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1.
J Vitreoretin Dis ; 6(2): 163-166, 2022.
Article in English | MEDLINE | ID: mdl-37008656

ABSTRACT

Purpose: This is the first report to our knowledge of ischemic retinopathy in a pediatric patient with Upshaw-Schulman syndrome (USS). Methods: A 6-year-old girl previously diagnosed with USS was referred to our clinic with exodeviation of the left eye and a 2-month-long decrease in vision of both eyes. A dilated fundus examination showed a total vitreous hemorrhage in both eyes. The first course of action was conservative treatment, with the patient experiencing visual-acuity improvement in her right eye. Results: An ischemic retina and optic nerve atrophy was found once the left eye was cleared of the hemorrhage. Conclusions: We present a case of a vitreous hemorrhage, possibly secondary to an episode of severe thrombocytopenia. Following USS diagnosis, providers should perform dilated ophthalmologic examinations as part of initial and follow-up general evaluations. This case exemplifies that, in understudied and underdescribed pediatric retinal diseases, extreme therapeutic decisions-such as surgery-should not be rushed.

2.
Am J Ophthalmol Case Rep ; 23: 101170, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34381922

ABSTRACT

PURPOSE: To present a 22-month-old girl with a complete retinal detachment who was found to have systemic exam findings consistent with neurofibromatosis type 1 during the course of multi-specialty exam under anesthesia. OBSERVATIONS: During examination under anesthesia, ophthalmic exam findings demonstrated retinal detachment with cyst formation, as well as peripheral non-perfusion of the retina in the left eye. Non-ophthalmic findings discovered on difficulty with intubation included a laryngeal plexiform neurofibroma and café-au-lait spots. CONCLUSIONS: Pediatric retinal detachments are uncommon compared to those in adults. Pediatric patients with neurofibromatosis type 1 can present with vision loss as the presenting symptom. Systemic signs and symptoms should be carefully screen and monitored.

3.
Int J Retina Vitreous ; 7(1): 41, 2021 May 25.
Article in English | MEDLINE | ID: mdl-34034832

ABSTRACT

BACKGROUND: To report a case of unilateral acute posterior multifocal placoid pigment epitheliopathy (APMPPE) in a Hispanic convalescent COVID-19 female patient. Case presentation A 35-year-old Hispanic female with exposure to the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) was evaluated due to unilateral visual loss. Ophthalmic examination and diagnostic tests were consistent with APMPPE. DISCUSSION: Ocular changes can be observed in patients with COVID-19. A complete ophthalmic evaluation must be performed in patients with low vision after SARS-CoV-2 infection.

4.
Sci Rep ; 11(1): 8823, 2021 04 23.
Article in English | MEDLINE | ID: mdl-33893363

ABSTRACT

To describe fundus autofluorescence (FAF) patterns in premature infants and to determine whether FAF increases gradually with increasing post-gestational age. This was a cross-sectional, observational and descriptive case series. FAF images were obtained from patients screened for Retinopathy of Prematurity. The presence of the following hypo-autofluorescence areas/structures was graded and ranked: macular pigment (foveal centre), optic nerve head, peripapillary vessels/vascular arcade (PP/VA), and equatorial vessels (EqV). Ranks were attributed to the number of structures visualized from the posterior pole towards the periphery. The rank of FAF could then be analysed by Spearman's correlation against age. Additionally, patients were divided by age into group 1 (< 40 weeks of corrected gestational age (WCGA)) and group 2 (> 40 WCGA). Differences between groups were tested with the Mann-Whitney U test. Thirteen patients were analysed. The mean WCGA at examination was 47.85 weeks. Spearman's correlation showed a strong positive correlation (r = 0.714) (P = 0.006) of FAF and WCGA. The Mann-Whitney U test revealed that the PP/VA and EqV were significantly more visible at > 40 WCGA than at < 40 WCGA (8.0 [P = 0.016] and 7.5 [P = 0.03], respectively). Patterns of FAF are described for the first time in premature infants. FAF increases gradually with age and centrifugally from the posterior pole towards the equator in premature infants.


