Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.

INTRODUCTION: Biotinidase deficiency (BD) is an inherited autosomal recessive metabolic disorder. BD has been associated with optic nerve atrophy, eye infections, and retinopathy. The most prevalent ophthalmic manifestation of BD is optic atrophy, which might be misdiagnosed as multiple sclerosis or neuromyelitis optica, especially in late-onset BD cases. METHODS: In this article, we report a 9-year-old boy with gradual vision loss. Ophthalmologic examination, Brain MRI, and several laboratory tests such as Aquaporin-4 IgG level and biotinidase level were done on the patient. RESULTS: Bilateral optic atrophy and impaired visual acuity were detected on examination. The patient had a biotin level of 1.25 U/min/ml (normal range 3-9 U/min/ml), favoring the BD. CONCLUSION: In this study, we report a 9-year-old boy with vision loss diagnosed with BD. We also reviewed the literature to highlight the ophthalmic manifestations of BD. Ophthalmologists must consider BD in children with unexplained ophthalmologic complaints, especially when other characteristic signs of BD (e.g., developmental delay, seizure) are present. Also, patients with BD should undergo regular annual ophthalmologic examinations to be checked for any signs of eye involvement.

Congenital simple hamartoma of the retinal pigment epithelium: 4 cases with multimodal imaging.

BACKGROUND: Congenital simple hamartoma of the retinal pigment epithelium is often identified as an incidental finding. One important issue is the differentiation of these benign lesions from other lesions which could be potentially sight-threatening. METHODS: This study describes 4 cases of congenital simple hamartoma of the retinal pigment epithelium that were referred to a university-based hospital. Multimodal imaging including fundus photo, multicolor fundus photo, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, fluorescein angiography and multifocal electroretinogram is provided. RESULTS: The first case is a young man with an incidental finding of this lesion. The second and third cases are diabetic patients with congenital simple hamartoma of the retinal pigment epithelium and diabetic macular edema and the fourth one is a case of congenital simple hamartoma of the retinal pigment epithelium with a full-thickness macular hole. CONCLUSIONS: Differentiation of congenital simple hamartoma of the retinal pigment epithelium from other potentially sight-threatening lesions is important. Multimodal imaging can be helpful regarding this issue. Besides typical findings described in the literature, unique features in our cases include concurrent diabetic macular edema and association with a full-thickness macular hole.

Impact of first eye cataract surgery on falls among patients of advanced age: a comparative study.

OBJECTIVE: To compare the incidence of falls between patients with visually significant cataracts in both eyes and those who have undergone first-eye cataract surgery. METHODS: This retrospective case-control study involved patients with a history of cataracts in both eyes who had undergone first-eye cataract surgery within the past 9 to 12 months (pseudophakic group). The control group comprised patients with cataracts in both eyes (cataract group). We assessed best-corrected visual acuity (BCVA), systemic comorbidities and medications (using the Charlson comorbidity index), and independent daily activities (using the Lawton Instrumental Activities of Daily Living scale). The patients were questioned about experiencing two or more falls in the last 6 months. RESULTS: Each group comprised 50 patients. Binocular BCVA was significantly better in the pseudophakic group (0.05 ± 0.06 logMAR) than in the cataract group (0.77 ± 0.34 logMAR). Of all participants, 22% reported experiencing two or more falls in the last 6 months. Multivariate analysis demonstrated significantly better BCVA in participants with less than two falls. CONCLUSIONS: Patients of advanced age with visually significant cataracts in both eyes are at a higher risk of falling. First-eye cataract surgery may mitigate the occurrence of falls by improving binocular BCVA.

Double Retina Sign: A New Optical Coherence Tomography Finding in Combined Hamartoma of the Retina and Retinal Pigment Epithelium.

Purpose: To describe a case of combined hamartoma of the retina and retinal pigment epithelium (CHRRPE) with peculiar optical coherence tomography (OCT) findings. Methods: Case report. Results: A 7-year-old girl with a history of decreased visual acuity in the left eye since early childhood presented with pigmented epiretinal membrane in favor of CHRRPE based on clinical and paraclinical findings. In OCT images, an area of retinal defect was noted, and the retina doubled up on itself near the defect (double retina sign). Conclusion: Careful examination of OCT images in patients with CHRRPE can reveal new findings.

