Pub Date : 2024-05-01Epub Date: 2023-12-19DOI: 10.3928/01913913-20231026-03
Mary-Katharine Pontarelli, Jennifer S Zeiger, Vijitha S Vempuluru, Drew H Scoles, Carol L Shields
{"title":"Multifocal White Retinal Lesions in a Young Boy.","authors":"Mary-Katharine Pontarelli, Jennifer S Zeiger, Vijitha S Vempuluru, Drew H Scoles, Carol L Shields","doi":"10.3928/01913913-20231026-03","DOIUrl":"10.3928/01913913-20231026-03","url":null,"abstract":"","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":" ","pages":"224"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138810525","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2023-12-19DOI: 10.3928/01913913-20231120-01
Nir Erdinest, Maya Atar-Vardi, Itay Lavy, Naomi London, David Landau, Eran Pras, Yair Morad
Purpose: To ascertain the effectiveness of 0.01% atropine treatment to inhibit myopia progression and the possible additive potency with peripheral defocus contact lenses over 3 years and the rebound effect 1 year after cessation of treatment.
Methods: This prospective study included 127 children aged 8 to 5 years, divided into three treatment groups: 0.01% atropine and single-vision spectacles (At+SV, n = 36), 0.01% atropine and peripheral defocus contact lens (At+PDCL, n = 30), and 0.01% atropine and dual-focus contact lens (At+DF, n = 25). A control group was prescribed single-vision spectacles (n = 36). Cycloplegic spherical equivalence refraction was measured every 6 months during 3 years of treatment and 1 year after cessation.
Results: Myopia progression decreased over 3 years of treatment, more during the second and third years than the first year, to a statistically significant degree in the atropine groups (P < .01): in the first, second, and third years, respectively, -0.42 ± 0.34, -0.19 ± 0.18, -0.22 ± 0.19 diopters (D) in the At+SV group, -0.26 ± 0.21, -0.14 ± 0.37, and -0.15 ± 0.31 D in the At+PDCL group, and -0.22 ± 0.15, -0.15 ± 0.22, and -0.11 ± 0.14 D in the At+DF group. Myopia progressed 1 year after cessation of treatment: -0.29 ± 0.28 D in the At+SV group, -0.13 ± 0.28 D in the At+PDCL group, and -0.09 ± 0.18 D in the At+DF group. After 3 years, there was no statistically significant difference in myopia progression between the At+SV and At+PDCL or At+DF groups (P < .05).
Conclusions: Low-dose atropine has been substantiated in this cohort as an effective treatment to decelerate myopia progression over 3 years, more effective in the second and third years of treatment. The combination treatment did not exhibit a statistically significant advantage over monotherapy in this cohort. The At+DF group exhibited a statistically lower rebound effect than the At+SV group. [J Pediatr Ophthalmol Strabismus. 2024;61(3):204-210.].