Subject(s)
Fluorescence , Fundus Oculi , Cross-Sectional Studies , Humans , Infant, Newborn , Infant, Premature , Lipofuscin/metabolism , Retinal Pigment Epithelium/metabolism
5.
J Vitreoretin Dis ; 5(3): 251-257, 2021.
Article in English | MEDLINE | ID: mdl-37006518

ABSTRACT

Purpose: Retinoschisis in inflammatory and exudative retinopathy is a known but rare entity. We describe the presentation and clinical and surgical outcomes of a series of patients with retinoschisis in the setting of Coats disease. Methods: This retrospective case series of patients with Coats disease recorded visual acuity and the number and type of treatments (eg, angiography-guided photocoagulation, intravitreal bevacizumab, sub-Tenon triamcinolone, or vitreoretinal surgery). Results: Eighteen of 133 patients with Coats disease were diagnosed with retinoschisis by color imaging. All (100%) of the areas of schisis or macrocyst were associated with dense subretinal exudation, whereas only 7 (38.8%) were associated with exudative retinal detachment. Initial best-corrected visual acuity in the schisis cohort was 1.14 ± 1.19 (Snellen equivalent, 20/276) vs 1.42 ± 1.40 (Snellen, 20/526) in those without (P = .56). Final best-corrected visual acuity was 1.76 ± 1.37 (Snellen, 20/1150) and 1.45 ± 1.44 (Snellen, 20/563), respectively (P = .43). The mean number of treatments in individuals with schisis was 4.8 ± 2.9 for angiography-guided photocoagulation, 4.5 ± 2.9 for intravitreal bevacizumab, and 1.7±1.2 for sub-Tenon triamcinolone. Intraocular surgery was required in 39% (7 of 18) of patients with schisis vs 22% (25 of 115) for patients without schisis (P = .14). One eye required enucleation, and histopathology of the schisis pocket was obtained. Conclusions: The pathophysiology of retinoschisis in Coats disease is not completely understood. We propose that telangiectatic leakage, hypoxia, and toxicity to the retinal pigment epithelial cells play a role in cavity development, and therefore may represent a clinical feature of advanced or uncontrolled disease.

6.
Ophthalmol Retina ; 5(8): 805-814, 2021 08.
Article in English | MEDLINE | ID: mdl-33238225

ABSTRACT

PURPOSE: To describe the clinical characteristics, surgical outcomes, and management recommendations in patients with traumatic rhegmatogenous retinal detachment (RRD) resulting from self-injurious behavior (SIB). DESIGN: International, multicenter, retrospective, interventional case series. PARTICIPANTS: Patients with SIB from 23 centers with RRD in at least 1 eye. METHODS: Clinical histories, preoperative assessment, surgical details, postoperative management, behavioral intervention, and follow-up examination findings were reviewed. MAIN OUTCOME MEASURES: The rate of single-surgery anatomic success (SSAS) was the primary outcome. Other outcomes included new RRD in formerly attached eyes, final retinal reattachment, and final visual acuity. RESULTS: One hundred seven eyes with RRDs were included from 78 patients. Fifty-four percent of patients had bilateral RRD or phthisis bulbi in the fellow eye at final follow-up. The most common systemic diagnoses were autism spectrum disorder (35.9%) and trisomy 21 (21.8%) and the most common behavior was face hitting (74.4%). The average follow-up time was 3.3 ± 2.8 years, and surgical outcomes for operable eyes were restricted to patients with at least 3 months of follow-up (81 eyes). Primary initial surgeries were vitrectomy alone (33.3%), primary scleral buckle (SB; 26.9%), and vitrectomy with SB (39.7%), and 5 prophylactic SBs were placed. Twenty-three eyes (21.5%) with RRDs were inoperable. The SSAS was 23.1% without tamponade (37.2% if including silicone oil), and final reattachment was attained in 80% (36.3% without silicone oil tamponade). Funnel-configured RRD (P = 0.006) and the presence of grade C proliferative vitreoretinopathy (P = 0.002) correlated with re-detachment. The use of an SB predicted the final attachment rate during the initial surgery (P = 0.005) or at any surgery (P = 0.008. These associations held if restricting to 64 patients with ≥12 months followup. Anatomic reattachment correlated with better visual acuity (P < 0.001). CONCLUSIONS: RRD resulting from SIB poses therapeutic challenges because of limited patient cooperation, bilateral involvement, chronicity, and ongoing trauma in vulnerable and neglected patients. The surgical success rates were some of the lowest in the modern retinal detachment literature. The use of an SB may result in better outcomes, and visual function can be restored in some patients.


