Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 315
Filter
1.
Ophthalmic Genet ; : 1-6, 2024 Jun 05.
Article in English | MEDLINE | ID: mdl-38836470

ABSTRACT

INTRODUCTION: Familial Exudative Vitreoretinopathy (FEVR) is a heritable retinal vascular disease characterized by incomplete vascularization of the peripheral retina resulting in ischemia. Fifty percent of FEVR cases 10 are due to known pathogenic genetic variants, and disease phenotype can vary greatly. FEVR is a clinical diagnosis, however, genetic testing can play a key role in screening for FEVR in genetically susceptible populations, thus leading to early treatment and improved patient outcomes. CASE: A 2-year-old male with no known past ocular or medical history was diagnosed with FEVR upon examination under anesthesia and multimodal retinal imaging. Genetic testing identified a Jagged 1 (JAG1) variant of uncertain significance, 15 which has been linked to FEVR in recent studies. Despite close follow-up and treatment, the patient experienced a funnel retinal detachment in the right eye approximately one year after diagnosis. DISCUSSION: This case in conjunction with recent literature suggests that JAG1 variants are likely associated with FEVR. Further investigations are necessary to identify the frequency of JAG1 variants among patients with FEVR. Robust understanding of FEVR's heterogenous genetic profile will lead to improved treatment modalities 20 and patient outcomes.

2.
Am J Ophthalmol Case Rep ; 34: 102067, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38707950

ABSTRACT

Purpose: To report 2 cases of enlarged foveal avascular zone (FAZ) on optical coherence angiography (OCTA) imaging in pediatric patients with cutis marmorata telangiectatica congenita (CMTC). Observations: A 10-week-old female and a 3-year-old male diagnosed with CMTC presented for retinal examination. Both had peripheral avascularity on fluorescein angiography (FA) and enlargement of the FAZ on OCTA in both eyes. Conclusions and Importance: Pediatric patients with CMTC should undergo ocular evaluation with not only FA, but also OCTA to more robustly evaluate the affected retina in this rare disease.

3.
Article in English | MEDLINE | ID: mdl-38752919

ABSTRACT

This report describes a unique case of a Coats-like presentation of familial exudative vitreoretinopathy in an 11-year-old girl. The patient was originally referred for evaluation of presumed Coats disease and presented with telangiectatic vessels, perivascular exudates, diffuse peripheral exudation, and intraretinal hemorrhages. Clinical and angiographical findings were consistent with familial exudative vitreoretinopathy, while genetic testing identified variants of uncertain significance in two associated genes, LRP5 and ZNF408. In silico analysis predicts the LRP5 variant to be pathogenic. Retinal vasculopathies often have phenotypic overlap, warranting angiographic examination of both eyes and genetic testing to uncover the correct diagnosis and guide proper treatment. [Ophthalmic Surg Lasers Imaging Retina 2024;55:XX-XX.].

4.
J Vitreoretin Dis ; 8(3): 234-246, 2024.
Article in English | MEDLINE | ID: mdl-38770073

ABSTRACT

Purpose: Advancements in retinal imaging have augmented our understanding of the pathology and structure-function relationships of retinal disease. No single diagnostic test is sufficient; rather, diagnostic and management strategies increasingly involve the synthesis of multiple imaging modalities. Methods: This literature review and editorial offer practical clinical guidelines for how the retina specialist can use multimodal imaging to manage retinal conditions. Results: Various imaging modalities offer information on different aspects of retinal structure and function. For example, optical coherence tomography (OCT) and B-scan ultrasonography can provide insights into the microstructural anatomy; fluorescein angiography (FA), indocyanine green angiography (ICGA), and OCT angiography (OCTA) can reveal vascular integrity and perfusion status; and near-infrared reflectance and fundus autofluorescence (FAF) can characterize molecular components within tissues. Managing retinal vascular diseases often includes fundus photography, OCT, OCTA, and FA to evaluate for macular edema, retinal ischemia, and the secondary complications of neovascularization (NV). OCT and FAF play a key role in diagnosing and treating maculopathies. FA, OCTA, and ICGA can help identify macular NV, posterior uveitis, and choroidal venous insufficiency, which guides treatment strategies. Finally, OCT and B-scan ultrasonography can help with preoperative planning and prognostication in vitreoretinal surgical conditions. Conclusions: Today, the retina specialist has access to numerous retinal imaging modalities that can augment the clinical examination to help diagnose and manage retinal conditions. Understanding the capabilities and limitations of each modality is critical to maximizing its clinical utility.