Pediatric rhegmatogenous retinal detachment: A meta-analysis of clinical features, surgical success rate, and prognostic factors.

Pediatric rhegmatogenous retinal detachment (RRD) is an issue of debate regarding its surgical outcomes and prognosis because of diagnosis delay, more complex etiological factors, and a higher prevalence of postoperative complications. This meta-analysis aims to evaluate the anatomical and visual outcomes of pediatric RRD and the factors that influence the treatment results. This is the first meta-analysis on this subject. We searched the relevant publications in the electronic databases of PubMed, Scopus, and Google Scholar. Eligible studies were included in the analysis. Anatomical success after one surgery and the final rates of success were estimated. Subgroup analysis was performed to find the rate of success in patients with different prognostic factors. This meta-analysis showed that the total rate of success after one surgery was about 64%, which implies that performing the first surgery was enough to get anatomical reattachment in most of the patients. The final anatomical rate of success was about 84%. In terms of visual acuity, the pooled results revealed statistically significant (P < 0.001) improvement in postoperative vision, with a 0.42 reduction in log of minimum angle of resolution (logMAR). The final rate of success was significantly lower in eyes with proliferative vitreoretinopathy (PVR) (about 25% lower in eyes with PVR, P < 0.001) and in the presence of congenital anomalies (about 36% lower in congenital cases, P = 0.008). Myopic RRD had a significantly better anatomical success rate. In conclusion, this study shows that there is a high chance of anatomical success after pediatric RRD treatment. The presence of PVR and congenital anomalies was associated with a poorer prognosis.

Cystoid macular oedema without leakage in fluorescein angiography: a literature review.

Cystoid macular oedema (CMO), which is defined as a macular thickening and cystic changes due to accumulation of fluid, could be asymptomatic and only diagnosed using paraclinical techniques. Fluorescein angiography (FA) and optical coherence tomography (OCT) are useful in detecting CMO in clinical practice. Non-leaking CMO, also known as angiographically silent CMO, is referred to as cases of CMO without leakage in fluorescein angiography. This type of CMO has been reported in some retinal dystrophies, in cases of maculopathy as a side effect of certain drugs, and also in some systemic disorders. The exact mechanism and treatment options for this type of CMO are still not clear. This literature review aims to discuss different causes of non-leaking CMO, proposed mechanisms, and management options. Three sections including drugs, retinal dystrophies, and systemic disorders are discussed in this review.

Metallic intralenticular foreign body removal without crystalline lens extraction: a case report.

We describe a technique for metallic intralenticular foreign body (ILFB) removal in a patient in whom there was no or minimal cataract formation or other complications. This technique required creating two corneal small incisions around the ILFB for inserting iris retractors to expose the ILFB. At the foreign body position, a clear corneal incision was made, and then the ILFB was removed with minimal manipulation by an intraocular magnet without complications. Because most occupational traumas occur in young people, this technique avoids the adverse outcomes of lens extraction in this age group.

Intravitreal recombinant tPA before vitrectomy for diabetic tractional retinal detachment: A randomized controlled trial.

PURPOSE: To investigate the effect of intravitreal recombinant tissue plasminogen activator (rt-PA) injection before vitrectomy on surgical facility and outcome in diabetic tractional retinal detachments (TRD). METHODS: Prospective, randomized, interventional clinical trial. A total of 38 eyes with diabetic TRD were candidates for vitrectomy. Patients were randomized 1:1 to receive intravitreal rt-PA, five to seven days before vitrectomy or no injection. Intraoperative surgical facility and anatomic success at month 3 after surgery were assessed. RESULTS: Mean patient age was 54.2 ± 9.4 years. There was no statistically significant difference between rt-PA and no injection groups with regard to anatomic success (89% versus 95%, respectively, P = 0.547) and best corrected visual acuity at 3 months (2.0 versus 2.1 logMAR, respectively, P = 0.840). However, surgical facility score was statistically significantly lower in rt-PA injection group compared to no injection group (4.1 ± 1.7, 5.8 ± 2.0, respectively, P = 0.007). CONCLUSIONS: Vitrectomy for TRD was easier after preoperative rt-PA injection, without affecting the anatomic and visual outcomes.