{"title":"Effective Decrease in Myopia Progression With Two Mechanisms of Management.","authors":"Nir Erdinest, Maya Atar-Vardi, Itay Lavy, Naomi London, David Landau, Eran Pras, Yair Morad","doi":"10.3928/01913913-20231120-01","DOIUrl":"10.3928/01913913-20231120-01","url":null,"abstract":"<p><strong>Purpose: </strong>To ascertain the effectiveness of 0.01% atropine treatment to inhibit myopia progression and the possible additive potency with peripheral defocus contact lenses over 3 years and the rebound effect 1 year after cessation of treatment.</p><p><strong>Methods: </strong>This prospective study included 127 children aged 8 to 5 years, divided into three treatment groups: 0.01% atropine and single-vision spectacles (At+SV, n = 36), 0.01% atropine and peripheral defocus contact lens (At+PDCL, n = 30), and 0.01% atropine and dual-focus contact lens (At+DF, n = 25). A control group was prescribed single-vision spectacles (n = 36). Cycloplegic spherical equivalence refraction was measured every 6 months during 3 years of treatment and 1 year after cessation.</p><p><strong>Results: </strong>Myopia progression decreased over 3 years of treatment, more during the second and third years than the first year, to a statistically significant degree in the atropine groups (<i>P</i> < .01): in the first, second, and third years, respectively, -0.42 ± 0.34, -0.19 ± 0.18, -0.22 ± 0.19 diopters (D) in the At+SV group, -0.26 ± 0.21, -0.14 ± 0.37, and -0.15 ± 0.31 D in the At+PDCL group, and -0.22 ± 0.15, -0.15 ± 0.22, and -0.11 ± 0.14 D in the At+DF group. Myopia progressed 1 year after cessation of treatment: -0.29 ± 0.28 D in the At+SV group, -0.13 ± 0.28 D in the At+PDCL group, and -0.09 ± 0.18 D in the At+DF group. After 3 years, there was no statistically significant difference in myopia progression between the At+SV and At+PDCL or At+DF groups (<i>P</i> < .05).</p><p><strong>Conclusions: </strong>Low-dose atropine has been substantiated in this cohort as an effective treatment to decelerate myopia progression over 3 years, more effective in the second and third years of treatment. The combination treatment did not exhibit a statistically significant advantage over monotherapy in this cohort. The At+DF group exhibited a statistically lower rebound effect than the At+SV group. <b>[<i>J Pediatr Ophthalmol Strabismus</i>. 2024;61(3):204-210.]</b>.</p>","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":" ","pages":"204-210"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138810522","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2023-10-26DOI: 10.3928/1081597X-20230829-01
Kara C LaMattina, Mercedes Frick, Matilde López, Alejandra Tártara, Erika Hurtado, Ariel Schlaen, Cristobal Couto
Purpose: To explore the geographic variability of the epidemiology of pediatric uveitis, which, although rare in children, carries a significant risk of morbidity.
Methods: This was a retrospective review conducted at two tertiary referral centers in Buenos Aires, Argentina. Demographic and clinical data of patients younger than 16 years diagnosed as having uveitis between January 1, 2006 and October 1, 2014 were collected.
Results: A total of 257 patients (380 eyes) were included in the study. Cases tended to be unilateral (134, 52.1%), granulomatous (146, 56.8%), and localized to the posterior segment (121, 47.1%). Toxoplasmosis was the most common etiology (98, 38.1%).
Discussion: The spectrum of pediatric uveitis in Buenos Aires most closely resembles that of Colombia. Understanding these geographic variations is important to aid providers who are caring for children in an increasingly globalized world. [J Pediatr Ophthalmol Strabismus. 2024;61(3):183-187.].
{"title":"Epidemiology of Pediatric Uveitis in Argentina.","authors":"Kara C LaMattina, Mercedes Frick, Matilde López, Alejandra Tártara, Erika Hurtado, Ariel Schlaen, Cristobal Couto","doi":"10.3928/1081597X-20230829-01","DOIUrl":"10.3928/1081597X-20230829-01","url":null,"abstract":"<p><strong>Purpose: </strong>To explore the geographic variability of the epidemiology of pediatric uveitis, which, although rare in children, carries a significant risk of morbidity.</p><p><strong>Methods: </strong>This was a retrospective review conducted at two tertiary referral centers in Buenos Aires, Argentina. Demographic and clinical data of patients younger than 16 years diagnosed as having uveitis between January 1, 2006 and October 1, 2014 were collected.</p><p><strong>Results: </strong>A total of 257 patients (380 eyes) were included in the study. Cases tended to be unilateral (134, 52.1%), granulomatous (146, 56.8%), and localized to the posterior segment (121, 47.1%). Toxoplasmosis was the most common etiology (98, 38.1%).</p><p><strong>Discussion: </strong>The spectrum of pediatric uveitis in Buenos Aires most closely resembles that of Colombia. Understanding these geographic variations is important to aid providers who are caring for children in an increasingly globalized world. <b>[<i>J Pediatr Ophthalmol Strabismus</i>. 2024;61(3):183-187.]</b>.</p>","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":" ","pages":"183-187"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50163374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2023-12-19DOI: 10.3928/01913913-20231026-05
Karen E Lee, Jake A Sussberg, Leonard B Nelson, Tobin B T Thuma
Purpose: To explore the association between race and socioeconomic status on health disparities in pediatric eye care, characterize the status of diversity within the pediatric ophthalmology workforce, and propose potential solutions to improve access to vision care, particularly for children from vulnerable populations.