5.
Am J Ophthalmol Case Rep ; 34: 102060, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38699441

ABSTRACT

Purpose: To report a case of oculo-facio-cardio-dental (OFCD) syndrome secondary to a novel BCOR variant in a pediatric patient with congenital cataracts, microphthalmia, persistent fetal vasculature (PFV), focal chorioretinal hyperpigmentation, peripheral retinal avascularity, and foveal photoreceptor atrophy. Observations: A 3-month-old female patient was referred for bilateral congenital cataracts with microphthalmia. Her past medical history was significant for syndactyly of the toes, left bifid rib, atrial septal defect, patent ductus arteriosus, mitral regurgitation, pulmonary hypertension, anemia of prematurity, vesicoureteral reflux, and duodenal atresia. Examination under anesthesia revealed persistent fetal vasculature (PFV) with peripheral avascularity, foveal photoreceptor atrophy, and focal chorioretinal hyperpigmentation. A bilateral lensectomy with anterior vitrectomy and posterior capsulotomy were performed. Genetic testing identified a novel heterozygous pathogenic variant in the BCOR gene (c.1612C > T (p.Gln538Ter)), confirming a diagnosis of OFCD syndrome. Conclusions and importance: This case describes novel posterior segment findings in a patient with OFCD. A detailed examination of both anterior and posterior segments in combination with multimodal imaging should be performed in patients suspected of having OFCD, as this may be critical in determining visual potential and appropriate surgical management.

6.
JAMA Ophthalmol ; 142(5): e234938, 2024 May 01.
Article in English | MEDLINE | ID: mdl-38770959

ABSTRACT

This case report describes a diagnosis of combined hamartoma of the retina and retinal pigment epithelium (RPE) with filamentous RPE hyperplasia in a female child with a history of amblyopia, myopia, and exotropia of the affected eye.


Subject(s)
Hamartoma , Hyperplasia , Retinal Diseases , Retinal Pigment Epithelium , Tomography, Optical Coherence , Humans , Hamartoma/diagnosis , Retinal Pigment Epithelium/pathology , Retinal Diseases/diagnosis , Fluorescein Angiography/methods , Female , Male
7.
Ophthalmol Retina ; 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-38302055

ABSTRACT

PURPOSE: To report the clinical presentation and outcomes in patients who underwent surgery for proliferative sickle cell retinopathy (PSCR). DESIGN: Retrospective, consecutive case series. SUBJECTS: All patients who underwent vitreoretinal surgery for complications secondary to PSCR between January 1, 2014, and December 31, 2021, at a university referral center. METHODS: Retrospective consecutive case series. MAIN OUTCOME MEASURES: Best-corrected visual acuity (BCVA), single operation anatomic success rate. RESULTS: The study included 65 eyes of 61 patients. Disease distribution included 24 (44.4%) eyes with hemoglobin SC disease, 14 (25.9%) with hemoglobin SS disease, 13 (24.1%) with sickle cell trait, and 3 (5.6%) with sickle cell-ß thalassemia. Preoperative transfusion was not performed in any study patients. Regional anesthesia with monitored anesthesia care (RA-MAC) was utilized in 58 (89.2%) eyes and general anesthesia in 7 (10.8%). In eyes that underwent surgery for retinal detachment (RD; N = 52) the rate of single operation anatomic success was 72.4% with combined scleral buckling/pars plana vitrectomy (SB/PPV; N = 29) compared with 47.8% with PPV alone (N = 23; P = 0.07). Mean BCVA at the last follow-up examination was 1.27 (20/372) in the SB/PPV group and 1.05 (20/226) in the PPV group (P = 0.48). In all SB cases, an encircling band was utilized and there were no known cases of anterior segment ischemia. All eyes that had surgery for vitreous hemorrhage (N = 13) underwent PPV with endolaser and mean BCVA improved from 1.67 (20/944) preoperatively to 0.45 (20/56) at last follow-up examination (P < 0.001). Mean preoperative BCVA, indication for surgery, single operation success rate, and mean BCVA at last follow-up examination did not differ based on sickle cell disease type (P > 0.05). CONCLUSIONS: In patients with RD, SB/PPV achieved slightly higher rates of single operation anatomic success compared with PPV alone. Visual acuity outcomes were similar in the 2 groups. The majority of patients received RA-MAC anesthesia and preoperative transfusions were not performed. There were no cases of postoperative anterior segment ischemia. Hemoglobin SC disease was the most common disease type in the current study and surgical outcomes did not differ between sickle cell disease types. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