Subject(s)
Eye Injuries/etiology , Retina/injuries , Retinal Detachment/etiology , Scleral Buckling/methods , Self-Injurious Behavior/complications , Visual Acuity , Vitrectomy/methods , Adolescent , Adult , Aged , Child , Child, Preschool , Endotamponade/methods , Eye Injuries/diagnosis , Eye Injuries/surgery , Female , Follow-Up Studies , Humans , Male , Middle Aged , Postoperative Period , Retina/diagnostic imaging , Retina/surgery , Retinal Detachment/diagnosis , Retinal Detachment/surgery , Retrospective Studies , Silicone Oils/administration & dosage , Time Factors , Trauma Severity Indices , Treatment Outcome , Young Adult
7.
J Ophthalmol ; 2020: 7510903, 2020.
Article in English | MEDLINE | ID: mdl-32454993

ABSTRACT

PURPOSE: To characterize the clinical features in young patients with angle closure and to determine the characteristics associated with acquired anterior segment abnormality following retinopathy of prematurity (ROP) treatment. METHODS: We performed two retrospective case-control series. In the first series, we identified consecutive young angle closure patients without prior surgeries, with and without a history of ROP treatment; in the second series we identified consecutive patients who underwent ROP treatment, without and without anterior segment changes. RESULTS: In the first series, 25 eyes of 14 consecutive angle closure patients were included: 19 eyes (11 patients, 78.6%) had a history of treated ROP, while 6 eyes (3 patients) belonged to full-term patients. The treated ROP eyes had significantly shallower anterior chambers (1.77 ± 0.17 mm vs 2.72 ± 0.18 mm, P < 0.0001) and thicker lenses (5.20 ± 0.54 mm vs 3.98 ± 0.20 mm, P = 0.0002) compared to the full-term controls. In the second series, 79 eyes of 40 patients were included, with median gestational age of 24.6 weeks. Acquired iridocorneal adhesion was noted in the eight eyes (10.1%) at a mean age of 4.7 years and was associated with prior zone 1 and plus disease (P = 0.0013), a history of initial intravitreal bevacizumab treatment (IVB, P = 0.0477) and a history of requiring additional IVB after initial treatment (P = 0.0337). CONCLUSIONS: Many young angle closure patients may have a history of treated ROP and may present with the triad of increased lens thickness, microcornea, and angle closure.

8.
Ophthalmic Genet ; 41(1): 57-62, 2020 02.
Article in English | MEDLINE | ID: mdl-32124668

ABSTRACT

Background: Juvenile X-linked Retinoschisis (JXLRS) is a hereditary retinopathy that commonly presents with macular retinoschisis. In this study, we describe a group of patients who presented with peripheral retinoschisis with no macular schisis.Materials and Methods: A retrospective case series of three JXLRS patients with genetically confirmed RS1 genotypes was identified. Presence of macular and/or peripheral retinoschisis as assessed by optical coherence tomography (OCT), wide-field fluorescein angiography, clinical ophthalmoscopy, and color fundus photography.Results: The eyes of the three JXLRS patients with peripheral retinoschisis had no macular schisis or atrophy on OCT. ERG was available in one patient and showed no reduced b-waves on scotopic combined rod-cone response.Conclusions: RS1 mutations can cause a macular-sparing JXLRS phenotype. The diagnosis of JXLRS should be considered for young males presenting with peripheral retinoschisis even if there is no evidence of macular schisis.


