Reduced cone photoreceptor function and subtle systemic manifestations in two siblings with loss of SCLT1.

BACKGROUND: The sodium channel and clathrin linker 1 gene (SCLT1) has been involved in the pathogenesis of various ciliopathy disorders such as Bardet-Biedl syndrome, orofaciodigital syndrome type IX, and Senior-Løken syndrome. Detailed exams are warranted to outline all clinical features. Here, we present a family with a milder phenotype of SCLT1-related disease. MATERIAL AND METHODS: Comprehensive eye examination including fundus images, OCT, color vision, visual fields and electroretinography were performed. Affected individuals were assessed by a pediatrician and a medical geneticist for systemic features of ciliopathy. Investigations included echocardiography, abdominal ultrasonography, blood work-up for diabetes, liver and kidney function. Genetic testing included NGS retinal dystrophy panel, segregation analysis and transcriptome sequencing. RESULTS: Two male children, age 10 and 8 years, were affected with attention deficit hyperactivity disorder (ADHD), obesity and mild photophobia. The ophthalmic exam revealed reduced best-corrected visual acuity (BCVA), strabismus, hyperopia, astigmatism and moderate red-green defects. Milder changes suggesting photoreceptors disease were found on retinal imaging. Electroretinogram confirmed cone photoreceptors dysfunction. Genetic testing revealed a homozygous likely pathogenic, splice-site variant in SCLT1 gene NM_144643.3: c.1439 + 1del in the proband and in the affected brother. The unaffected parents were heterozygous for the SCLT1 variant. Transcriptome sequencing showed retention of intron 16 in the proband. CONCLUSIONS: In this report, we highlight the importance of further extensive diagnostics in patients with unexplained reduced vision, strabismus, refractive errors and ADHD spectrum disorders. SCLT1-related retinal degeneration is very rare and isolated reduced function of cone photoreceptors has not previously been observed.

iCare® Home vs Goldmann applanation tonometry: Agreement of methods and comparison of inter-observer variation at a tertiary eye centre.

Purpose: To investigate whether the inter-observer variation is similar between the Goldmann applanation tonometer used by healthcare staff and the iCare® Home tonometer used by glaucoma patients, volunteers and healthcare staff. Methods: Sixty-one participants were recruited to the study, including 24 glaucoma patients. Seven participants were excluded. For each participant, intraocular pressure (IOP) was measured on the same occasion by two different healthcare staff using GAT as well as by a healthcare staff and the participant using the iCare® Home tonometer. Results: Seventy-two per cent of iCare® measurements were within 3 mmHg of the GAT measurements. There was a statistically significant difference between the trainers' measurements made with iCare® Home and those made with GAT (p < 0.001), as well as between the GAT measurements made by trainers and those made by extra personnel (p = 0.017). The strongest correlation was between iCare® Home participants' and trainers' measurements (0.934). The correlation between different users with GAT was lower (0.769). The inter-user agreement was excellent for iCare® Home users (95% CI 0.93, ranging from 0.880 to 0.959) and moderate for GAT users (95% CI 0.741, ranging from 0.558 to 0.849). Conclusion: Our study found that tonometry with iCare® Home has similar or less inter-user variation compared with GAT.

Impact of self-tonometry on glaucoma treatment decision.

PURPOSE: The aim of this study was to examine the impact of self-tonometry on clinicians' decision in glaucoma treatment. MATERIALS AND METHODS: Medical records of 133 patients who had performed self-tonometry using iCare® Home between January and December 2019 were retrospectively reviewed. Inclusion criteria were as follows: age over 18 years, all types of glaucoma, as well as ocular hypertension and glaucoma suspect, compliance with tonometer manufacturer's recommendations and monitoring over at least 2 days. The data consisted of age, gender, diagnosis, visual field index, rate of progression and type of treatment pre- and post-intraocular pressure (IOP) phasing. The following IOP measurements were used to calculate the mean and maximum IOP, and range over each day and consecutive days: Goldmann applanation tonometry (GAT) measurements from referral and training visits and iCare® Home measurements made by the trainers and the patients themselves. A total of 90 patients were included. RESULTS: Clinicians were satisfied with the actual treatment in 54.4% of the cases. There was a statistically significant difference between the clinicians' decision to maintain same treatment or to escalate therapy for all the mean and maximum IOPs measured on each single day and over a 2- or 3-day period (p < 0.002). CONCLUSION: Our results suggest that the presence of high IOP values obtained with self-tonometry supports an intensification of glaucoma treatment. Self-tonometry provides clinicians with an important complement for clinical decision-making, and under- or over-treatment may be avoided for the benefit of patients.