8.
JAMA Ophthalmol ; 142(2): e234740, 2024 Feb 01.
Article in English | MEDLINE | ID: mdl-38358449

ABSTRACT

This case report discusses the evolution of crystalline retinopathy secondary to systemic hyperoxalosis after kidney transplant for hyperoxaluria was performed.


Subject(s)
Hyperoxaluria , Kidney Transplantation , Humans , Kidney Transplantation/adverse effects , Hyperoxaluria/diagnosis , Hyperoxaluria/etiology
9.
Am J Ophthalmol Case Rep ; 34: 102015, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38384735

ABSTRACT

Purpose: To report 2 cases of atypically located, non-nasal colobomas in the pediatric population. Observations: A 3-week-old female neonate with no known past ocular or medical history was diagnosed with temporal iris and chorioretinal coloboma with tractional membranes upon examination under anesthesia and imaging. A 9-year-old female with a history of bilateral sensorineural hearing loss and left mild hydronephrosis presented with a temporal chorioretinal coloboma associated with retinal detachment. Conclusions and importance: Very few cases of atypically located, non-nasal pediatric colobomas have been reported, and they lack a clear cause or mechanism of formation. Continued documentation of their occurrence and research into their formation at a molecular and embryological level are warranted to better understand their pathogenesis.

10.
Ophthalmic Surg Lasers Imaging Retina ; 55(5): 285-288, 2024 May.
Article in English | MEDLINE | ID: mdl-38408227

ABSTRACT

A 37-week-old girl underwent ophthalmic examination. Born at 32 weeks, the infant weighed 680 grams and received high-flow nasal cannula for respiratory distress of the newborn. Dilated fundus examination of the right eye revealed an atypical chorioretinal coloboma; the left eye revealed hyperpigmentary changes in the macula. Fluorescein angiography of both eyes showed retinal vascularization to zone II. Genetic testing revealed a heterozygous variant of uncertain significance in the catenin Alpha 1 (CTNNA1) gene. CTNNA1 gene abnormalities have been implicated as causes of familial exudative vitreoretinopathy (FEVR). It is important to recognize possible simultaneous retinopathy of prematurity and FEVR. [Ophthalmic Surg Lasers Imaging Retina 2024;55:285-288.].


Subject(s)
Choroid , Coloboma , Fluorescein Angiography , Retinopathy of Prematurity , Humans , Female , Coloboma/diagnosis , Coloboma/genetics , Retinopathy of Prematurity/diagnosis , Choroid/abnormalities , Fluorescein Angiography/methods , Infant, Premature , Infant, Newborn , Fundus Oculi , Gestational Age , Familial Exudative Vitreoretinopathies/diagnosis
11.
Ophthalmol Retina ; 8(1): 42-48, 2024 Jan.
Article in English | MEDLINE | ID: mdl-37660736

