A Novel Homozygous ACBD5 Variant in an Emerging Peroxisomal Disorder Presenting with Retinal Dystrophy and a Review of the Literature.

Introduction: Acyl-CoA binding domain containing 5 (ACBD5) deficiency is a newly defined inborn peroxisomal disorder with only 7 patients reported to date. Herein, we report a patient with ACBD5 deficiency who was diagnosed after a complicated diagnostic process. Case Presentation: A 6-year-old male patient was admitted with complaints of neuromotor regression and visual disturbances. He had spastic paraparesis dominated with axial hypotonic posturing and horizontal nystagmus. His very-long-chain fatty acid levels were within normal ranges with a slightly elevated C26:0/C22:0 ratio. Brain magnetic resonance imaging revealed white matter involvement. Clinical exome sequencing displayed a novel homozygous intronic splice site variant (c.936 + 2T>G) in the ACBD5 (NM_145698.5) gene. Conclusion: With this report, a novel variant in ACBD5 deficiency was described. Macular dystrophy was demonstrated with optical coherence tomography imaging for the first time in the literature in ACBD5 deficiency. In order to contribute to the knowledge about the clinical, biochemical, and genetic spectrum of ACBD5 deficiency, new patients need to be defined.

A unique complication of thyroidectomy for Hashimoto's thyroiditis: central retinal artery thrombosis.

BACKGROUND: Central retinal artery occlusion (CRAO) is a rare ophthalmological emergency and also a unique complication after thyroid surgery. METHODS: We present the first case of CRAO following thyroid surgery in a patient with Hashimoto's thyroiditis, along with a variety of interventions to overcome this complication. RESULTS: A 42-year-old female patient suffering from sudden vision loss following total thyroidectomy was diagnosed with CRAO. Hyperbaric oxygen therapy was started within the postoperative first 6 hours. CONCLUSION: Although it is extremely rare, it should be noted that patients may experience retinal artery occlusion following the thyroid surgery. Immediate evaluation of patients with visual impairment in the early postoperative period, and planning of emergent hyperbaric oxygen therapy for the management are critical.

OCT and OCTA evaluation of vascular and morphological structures in the retina in recovered pediatric patients with COVID-19.

BACKGROUND: Using OCT and OCTA imaging, we aimed to determine whether COVID-19 induces pathological changes in vascular and morphological structures in the pediatric retina. METHODS: The current prospective, cross-sectional, observational clinical study included recovered pediatric patients with COVID-19 evaluated between May 2020 and June 2020. Retinal vascular (radial peripapillary, superficial, and deep capillary plexus vessel densities) and morphological (peripapillary retinal nerve fiber, ganglion cell layer, retinal, and choroidal thickness) in the optic disk and macula regions were quantitively assessed using OCT and OCTA. Data were compared between COVID-19 patients and age-matched controls. RESULTS: The COVID-19 group included 32 eyes of 16 patients and the control group included 32 eyes of 16 cases. Fundus and biomicroscopic examinations revealed no signs of pathology in the COVID-19 group. Mean peripapillary retinal nerve fiber, ganglion cell layer, and choroidal thickness values were significantly greater in the COVID-19 group than in the control group (p<0.05). OCTA indicated that mean superficial and deep capillary plexus vessel densities, and choriocapillaris flow area values were significantly lower in the COVID-19 group than in the control group, whereas mean radial peripapillary capillary plexus vessel density values were significantly higher (p<0.05). CONCLUSIONS: Even if fundus examination results appear normal in pediatric patients with COVID-19, vascular and morphological changes may be observed in the retina. Further studies with larger numbers of patients are needed to elucidate the clinical significance of vascular and morphological changes in this population.

Evaluation of the Effect of Different Treatment Management on Refractive Outcomes in Severe Retinopathy of Prematurity.

Objectives: The purpose of the study was to evaluate the effect of different treatment modalities on refractive outcomes in patients treated with severe retinopathy of prematurity (ROP). Methods: The records of children who were treated for severe ROP in our clinic between January 2015 and August 2018 were retrospectively reviewed. The children who were treated were analyzed in three subgroups as intravitreal bevacizumab (IVB), laser photocoagulation (LPC), and IVB + LPC. Spherical equivalent (SEQ), spherical and cylindrical power measurements of the cases were recorded in diopters (D). SE ≤-0.25D was accepted as myopia and SE of more than 1 D between two eyes was accepted as anisometropia. Results: A total of 160 eyes of 80 participants were eligible for inclusion: 38 eyes in the IVB group, 24 eyes in the LPC group, 16 eyes in the IVB + LPC group, 44 eyes in the spontaneously regressed group, and 38 eyes in the full-term children. Although the mean spherical power and SEQ in the IVB group were lower than in the LPC group (p=0.019 and 0.013, respectively), there was no significant difference between the IVB group and the IVB + LPC group (p=0.541 and 0.804, respectively). In terms of mean cylindrical power and prevalence of myopia and anisometropia, there was no significant difference between the treatment groups (p>0.05). Conclusion: Although spherical power and SEQ can change according to the ROP treatment management, there is no difference in terms of the cylindrical power, prevalence of myopia, and anisometropia. The most important risk factor for myopia and anisometropia in premature children may be ROP severity and retinal immaturity.