Subject(s)
Eye Proteins/genetics , Fundus Oculi , Mutation , Retinoschisis/pathology , Adult , Child , Female , Humans , Male , Pedigree , Phenotype , Retinoschisis/genetics , Retrospective Studies
9.
Ophthalmol Retina ; 4(6): 602-612, 2020 06.
Article in English | MEDLINE | ID: mdl-32059986

ABSTRACT

PURPOSE: To investigate late retinal findings and complications of eyes with a history of retinopathy of prematurity (ROP) that did not meet treatment criteria and did not receive treatment during infancy. DESIGN: Retrospective, nonconsecutive, noncomparative, multicenter case series. PARTICIPANTS: Three hundred sixty-three eyes of 186 patients. METHODS: Data were requested from multiple providers on premature patients with a history of ROP and no treatment during infancy who demonstrated late retinal findings or complications and included age, gender, gestational age and weight, zone and stage at infancy, visual acuity, current retina vascularization status, vitreous character, presence of peripheral retinal findings such as lattice retinal tears and detachments (RDs), retinoschisis, and fluorescein findings. MAIN OUTCOME MEASURES: Rate of RDs and factors conferring a higher risk of RDs. RESULTS: The average age was 34.5 years (range, 7-76 years), average gestational age was 26.6 weeks (range, 23-34 weeks), and average birth weight was 875 g (range, 425-1590 g). Findings included lattice in 196 eyes (54.0%), atrophic holes in 126 eyes (34.7%), retinal tears in 111 eyes (30.6%), RDs in 140 eyes (38.6 %), tractional retinoschisis in 44 eyes (11.9%), and visible vitreous condensation ridge-like interface in 112 eyes (30.5%). Fluorescein angiography (FA) was performed in 113 eyes, of which 59 eyes (52.2%) showed leakage and 16 eyes (14.2%) showed neovascularization. Incomplete vascularization posterior to zone 3 was common (71.6% of eyes). Retinal detachments were more likely in patients with a gestational age of 29 weeks or less (P < 0.05) and in eyes with furthest vascularization to posterior zone 2 eyes compared with zone 3 eyes (P = 0.009). CONCLUSIONS: Eyes with ROP not meeting the treatment threshold during infancy showed various late retinal findings and complications, of which RDs were the most concerning. Complications were seen in all age groups, including patients born after the Early Treatment for Retinopathy of Prematurity Study. Contributing factors to RDs included atrophic holes within peripheral avascular retina, visible vitreous condensation ridge-like interface with residual traction, and premature vitreous syneresis. We recommend regular examinations and consideration of ultra-widefield FA examinations. Prospective studies are needed to explore the frequency of complications and benefit of prophylactic treatment and if eyes treated with anti-vascular endothelial growth factor therapy are at risk of similar findings and complications.


Subject(s)
Fluorescein Angiography/methods , Retina/pathology , Retinal Detachment/diagnosis , Retinal Perforations/diagnosis , Retinopathy of Prematurity/diagnosis , Visual Acuity , Adolescent , Adult , Aged , Child , Disease Progression , Female , Fundus Oculi , Humans , Male , Middle Aged , Retinal Detachment/etiology , Retinal Perforations/etiology , Retinopathy of Prematurity/complications , Retrospective Studies , Time Factors , Young Adult
10.
J Vitreoretin Dis ; 4(5): 430-432, 2020.
Article in English | MEDLINE | ID: mdl-37008293