ABSTRACT

PURPOSE: Classify the appearance and quantify the growth rate of chorioretinal atrophy in patients who received voretigene neparvovec-rzyl (VN) for RPE65-mediated retinal degeneration. DESIGN: Multicenter retrospective analysis. SUBJECTS: Patients who underwent subretinal VN injection at 5 institutions and demonstrated posterior-pole chorioretinal atrophy. METHODS: Ultrawidefield scanning laser ophthalmoscopy or color fundus photos were assessed before and after subretinal VN. Atrophy was defined as regions with ≥ 2 of the following: (1) partial or complete retinal pigment epithelial depigmentation; (2) round shape; (3) sharp margins; and (4) increased visibility of choroidal vessels. Atrophy was qualitatively classified into different subtypes. All atrophy was manually segmented. Linear mixed-effects models with random slopes and intercepts were fit using atrophy area and square root of atrophy area. MAIN OUTCOME MEASURES: Number of eyes with each atrophy pattern, and slopes of linear mixed-effects models. RESULTS: Twenty-seven eyes from 14 patients across 5 centers developed chorioretinal atrophy after subretinal VN. A mean of 5.8 ± 2.7 images per eye obtained over 2.2 ± 0.8 years were reviewed, and atrophy was categorized into touchdown (14 eyes), nummular (15 eyes), and perifoveal (12 eyes) subtypes. Fifteen eyes demonstrated > 1 type of atrophy. Thirteen of 14 patients demonstrated bilateral atrophy. The slopes of the mixed-effects models of atrophy area and square root of atrophy area (estimate ± standard error) were 1.7 ± 1.3 mm2/year and 0.6 ± 0.2 mm/year for touchdown atrophy, 5.5 ± 1.3 mm2/year and 1.2 ± 0.2 mm/year for nummular atrophy, and 16.7 ± 1.8 mm2/year and 2.3 ± 0.2 mm/year for perifoveal atrophy. The slopes for each type of atrophy were significantly different in the square root of atrophy model, which best fit the data (P < 0.05). CONCLUSIONS: Chorioretinal atrophy after subretinal VN for RPE65-mediated retinal degeneration developed according to a touchdown, nummular, and/or perifoveal pattern. Perifoveal atrophy grew the most rapidly, while touchdown atrophy grew the least rapidly. Understanding the causes of these findings, which are present in a minority of patients, merits further investigation. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.


Subject(s)
Choroid Diseases , Retinal Degeneration , Humans , Retinal Degeneration/diagnosis , Retinal Degeneration/genetics , Retrospective Studies , Atrophy
12.
Ophthalmol Retina ; 8(3): 279-287, 2024 Mar.
Article in English | MEDLINE | ID: mdl-37838276

ABSTRACT

PARTICIPANTS: This article includes 7293 infants (14 586 eyes) screened for ROP across 5 centers in the United States (Austin Retina Associates, Austin, TX; Bascom Palmer Eye Institute, Miami, FL; Beaumont Eye Institute, Royal Oak, MI; Massachusetts Eye and Ear, Boston, MA; and Stanford Byers Eye Institute, Stanford, CA). PURPOSE: To analyze the incidence and timing of treatment requiring retinopathy of prematurity (ROP) in extremely small premature infants. We hypothesize that the smaller the infant by gestational age and birthweight, the higher their likelihood of requiring treatment for ROP. DESIGN: Premature infants screened for Retinopathy of Prematurity from 2002-2022 were divided into cohorts based on the following criteria based on gestational age (GA) and birth weight (BW). "Micropremature infants" are infants born between 24-26 weeks GA and between 600-799 g BW. "Nanopremature infants" are born ≤ 24 weeks GA and ≤ 600 g BW. METHODS: Retrospective chart review. MAIN OUTCOME MEASURES: The incidence and timing of treatment-requiring ROP. RESULTS: We found that infants defined as nanopremature had a ∼63% chance of requiring treatment at an average postmenstrual age (PMA) of 36.6 weeks, whereas those defined as micropremature had a 30% chance of requiring treatment at an average PMA of 36.3 weeks. This significantly contrasts with the risk of all screened babies for ROP where the risk of requiring treatment was 8.5%. CONCLUSION: Micropremature and nanopremature infants are significantly more likely to require treatment for ROP. With demographic data matched to all 5 major US regions spanning the last decade, these results have the potential to inform neonatologists, pediatricians, and ophthalmologists of an important shift in the landscape of prematurity in the United States. FINANCIAL DISCLOSURE(S): Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.


