raise awareness among the population regarding the availability of rehabilitation services.

Keywords: Rehabilitation; Quality of life; Retinal diseases; Personal satisfaction; Patient care team; Public policy; Surveys and questionnaires; Brazil