ABSTRACT

Purpose: This report discusses a patient with Leber congenital amaurosis who presented with severe bilateral Coats-like reaction and 3 novel sequence variants in 2 different genes. Methods: The patient underwent complete ophthalmic and retinal evaluations including fluorescein angiography and optical coherence tomography as well as genetic studies. She was treated with intravitreal injection of intravitreal bevacizumab and laser photocoagulation. Results: Genetic analysis of the patient identified 2 novel sequence variants in the CEP290 (centrosomal protein 290) gene and another novel sequence variant in the RPGRIP1 (RPGR interacting protein 1) gene. Conclusions: The clinical presentation of Coats-like reaction in Leber congenital amaurosis can be associated with sequence variants in certain genes. The presence of multiple gene sequence variants in this patient may have contributed to the severity of disease.

11.
Retin Cases Brief Rep ; 14(2): 137-140, 2020.
Article in English | MEDLINE | ID: mdl-29176537

ABSTRACT

PURPOSE: Vitreoretinal surgical diseases in children are challenging because of the complex features of the vitreous, retina, and the interface between them. Posterior vitreous detachment is a crucial step during vitrectomy. To date, pharmacologic vitreolysis that liquefies the vitreous and disrupts the posterior hyaloid attachment to the retina has been studied. However, there are reports of unexplained adverse effects. We describe a case performed with a reproducible, safe and time-saving technique using a commercially available flexible loop for posterior vitreous detachment induction in a pediatric patient. METHODS: A 10-year-old boy with previously treated retinopathy of prematurity undergoes a 25-gauge pars plana vitrectomy for retina detachment repair. To achieve a posterior vitreous detachment, a flexible loop was used to grasp and pick the vitreoretinal interface around the optic nerve for dissection of the posterior hyaloid, followed by aspiration and cutting with the vitrectomy probe to complete the vitrectomy. RESULTS: At 3 months follow-up, total retinal reattachment was observed. The patient's vision improved from 20/400 to 20/150. CONCLUSION: Posterior vitreous detachment induction with a flexible loop instead of pharmacologic vitreolysis seems a promising tool as demonstrated in this clinical case. Further studies to demonstrate long-term safety and anatomical results are needed.


Subject(s)
Retina/pathology , Visual Acuity , Vitrectomy/methods , Vitreous Body/surgery , Vitreous Detachment/surgery , Child , Fluorescein Angiography/methods , Fundus Oculi , Humans , Male , Tomography, Optical Coherence/methods , Treatment Outcome , Vitreous Body/pathology , Vitreous Detachment/diagnosis
12.
Eur J Ophthalmol ; 30(5): NP18-NP22, 2020 Sep.
Article in English | MEDLINE | ID: mdl-31088114

ABSTRACT

PURPOSE: The aim is to report a case of conjunctival tattooing with inadvertent injection of tattoo ink into the vitreous cavity and its consequences, the scanning electron microscopy X-ray microanalysis of the ink components, and the microscopic findings of the affected conjunctiva and vitreous. METHODS: Descriptive case report. RESULTS: A 32-year-old man complained of ocular pain and blurred vision after undergoing a subconjuctival red ink tattoo in his left eye. Ophthalmologic examination revealed best corrected visual acuity of 20/80 and intraocular pressure of 26 mmHg. Pain was elicited with eye movements. The bulbar conjunctiva was colored intense red. In the anterior chamber, pigment granules and filaments were suspended on the aqueous humor, and lens capsule was also stained red. Ultrasonography showed high-density non-mobile echoes in the conjunctiva; anterior chamber and vitreous cavity revealed high-density mobile echoes corresponding to pigment particles. Conjunctival tattoo with inadvertent globe penetration was the clinical diagnosis. The patient received medical and surgical treatment. Histopathological examination of the conjunctiva showed red pigment globular deposits within the stroma, and neutrophils and sparse histiocytes with similar intracytoplasmic pigment granules were seen. No granulomatous foreign body reaction was noticed. Vitreous material contained pigment granules; no inflammatory cells were observed. Scanning electron microscopy X-ray microanalysis of the tattoo red ink revealed significant signals of iron, barium, and copper. CONCLUSION: Conjunctival tattoo is a new form of body decoration gaining worldwide popularity. This procedure is performed by untrained professionals causing severe ocular complications including blindness. Safety regarding tattoo ink needs further study as the composition varies among colors. Strict regulations on this matter should be considered.