Subject(s)
Retinopathy of Prematurity , Infant, Newborn , Infant , Humans , United States/epidemiology , Retrospective Studies , Retinopathy of Prematurity/diagnosis , Retinopathy of Prematurity/epidemiology , Retinopathy of Prematurity/therapy , Incidence , Risk Factors , Infant, Premature , Birth Weight
13.
Ophthalmic Genet ; 45(2): 175-179, 2024 Apr.
Article in English | MEDLINE | ID: mdl-37575054

ABSTRACT

BACKGROUND: Choroidal neovascularization (CNV) is a rare complication of choroideremia that occurs secondary to relative atrophy of the retinal pigment epithelium and eventual rupture of Bruch's membrane. The ideal management of CNV in choroideremia is unclear. MATERIALS AND METHODS: Case report. OBSERVATIONS: A 14-year-old male with no known ocular history presented to the eye emergency department complaining of a central scotoma in the right eye for 4 days. He had no past medical history and family history was unremarkable for known ocular disease. Visual acuity was 20/70 in the right eye and 20/30 in the left eye. Posterior segment exam revealed chorioretinal atrophy extending from the outer macula to the midperiphery in both eyes. There was CNV with associated subretinal hemorrhage in the right eye. Optical coherence tomography demonstrated the presence of CNV with subretinal fluid in the right eye and parafoveal outer retinal atrophy in both eyes. Genetic testing revealed a hemizygous exon 2 deletion on the CHM gene, pathogenic for choroideremia. The patient received a total of 3 injections 4 weeks apart followed by 1 injection 6 weeks later with resolution of the subretinal hemorrhage and reduction in CNV size with improvement in visual acuity to 20/20 at last follow-up exam. CONCLUSIONS AND IMPORTANCE: Choroidal neovascularization is a rare cause of central vision loss in patients with choroideremia. In this report, we demonstrate a good functional and anatomic response to intravitreal bevacizumab in a 14-year-old patient with undiagnosed choroideremia who presented with CNV-induced central vision loss.


Subject(s)
Choroidal Neovascularization , Choroideremia , Male , Humans , Adolescent , Angiogenesis Inhibitors/therapeutic use , Choroideremia/complications , Choroideremia/diagnosis , Choroideremia/genetics , Intravitreal Injections , Bevacizumab/therapeutic use , Choroidal Neovascularization/diagnosis , Choroidal Neovascularization/drug therapy , Choroidal Neovascularization/etiology , Vision Disorders , Retinal Hemorrhage/diagnosis , Retinal Hemorrhage/etiology , Tomography, Optical Coherence , Atrophy/complications , Fluorescein Angiography
14.
J Vitreoretin Dis ; 7(4): 299-304, 2023.
Article in English | MEDLINE | ID: mdl-37927311

ABSTRACT

Purpose: To evaluate the visual outcomes with unexplained vision loss during or after silicone oil (SO) tamponade. Methods: This multicenter retrospective case series comprised patients with unexplained vision loss associated with SO tamponade or its removal. Eyes with other clear secondary identifiable causes of vision loss were excluded. Results: Twenty-nine eyes of 28 patients (64% male) were identified. The mean age was 50 ± 13 years (range, 13-78 years). The mean duration of SO tamponade was 148 ± 38 days. Eighteen eyes (62%) developed unexplained vision loss while under SO; 11 (38%) had vision loss after SO removal. The most common optical coherence tomography (OCT) finding was ganglion cell layer (GCL) thinning (55%). Eyes with vision loss after SO removal had a mean logMAR best-corrected visual acuity (BCVA) of 0.6 ± 0.7 (Snellen 20/85) before SO tamponade and 1.2 ± 0.4 (20/340) before SO removal. By the last follow-up after SO removal, the BCVA had improved to 1.1 ± 0.4 (20/235). In eyes with vision loss after SO removal, the BCVA before SO removal was 0.7 ± 0.7 (20/104), which deteriorated to 1.4 ± 0.4 (20/458) 1 month after SO removal. By the last follow-up, the BCVA had improved to 1.0 ± 0.5 (20/219). Conclusions: Unexplained vision loss can occur during SO tamponade or after SO removal. Vision loss was associated with 1000-centistoke and 5000-centistoke oil and occurred in macula-off and macula-on retinal detachments. The duration of tamponade was 3 months or longer in the majority of eyes. Most eyes had GCL thinning on OCT. Gradual visual recovery can occur yet is often incomplete.