Comparison between 90-degree and 360-degree selective laser trabeculoplasty (SLT): A 2-year follow-up.

PURPOSE: To compare the effect of 90- and 360-degree selective laser trabeculoplasty (SLT) as primary or supplement therapy in patients with glaucoma and ocular hypertension (OHT). METHODS: Patients (>30 years old) with OHT, primary open-angle glaucoma (OAG), pigmentary glaucoma or pseudoexfoliative glaucoma were enrolled in a prospective randomized clinical trial. Patients were sequentially randomized to either 90- or 360-degree SLT. Their intraocular pressure (IOP) was monitored. RESULTS: The survival periods (in days) of the two extents (90 or 360 degrees) of treatment were not statistically significantly different (p = 0.85); only pretreatment IOP level could predict survival of treatment (p = 0.02). CONCLUSION: The 90-degree SLT is as effective as 360-degree SLT. Further studies are warranted to confirm the findings. High baseline IOP could be a factor that predicts treatment success.

Monitoring daily intraocular pressure fluctuations with self-tonometry in healthy subjects.

PURPOSE: To evaluate the accuracy of the intraocular pressure (IOP) measured by healthy subjects with icare® Home and to observe the IOP fluctuation and pattern of IOP fluctuation in healthy subjects over three consecutive days. METHODS: Sixty healthy subjects were recruited to the study. IOP was measured by the subjects themselves and by study staff using icare® Home tonometers on visits 1 and 2, as well as by study staff using Goldmann applanation tonometry (GAT). Furthermore, the subjects measured their IOP at home for three consecutive days. RESULTS: Twenty-three per cent of the study eyes were excluded in the statistical analysis due to dropout or non-compliance to the schedule. Approximately 70% of the icare® Home measurements were within 3 mmHg of the GAT measurements. Ten to 16% of the study eyes had IOP peaks outside office hours. Sixty-three per cent of the study eyes had different IOP patterns on consecutive days. CONCLUSION: Rebound self-tonometry appears to be accurate and could be used to monitor short- and long-term IOP variations. The difference between IOP patterns on consecutive days raises questions as to the certainty of a single IOP measurement as a measure of treatment effect.

Self-tonometry as a complement in the investigation of glaucoma patients.

PURPOSE: To evaluate the reliability of intraocular pressure measured by patients with glaucoma themselves using a new hand-held tonometer and to observe whether the intraocular pressure (IOP) variations have the same pattern on different days while glaucoma treatment is constant. METHODS: Eighty-seven patients diagnosed with open-angle glaucoma or ocular hypertension were recruited to the study. Intraocular pressure measured using Goldmann applanation tonometry (GAT) was compared with IOP measured using tonometry at baseline and on the second visit. Patients measured their IOP at home using the hand-held tonometers. RESULTS: The mean difference between GAT and iCare® values varies from 0 to 1 mmHg. Seventy-eight per cent of iCare® measurements were within 3 mmHg of the GAT measurements. Approximately 64% of the study eyes had higher IOP in the morning than in the afternoon/evening. Circadian patterns differed between consecutive days in 47% of the study eyes. There were IOP peaks outside office hours in up to 16% of the study eyes. CONCLUSION: Measurements made using rebound self-tonometry are accurate and could be used to complement the investigation of patients with glaucoma. Intraocular pressure curves provide valuable data usable when adapting glaucoma treatment.