Subject(s)
Conjunctiva , Eye Foreign Bodies/etiology , Eye Injuries, Penetrating/etiology , Ink , Tattooing/adverse effects , Vitreous Body/pathology , Adult , Electron Probe Microanalysis , Eye Foreign Bodies/diagnostic imaging , Eye Foreign Bodies/therapy , Eye Injuries, Penetrating/diagnostic imaging , Eye Injuries, Penetrating/therapy , Eye Pain/etiology , Humans , Intraocular Pressure/physiology , Male , Microscopy, Acoustic , Microscopy, Electron, Scanning , Tonometry, Ocular , Vision Disorders/diagnosis , Vision Disorders/etiology , Visual Acuity/physiology , Vitreous Body/chemistry
13.
Ophthalmic Surg Lasers Imaging Retina ; 50(5): 314-317, 2019 05 01.
Article in English | MEDLINE | ID: mdl-31100163

ABSTRACT

Intraocular medulloepithelioma is a rare congenital tumor that arises from the nonpigmented epithelium of the ciliary body. It is the second most common primary intraocular neoplasm during the first decade of life. It may present with an iris mass or cyst (56%), glaucoma (48%), cataract (26%), leukocoria (18%), decrease in vision (41%), or pain (30%). Here, the authors present a case of a medulloepithelioma investigated with multimodal imaging, including the first characterization with intraoperative optic coherence tomography. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:314-317.].


Subject(s)
Anterior Eye Segment/diagnostic imaging , Blindness/etiology , Brain Neoplasms/complications , Headache/etiology , Neuroectodermal Tumors, Primitive/complications , Visual Acuity , Blindness/diagnosis , Blindness/physiopathology , Brain Neoplasms/diagnosis , Child , Diagnosis, Differential , Female , Fluorescein Angiography , Fundus Oculi , Headache/diagnosis , Humans , Tomography, Optical Coherence
14.
Ophthalmic Surg Lasers Imaging Retina ; 50(4): 221-227, 2019 04 01.
Article in English | MEDLINE | ID: mdl-30998243

ABSTRACT

BACKGROUND AND OBJECTIVE: Retinovascular anomalies in the fellow eyes of patients with Coats' disease have been described, but the clinical significance is unknown, as well as whether these lesions progress over time. PATIENTS AND METHODS: This is an international, multicenter, retrospective, observational cohort study of fellow-eye abnormalities on widefield fluorescein angiography in patients with Coats' disease. RESULTS: Three hundred fifty eyes of 175 patients with Coats' disease were analyzed. A total of 33 patients (18.8%) demonstrated abnormal fellow-eye findings: 14 (42.4%) telangiectasias, 18 (54.5%) aneurysms, six (18.2%) segmental non-perfusion, six (18.2%) leakage, and two (6.0%) vascular tortuosity. All eyes were asymptomatic, and none of the lesions progressed over time. There was no association between fellow-eye findings with severity of Coats' disease (P = .16), patient age (P = .16), or presence of systemic vascular disease (P = .16). CONCLUSIONS: The vascular abnormalities in fellow eyes of patients with Coats' disease did not progress over time. Observation is a reasonable initial management strategy. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:221-227.].