15.
J Vitreoretin Dis ; 7(4): 344-347, 2023.
Article in English | MEDLINE | ID: mdl-37927319

ABSTRACT

Purpose: To describe a case of microcephaly, unilateral retinal fold, and familial exudative vitreoretinopathy (FEVR)-like phenotype in the context of 2 TUBGCP6 variants. Methods: A case and its findings were analyzed. Results: A 4-month-old boy with no family history of eye disease presented by referral for management of presumed persistent fetal vasculature in the left eye. An external examination showed microcephaly. The patient grimaced to light in both eyes, and the anterior segments were unremarkable. On dilated fundus examination, diffuse chorioretinal atrophy was present bilaterally. In the left eye, a retinal fold emanated from the optic nerve head. There was early termination of retinal vasculature, especially in zone 3 in the left eye, resembling a FEVR-like phenotype. Panel-based genetic testing was performed and found 2 mutations in TUBGCP6. Conclusions: Microcephaly, chorioretinopathy, and retinal folds may be associated with TUBGCP6 mutations and masquerade as PFV.

16.
Ophthalmic Surg Lasers Imaging Retina ; 54(11): 634-642, 2023 Nov.
Article in English | MEDLINE | ID: mdl-37956317

ABSTRACT

BACKGROUND AND OBJECTIVE: To describe the multimodal imaging and histopathological features of patients with dragged optic disc vessels (DODV). PATIENTS AND METHODS: This is a retrospective, observational analysis using multimodal imaging of eyes with DODV in patients with retinal vascular diseases including familial exudative vitreoretinopathy, inflammatory disease, and others. In addition, two additional enucleated eyes with DODV underwent histopathological analysis. RESULTS: Of the 13 patients, eight were girls and five were boys. Mean age was 5 years (ranging from 4 months to 10 years old). Of the 15 eyes, 12 (80%) demonstrated temporal dragging and three (20%) had nasal dragging. Retinal vascular abnormalities were present in 11 of the fellow eyes. Multimodal imaging demonstrated features of DODV including direction of traction, outer retinal thickening, increased flow, and other features. Only two (13.3%) eyes required surgical intervention. Mean follow-up was 14 (range 3 to 30 months) months. At last follow-up all eyes remained stable. Last visual acuity ranged from 20/100 to counting fingers. As well, two enucleated globes of adults with retinopathy of prematurity underwent histopathologic evaluation, showing optic nerve fibers that extended from the optic nerve into the DODV. CONCLUSIONS: DODV is a sign of various late-stage retinal vascular diseases, associated with poor visual function. Multimodal imaging and histopathology can assist in understanding the disease pathology. [Ophthalmic Surg Lasers Imaging Retina 2023;54:634-642.].


Subject(s)
Optic Disk , Retinal Diseases , Vascular Diseases , Male , Adult , Female , Infant, Newborn , Humans , Child, Preschool , Optic Disk/pathology , Retinal Diseases/pathology , Retina/pathology , Multimodal Imaging , Vascular Diseases/pathology , Retrospective Studies
17.
Am J Ophthalmol Case Rep ; 32: 101931, 2023 Dec.
Article in English | MEDLINE | ID: mdl-37822332

ABSTRACT

Purpose: To report a case of Axenfeld-Rieger and Stickler Syndrome in a pediatric patient. Observations: A 3-month-old male was referred to the glaucoma clinic after he was noted to have elevated intraocular pressures in both eyes. His family history was notable for infantile glaucoma on his maternal side and retinal detachment on his paternal side. He was found to have anterior segment dysgenesis with iris strands, iridocorneal adhesions, and corectopia, as well as veil-like vitreous in both eyes. He required trabeculotomy, goniotomy, and multiple Baerveldt glaucoma implants in both eyes to achieve intraocular pressure control. Furthermore, the patient later developed macula-involving retinal detachments in both eyes, requiring pars plana vitrectomy with silicone oil tamponade. Genetic analysis confirmed heterozygous pathogenic variants in both the FOXC1 and COL2A1 genes, leading to the concurrent diagnoses of Axenfeld-Rieger and Stickler syndromes. Conclusions and importance: This is a rare case of a patient with concurrent Axenfeld-Rieger and Stickler syndromes. The severity of pathology in both the anterior and posterior segments required a collaborative multidisciplinary approach. In the diagnostic evaluation of congenital eye diseases, if there is strong family history of atypical findings for a given diagnosis, concurrent syndromes should be considered and ruled out. A comprehensive eye genetics panel may be a useful tool in these cases.