Neuromotor Development Evaluation of Preterm Babies Less than 34 Weeks of Gestation with Bayley III at 18-24 Months.

OBJECTIVES: To assess and evaluate the risk factors affecting the neuromotor development of preterm babies at corrected age 18 to 24 months. METHODS: Preterm babies ≤ 34 weeks of gestational age (GA) who were born in our hospital between 2011 and 2014 were prospectively included in the study. Prenatal, perinatal, and postnatal features of the babies were recorded. Bayley Scales of Infants and Toddler Development, Third Edition (Bayley-III), was applied at corrected age 18 to 24 months. RESULTS: All data of 96 babies were obtained during the study, mean birth weight was 1542 ± 518 g, and mean corrected age was 20.9 ± 4.7 months. Cerebral palsy was found in 11 babies (11.5%). According to Bayley III scores, 13.5% cognitive delay, 19.8% language delay, and 33.3% motor delay rations were detected. A positive correlation was found between GA and motor composite scores (p = 0.011). The mean motor composite score was lower in babies with the Apgar score less than 7 at 1st and 5th minutes (p = 0.007 and p = 0.003) and applied resuscitation in the delivery room (p = 0.033). The mean language composite score was found to be higher in babies with antenatal steroid administration (p = 0.003). A negative correlation was found between the motor composite score and the oxygen treatment time and mechanical ventilation support time (p = 0.001 and p = 0.007). CONCLUSION: In preterm babies less than 34 weeks, the birth weight, GA, Apgar score, oxygen treatment time, mechanical ventilation support time, and resuscitation in a delivery room were determined to affect the Bayley III motor score. Language development was found better in babies with antenatal steroid administration.

Optical coherence tomography angiography of central serous chorioretinopathy patients' response to breath-holding manoeuvre.

PURPOSE: To demonstrate through the use of optical coherence tomography angiography (OCTA) that normal vasoreactivity cannot be monitored in central serous chorioretinopathy (CSR) patients in the presence of vasoactive stimuli owing to hypoxia caused by the breath-holding manoeuvre (BHM). METHODS: This cross-sectional study included a total of 210 eyes, including 70 CSR patients (70 symptomatic eyes, 70 asymptomatic eyes) and 70 control group. Images of the macula (3 × 3 mm) and the optic disc (4.5 × 4.5 mm) were obtained at the baseline and after BHM using OCTA. The change in vascular parameters in the OCTA after BHM was evaluated in CSR patients and the control group. RESULTS: In the symptomatic eyes of CSR patients, the mean whole image vessel density (VD) in the superficial capillary plexus decreased from 48.0 ± 3.5% under baseline conditions to 46.0 ± 4.5% after BHM (p < 0.01), and the mean whole VD in the deep capillary plexus decreased from 47.9 ± 8.0% under baseline conditions to 46.9 ± 6.7% after BHM (p < 0.01). The OCTA after BHM revealed a decrease in the mean whole image VD of the optic disc in both symptomatic (50.4 ± 2.1% to 49.6 ± 2.0%, p < 0.05) and asymptomatic (50.9 ± 1.8% to 50.4 ± 1.9%, p < 0.05) eyes of CSR patients. No difference for any mean VD of the control group was seen between the baseline and after BHM. Outer retinal flow areas increased significantly after BHM compared with the baseline in both eyes of CSR patients. CONCLUSION: These results suggest that CSR pathogenesis is related to an imbalance in local vascular regulation and the sympathetic activity of the autonomic nervous system. This technique constitutes a new way of studying retinal vascular changes and may be applied to CSR patients.

Effect of Prematurity on Foveal Development in Early School-Age Children.

PURPOSE: To evaluate the foveal development in preterm children with optical coherence tomography and OCT angiography. DESIGN: Retrospective cohort study. METHODS: This study included children aged 6-8 years who were born prematurely and who did not receive retinopathy treatment. They were evaluated between September 2018 and July 2019, categorized according to gestational age (GA) (group I: GA ≤30 weeks; group II: GA between 31 and 34 weeks), and compared with full-term children (group III). Central foveal thickness (CFT), inner retinal thickness (IRT), outer retinal thickness (ORT), subfoveal choroidal thickness (CT), temporal and nasal CT, foveal avascular zone (FAZ) diameter, and vessel densities of superficial (SCP-VD) and deep capillary plexuses (DCP-VD) of the foveal and parafoveal areas were examined in detail. RESULTS: The study included 126 eyes of 63 patients (group I: 40 eyes; group II: 46 eyes; and group III: 40 eyes). In group I, CFT, IRT, ORT, foveal SCP-VD, and foveal DCP-VD were significantly greater than those in the other groups, and temporal CT and FAZ diameter were significantly lower (P < .05). GA showed a significant negative correlation with CFT, IRT, ORT, foveal SCP-VD, and foveal DCP-VD and a significant positive correlation with subfoveal CT, temporal and nasal CT, and FAZ diameter (P < .05). CONCLUSION: The morphological and vascular foveal structures in early school-age children who were born premature were different from those of full-term children. These differences were correlated with GA and more pronounced in those with GA of ≤30 weeks.