Subject(s)
Eye Abnormalities/diagnosis , Fluorescein Angiography/methods , Retinal Telangiectasis/diagnosis , Retinal Vessels/abnormalities , Visual Acuity , Child , Eye Abnormalities/complications , Female , Follow-Up Studies , Fundus Oculi , Humans , Male , Retinal Telangiectasis/complications , Retinal Vessels/diagnostic imaging , Retrospective Studies , Time Factors , Tomography, Optical Coherence/methods
15.
Am J Ophthalmol Case Rep ; 14: 5-9, 2019 Jun.
Article in English | MEDLINE | ID: mdl-30766938

ABSTRACT

PURPOSE: MPPC syndrome has been described as a syndrome that presents with chorioretinal coloboma, posterior megalolenticonus, persistent fetal vasculature, and chorioretinal coloboma. The purpose of our study is to report three patients who present with a variation of MPPC syndrome who each underwent pars plana vitrectomy, pars plana lensectomy, and amblyopic management. Clinical characteristics, ancillary test findings, and post-surgical functional results are compared to what is reported in the literature. METHODS: Retrospective review of medical records of patients who presented with microcornea, persistent fetal vasculature, chorioretinal coloboma, and microphthalmia who underwent surgical correction at Bascom Palmer Eye Institute. RESULTS: 3 patients (6 eyes) were included, two males and one female. All patients were born full term, vaginally, and had no family history of genetic abnormalities affecting the eye. All patients had color fundus images, fluorescein angiography (FA) and echography. Four eyes underwent surgery. Following surgical intervention, patients demonstrated improved visual acuity, and improved functional status. CONCLUSION AND IMPORTANCE: Patients with microcornea, PFV, chorioretinal coloboma, and microphthalmos, can benefit from surgical intervention when functional decline or media opacities are noted. Though difficult to assess accurate visual acuity and visual improvement pre-operatively and post-operatively, it is evident that our patients demonstrated improvement in functionality and vision following surgical intervention.

16.
Ophthalmic Surg Lasers Imaging Retina ; 50(2): 120-124, 2019 02 01.
Article in English | MEDLINE | ID: mdl-30768221

ABSTRACT

Familial exudative vitreoretinopathy (FEVR) is a rare hereditary ocular disorder characterized by incomplete or abnormal development of peripheral retinal vasculature. The genes responsible for this disorder are associated with the wingless-related integration site (Wnt) signaling pathway, a critical pathway for the development of normal retinal vasculature. A pathogenic variant in any one of these genes may disrupt retinal vasculogenesis. Furthermore, the type and number of pathogenic variants may influence the severity of disease and clinical course. Here, the authors identify a novel pathogenic variant in the NDP gene, not previously described in the literature. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:120-124.].


Subject(s)
Eye Diseases, Hereditary/genetics , Eye Proteins/genetics , Genetic Diseases, X-Linked , Mutation , Nerve Tissue Proteins/genetics , Retinal Diseases/genetics , Child, Preschool , Familial Exudative Vitreoretinopathies , Genetic Predisposition to Disease , Humans , Male , Pedigree , Penetrance
17.
Ophthalmic Surg Lasers Imaging Retina ; 50(2): e33-e37, 2019 02 01.
Article in English | MEDLINE | ID: mdl-30768227

ABSTRACT

No consensus exists for the treatment of retinopathy in incontinentia pigmenti (IP). Vascular ischemia leads to tractional retinal detachments if untreated. Ultra-widefield fluorescein angiography (FA) is used to follow the vascular status of the retina. A 13-week-old female with IP presented with bilateral retinal vascular occlusions in both eyes. Ultra-widefield FA showed reperfusion after treatment with intravitreal bevacizumab (IVB) and angiography-guided laser to the avascular retina. Anti-vascular endothelial growth factor treatment reduces neovascularization and allows for growth of retinal vessels. IVB and FA-guided laser to the avascular retina is an option in IP. [Ophthalmic Surg Lasers Imaging Retina. 2019;50:e33-e37.].