18.
Ophthalmic Surg Lasers Imaging Retina ; 54(10): 574-579, 2023 10.
Article in English | MEDLINE | ID: mdl-37847161

ABSTRACT

BACKGROUND AND OBJECTIVE: Retinal detachments (RDs) are a complication of X-linked retinoschisis (XLRS) with a poor prognosis. This study aims to report outcomes of XLRS-RD repair in pediatric patients. MATERIALS AND METHODS: The study is a retrospective analysis of pediatric patients undergoing vitreoretinal surgery for XLRS-RDs from 2000 to 2022. RESULTS: Nine patients (11 eyes) met inclusion criteria. All patients were boys, with a mean age of 8 years. Most RDs arose inferiorly (64%). Seven (64%) detachments were macula-involving. Seven (64%) detachments were repaired with combined scleral buckling and vitrectomy, two (18%) detachments were repaired with vitrectomy alone, one (9%) detachment underwent a primary scleral buckling procedure, and one (9%) asymptomatic detachment with a pigment demarcation line was observed. Silicone oil was used in eight of nine (89%) eyes undergoing vitrectomy. Final visual acuity was 20/200 or better in eight (73%) eyes. One eye that underwent surgical intervention remained unattached at follow-up. CONCLUSION: Surgical repair in patients with XLRSRDs was associated with successful reattachment, although visual prognosis varied. [Ophthalmic Surg Lasers Imaging Retina 2023;54:574-579.].


Subject(s)
Macula Lutea , Retinal Detachment , Retinoschisis , Male , Humans , Child , Female , Retinal Detachment/diagnosis , Retinal Detachment/etiology , Retinal Detachment/surgery , Retinoschisis/diagnosis , Retinoschisis/etiology , Retinoschisis/surgery , Retrospective Studies , Treatment Outcome , Scleral Buckling/methods , Vitrectomy/methods
19.
Ophthalmic Surg Lasers Imaging Retina ; 54(10): 603-606, 2023 10.
Article in English | MEDLINE | ID: mdl-37847164

ABSTRACT

We report the case of a 28-year-old man with X-linked retinoschisis (XLRS) and type I diabetes mellitus. The patient had bilateral foveoschisis with a tractional retinal fold in the right eye. Optical coherence tomography (OCT) revealed hyperreflective material within the inner nuclear and outer plexiform layers, photoreceptor atrophy, and retinal pigment epithelium irregularities in both eyes. Fluorescein angiography showed hyperfluorescent foveal spots corresponding to the hyperreflective material observed on OCT. This is a unique presentation of XLRS, with concurrent foveoschisis and photoreceptor atrophy in both eyes. The hyperreflective material on OCT serves as a distinctive feature of XLRS. [Ophthalmic Surg Lasers Imaging Retina 2023;54:603-606.].


Subject(s)
Diabetes Mellitus, Type 1 , Retinoschisis , Male , Humans , Adult , Retinoschisis/diagnosis , Retinoschisis/etiology , Retinoschisis/pathology , Diabetes Mellitus, Type 1/pathology , Retina/pathology , Fovea Centralis/pathology , Tomography, Optical Coherence/methods , Atrophy/pathology
20.
J Vitreoretin Dis ; 7(5): 455-458, 2023.
Article in English | MEDLINE | ID: mdl-37706088

ABSTRACT

Purpose: To present 2 cases of premature newborns with hyperbilirubinemia and retinopathy of prematurity (ROP) who could not be examined properly to assess for disease progression because of vitreous opacification in the setting of an icteric vitreous and frail health status. Methods: The cases and their findings were analyzed. Results: Given the sickness of the neonates and examination difficulty, intravitreal bevacizumab was administered in both eyes to prevent disease progression. During subsequent examinations, the patients remained stable until discharge from the neonatal intensive care unit and were followed in the outpatient clinic without complication. Conclusions: The ROP and vitreous opacification in our cases were thought to be caused by hyperbilirubinemia. Because of vitreous opacification, these patients could not be properly examined for ROP. Treatment with an intravitreal antivascular endothelial growth factor injection might be considered to delay disease development until the newborn is healthier and able to be examined.

SELECTION OF CITATIONS
SEARCH DETAIL
...