The Vascular Pattern In Vicinity Of Chorioretinal Coloboma: An Optical Coherence Tomography Angiography Study.

BACKGROUND: Chorioretinal coloboma is a congenital anomaly which can be present in a clinical spectrum with a possibility of significant influence on visual acuity. Optical coherence tomography (OCT) has been frequently used for the study of chorioretinal coloboma. OCT angiography (OCTA), as a non-invasive method of taking high-resolution images of chorioretinal vessels, can improve our understanding of developmental aspects of this anomaly. MATERIALS AND METHODS: This observational case series evaluated patients with chorioretinal coloboma, who were referred to the eye clinic of a university-based hospital between March 2018 and October 2019. All patients underwent comprehensive ocular examination, OCT, and OCTA using AngioVue technologies from the colobomatous sites. RESULTS: This study included OCTA imaging of five patients (six eyes) with chorioretinal coloboma lesions. Large retinal vessels, which were intact in all eyes, coursed through the coloboma in four cases and around the margin of the involved area in one case. Attenuation of the microvasculature in the vicinity of coloboma with various extents from nearly normal to severe attenuation was evident in OCTA. Five eyes of four patients had disorganized superficial vessel plexus. Also corkscrew vessels were found in one eye. CONCLUSIONS: This is the first study assessing the vascular pattern in the vicinity of chorioretinal coloboma using OCTA. OCTA revealed nearly normal to severely attenuated retinal microvasculature. At the same time, intact large retinal vessels at the level of superficial vessel plexus coursed across or around the coloboma. OCTA imaging adds new insights about vascular characteristics in the vicinity of these lesions.

Macular Infarction following Intravitreal Clindamycin Injection : A Case Report.

PURPOSE: To report a case of Toxoplasma retinochoroiditis that was complicated by macular infarction following intravitreal clindamycin injection. METHODS: A 32-year-old otherwise healthy woman with the diagnosis of reactivation of Toxoplasma retinochoroiditis in her right eye, underwent intravitreal clindamycin injection. Shortly after injection, the visual acuity deteriorated, and the fundus examination revealed an extensive area of macular necrosis accompanied by vascular occlusion. RESULTS: The patient was observed. Unfortunately, the condition did not improve over time and resulted in a large area of retinal atrophy. CONCLUSION: Macular infarction should be considered a rare but disastrous complication that can result in severe, irreversible visual loss.

Anterior segment study with the Pentacam Scheimpflug camera in refractive surgery candidates.

PURPOSE: The purpose of this study was to evaluate the anterior segment measurements according to refractive status in a sample of the Iranian population. SETTING: Rassoul Akram Hospital, Tehran University of Medical Sciences. MATERIAL AND METHODS: IN THIS STUDY, REFRACTIVE SURGERY CANDIDATES WERE ASSIGNED ACCORDING TO THE REFRACTIVE ERROR TO ONE OF THREE GROUPS : emmetropia, myopia, and hyperopia. Myopic eyes were further divided to four subgroups : simple myopic group, simple myopic astigmatism group, high myopic group, and high myopia with astigmatism group. Anterior segment measurements with the Pentacam Scheimpflug system were performed in the right eye of all subjects. RESULTS: The study sample was comprised of 283 subjects with a mean age of 29.1 ± 7.5 (standard deviation) years. Mean keratometry reading, Anterior chamber depth (ACD) and volume measurements were significantly higher in the myopic group and mean keratometry reading and anterior chamber angle measurements were significantly lower in the hyperopic group (P < 0.05, all comparisons). Maximum anterior elevation (AEmax) and maximum posterior elevation (PEmax), Q value, progression index, minimum corneal thickness, and corneal volume measurements were similar for all groups (P > 0.05, all comparisons). In the myopic subgroups, AEmax and PEmax and maximum keratometry (Kmax) were significantly higher, and ACD was lower in the astigmatic groups (P < 0.05, all comparisons). The Q value was less negative in low myopia (P < 0.05). CONCLUSIONS: Myopic eyes had steeper corneas than hyperopic eyes and anterior chamber measurements were significantly higher in the myopic eyes. In myopic eyes, AEmax and PEmax and Kmax measurements were higher, and ACD measurements were lower in the astigmatic groups.