Subject(s)
Angiogenesis Inhibitors/administration & dosage , Bevacizumab/administration & dosage , Incontinentia Pigmenti/complications , Laser Coagulation , Retinal Vein Occlusion/drug therapy , Female , Humans , Infant , Intravitreal Injections , Retinal Neovascularization/drug therapy , Treatment Outcome
18.
Digit J Ophthalmol ; 25(4): 49-58, 2019 Apr.
Article in English | MEDLINE | ID: mdl-32076388

ABSTRACT

Retinopathy of prematurity (ROP) is one of the leading causes of preventable blindness in children worldwide. Middle-income nations are currently experiencing epidemic levels of ROP, because greater access to neonatal intensive care units has improved survival rates of premature infants, but without sophisticated oxygen regulation. The epidemiology, screening infrastructure, treatment options, and challenges that these countries face are often tied to unique local socioeconomic, cultural, geopolitical, and medical factors. We present an overview and narratives of the current state of ROP in eight countries that are or soon will be experiencing ROP epidemics-India, Kenya, Mexico, Nigeria, Phillipines, Romania, Thailand, and Venezuela-with a view to fostering both an understanding of the differences in the ROP landscape in various settings and an interest in the further development of ROP screening and treatment services tailored to local requirements.


Subject(s)
Blindness/etiology , Infant, Premature , Retinopathy of Prematurity/ethnology , Blindness/epidemiology , Humans , Incidence , India/epidemiology , Infant, Newborn , Intensive Care Units, Neonatal/statistics & numerical data , Kenya/epidemiology , Mexico/epidemiology , Nigeria/epidemiology , Philippines/epidemiology , Prevalence , Retinopathy of Prematurity/complications , Romania/epidemiology , Thailand/epidemiology , Venezuela/epidemiology
19.
Am J Ophthalmol Case Rep ; 13: 41-45, 2019 Mar.
Article in English | MEDLINE | ID: mdl-30511034

ABSTRACT

PURPOSE: To report a case of occlusive retinal vasculopathy, secondary to hyperhomocysteinemia. OBSERVATIONS: A 43-year-old male was examined at the retina outpatient clinic due to complaints of bilateral decrease in visual acuity. The patient underwent a comprehensive ophthalmological examination, wide-field fundus photographs and fluorescein angiography, as well as spectral domain optical coherence tomography with enhanced-deep imaging. The patient had a significant medical history of chronic kidney disease and progressive bilateral vision loss over the last two years, which worsened in the left eye during the past 3 months. Fundus examination revealed a vitreous hemorrhage in the left eye and bilateral proliferative retinopathy. Blood glucose and systemic blood pressure were unremarkable. Plasma homocysteine was reported at >500 µmol/L, which is higher than the corrected reference range by age. CONCLUSION AND IMPORTANCE: Hyperhomocysteinemia is a rare but well-known disease, capable of accelerating atherosclerotic disease and generating a prothrombotic state that can lead to multiple systemic complications. Despite its low incidence, the disease should be part of the differential diagnosis in patients with bilateral proliferative retinopathy, in the absence of diabetes mellitus and systemic hypertension.

20.
Ophthalmic Surg Lasers Imaging Retina ; 49(9): 708-711, 2018 09 01.
Article in English | MEDLINE | ID: mdl-30222806

ABSTRACT

A 16-year-old male presented with blurred vision in the right eye after recent travel to Nicaragua. Funduscopic examination revealed subretinal cysticercosis superior to the optic nerve. The cyst was drained and excised using a bimanual, three-dimensional, heads-up-assisted pars plana vitrectomy without complications. Technical maneuvers for cyst extraction along with clinicopathological correlation are described. Postoperatively, the patient exhibits no signs of recurrence and has excellent vision. [Ophthalmic Surg Lasers Imaging Retina. 2018;49:708-711.].


Subject(s)
Cysticercosis/surgery , Eye Infections, Parasitic/surgery , Retina/diagnostic imaging , Surgery, Computer-Assisted/methods , Visual Acuity , Vitrectomy/methods , Adolescent , Cysticercosis/diagnosis , Eye Infections, Parasitic/diagnosis , Fluorescein Angiography , Fundus Oculi , Humans , Male , Ophthalmoscopy , Retina/parasitology , Tomography, Optical Coherence
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