Optical coherence tomography and optical coherence tomography angiography imaging in Bietti crystalline dystrophy.

Background: Bietti crystalline dystrophy (BCD) is a rare autosomal recessive disorder due to genetic defect in the CYP4V2 gene. BCD is a disease characterized by shiny yellow crystalline deposits in the retina with progressive atrophy of the retinal pigment epithelium and choriocapillaris. Our aim is to present ocular imaging findings of a patient with BCD.Materials and Metods: A 38-year-old female patient with BCD was evaluated and the findings of optical coherence tomography (OCT) and optical coherence tomography angiography (OCTA) were examined.Results: OCT imaging revealed multiple outer retinal tubulations (ORTs) with a few hyperreflective crystalline deposits. OCTA imaging showed that the vessel density of superficial anddeep capillary plexus and choriocapillaris blood flow were significantly decreased. ORTs were composedof multiple microtubules as finger-like protrusions that joined the macrotubules.Conclusion: In BCD, crystallinedeposits, ORTs and retinal vascular morphology can be shown in detail using OCT and OCTA.

Retinopathy screening results of late-preterm infants born at 32-35 weeks of gestational age.

PURPOSE: The aim of this retrospective, nonrandomized, observational clinical study was to evaluate the screening results for retinopathy of prematurity (ROP) of late-preterm infants born at 32-35 weeks gestational age (GA). METHODS: Retinopathy screening data of late-preterm infants were evaluated between January 2015 and September 2018. The zones and stages of ROP development were classified according to the International ROP Committee criteria. Patients were categorized into four groups according to GA: 32 < 33 weeks GA, 33 < 34 weeks GA, 34 < 35 weeks GA, and 35 < 36 weeks GA. The rates of development of any stage of ROP or severe ROP (requiring treatment) were recorded. RESULTS: The study included 543 infants: 139 (25.4%) in 32 < 33 weeks GA, 127 (23.6%) in 33 < 34 weeks GA, 162 (30.2%) in 34 < 35 weeks GA, and 115 (20.8%) in 35 < 36 weeks GA. Different stages of ROP developed in 29 infants (20.9%) in 32 < 33 weeks GA, 19 infants (15%) in 33 < 34 weeks GA, 17 infants (10.5%) in 34 < 35 weeks GA, and 6 infants (5.2%) in 35 < 36 weeks GA. Treatment was required for 14 infants (2.6%) due to severe ROP: 7 (5%) in 32 < 33 weeks GA, 3 (2.4%) in 33 < 34 weeks GA, and 4 (2.5%) in 34 < 35 weeks GA. No treatment was required in 35 < 36 weeks GA. CONCLUSION: Late-preterm infants must be screened for ROP, especially those born in developing countries. Although rates of ROP development decrease as GA increases, infants born at 34 weeks of GA or younger, regardless of birth weight, should be examined at least once for ROP.

Comparison of Pattern Electroretinography and Optical Coherence Tomography Parameters in Patients with Primary Open-Angle Glaucoma and Ocular Hypertension.

OBJECTIVES: To investigate the correlation of visual field (VF), pattern electroretinography (PERG) and Fourier domain optical coherence tomography (FD-OCT) results in patients with ocular hypertension (OHT) and early primary open-angle glaucoma (POAG). MATERIALS AND METHODS: The study included 72 eyes of 37 patients with early POAG, 76 eyes of 38 patients with OHT, and 60 eyes of 30 controls. All subjects underwent full ophthalmologic examination, VF assessment with 24-2 Humphrey standard automated perimetry (Swedish Interactive Thresholding Algorithm (SITA)-Standard), retinal nerve fiber layer (RNFL) and ganglion cell complex (GCC) thickness measurement with FD-OCT, and PERG P50 and N95 wave latency and amplitude measurements with electroretinography (Nihon Kohden). RESULTS: With the exception of the nasal quadrant, all GCC parameters and RNFL results were significantly lower in the POAG group compared to the OHT and control groups. There was no statistically significant difference between the OHT and control group. PERG amplitudes were lower in the POAG and OHT groups than in the control group. Reduction in N95 amplitude was greater than that of P50 amplitude. No difference was detected in PERG latencies among groups. GCC was significantly correlated with VF and RNFL in the POAG group. CONCLUSION: Significant thinning of the GCC and RNFL occurs in addition to VF pathologies in patients with early POAG, and these examinations should be concomitantly evaluated. During diagnostic assessment of patients with early POAG, GCC and RNFL analysis by FD-OCT are highly effective. GCC is as reliable as RNLF in the early diagnosis of glaucoma and there is a highly significant correlation between them. Dysfunction of ganglion cells in patients with OHT may be detected earlier using PERG amplitude analysis.