Topography-Guided vs Wavefront-Optimized Surface Ablation for Myopia Using the WaveLight Platform: A Contralateral Eye Study.

PURPOSE: to compare treatments with wavefront-optimized and topography-guided ablations. METHODS: this prospective, randomized, contralateral study comprised 40 eyes (20 patients) with low to moderate myopia with or without astigmatism that underwent topography-guided photorefractive keratectomy (PRK) (ALLEGRO Topolyzer, Alcon Laboratories Inc) in one eye and wavefront-optimized PRK (ALLEGRETTO WAVE software version 2.020 default treatment, Alcon Laboratories Inc) in the fellow eye. Visual acuity, refractive error, contrast sensitivity, and Orbscan (Bausch & Lomb) 3- and 5-mm corneal irregularities were measured preoperatively and 3 and 6 months postoperatively. The results were compared between the two eyes. RESULTS: in both groups, preoperative corrected distance visual acuity (CDVA) (0.03±0.09 logMAR for topography-guided and 0.01 ± 0.06 logMAR for wavefront-optimized [P=.1]), 3-month postoperative uncorrected distance visual acuity (UDVA) (-0.0 1± 0.03 logMAR for topography-guided and -0.01 ± 0.03 logMAR for wavefront-optimized [P=.4]), and 6-month postoperative UDVA (0.01 ± 0.03 logMAR for topography-guided and 0.0 ± 0.01 logMAR for wavefront-optimized [P=.3]) were the same. All wavefront-optimized and 18 (90%) topography-guided eyes had UDVA of 20/20 or better. No significant differences were noted between groups in pre- and postoperative spherical and cylindrical refractive errors or corneal irregularity and contrast sensitivity measurements. Six months postoperatively, contrast sensitivity values at 3, 6, 12, and 18 cycles/degree were 5.7 ± 0.7, 6.0 ± 1.5, 6.1 ± 1.3, and 5.5 ± 1.5, respectively, in the topography-guided group, and 6.2 ± 0.6, 6.4 ±1.2, 6.4 ± 1.1, and 5.8 ± 1.3, respectively, in the wavefront-optimized group (P=.3, P=.5, P=.4, and P=.6, respectively). CONCLUSIONS: using the WaveLight excimer laser platform for PRK, CDVA and contrast sensitivity outcomes were statistically similar between the wavefront-optimized and topography-guided ablations in eyes with low to moderate myopia with and without astigmatism.

Ocular toxoplasmosis in Iran: 40 cases analysis.

AIM: To report ocular symptoms, funduscopic findings and demographic distribution of ocular toxoplasmosis in Iran METHODS: In this cross-sectional study, a total of 40 patients with ocular toxoplasmosis (24 female, 16 male) were enrolled. The distribution of symptoms and funduscopic findings were studied. RESULTS: The patients' age was in the range of 13-52 with the most common age of 19 years old. Twenty-four patients were female (60.0%). The most common presenting sign was visual loss. There was anterior chamber (AC) inflammation in 23 patients (57.5%). Vitritis was presented in 36 patients (90.0%). In 35 patients (87.5%), the retinal lesion was central. In patients with peripheral lesion, 3 patients (60.0%) had flashing vs 12.5% chance of flashing in all patients. Older patients had larger lesion (P=0.04). CONCLUSION: Ocular toxoplasmosis substantially varies among patients with different age, gender, status of immunity, site of lesion and other undetermined factors. One of ocular symptoms, flashing, may necessitate a more precise peripheral fundus examination.