Methods: The major studies examining the socioeconomic and racial disparities in visual outcomes and the impact of diversity in the ophthalmology workforce were reviewed.
Results: Currently, the pediatric ophthalmology workforce has limited racial diversity, and increasing the number of underrepresented in medicine providers has potential to improve access to pediatric eye care, particularly for underserved populations. Mobile eye clinics, school-based vision programs, and health literacy initiatives may engage communities to bring eye care directly to children and enhance follow-up.
Conclusions: Families with lower socioeconomic status may represent a vulnerable population facing significant access to pediatric eye care barriers, particularly for asymptomatic pediatric eye conditions. Emphasis on strategies that directly engage communities and bring free vision care to families should be given to improve disparities in visual health outcomes. Ophthalmologists and pediatric ophthalmologists should be aware of the current racial underrepresentation within the pediatric ophthalmology workforce, and the importance of workforce diversity in accelerating physician-patient concordance and access to eye care. [J Pediatr Ophthalmol Strabismus. 2024;61(3):172-178.].
{"title":"Review of the Disparities in Access to Pediatric Eye Care Among Low Socioeconomic Status and Underrepresented Racial Minority Groups Exacerbated by the Economic Downturn in Pediatric Ophthalmology.","authors":"Karen E Lee, Jake A Sussberg, Leonard B Nelson, Tobin B T Thuma","doi":"10.3928/01913913-20231026-05","DOIUrl":"10.3928/01913913-20231026-05","url":null,"abstract":"<p><strong>Purpose: </strong>To explore the association between race and socioeconomic status on health disparities in pediatric eye care, characterize the status of diversity within the pediatric ophthalmology workforce, and propose potential solutions to improve access to vision care, particularly for children from vulnerable populations.</p><p><strong>Methods: </strong>The major studies examining the socioeconomic and racial disparities in visual outcomes and the impact of diversity in the ophthalmology workforce were reviewed.</p><p><strong>Results: </strong>Currently, the pediatric ophthalmology workforce has limited racial diversity, and increasing the number of underrepresented in medicine providers has potential to improve access to pediatric eye care, particularly for underserved populations. Mobile eye clinics, school-based vision programs, and health literacy initiatives may engage communities to bring eye care directly to children and enhance follow-up.</p><p><strong>Conclusions: </strong>Families with lower socioeconomic status may represent a vulnerable population facing significant access to pediatric eye care barriers, particularly for asymptomatic pediatric eye conditions. Emphasis on strategies that directly engage communities and bring free vision care to families should be given to improve disparities in visual health outcomes. Ophthalmologists and pediatric ophthalmologists should be aware of the current racial underrepresentation within the pediatric ophthalmology workforce, and the importance of workforce diversity in accelerating physician-patient concordance and access to eye care. <b>[<i>J Pediatr Ophthalmol Strabismus</i>. 2024;61(3):172-178.]</b>.</p>","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":" ","pages":"172-178"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138810691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-01-26DOI: 10.3928/01913913-20240108-01
Victoria Vought, Rita Vought, Rahul Sharma, Geena Razdan, Lyndon Zhu, Riya Sutariya, Rudolph S Wagner
Purpose: To assess patient satisfaction within pediatric ophthalmology and identify trends in patient sentiment.
Methods: Pediatric ophthalmologists in the United States were identified using the American Association for Pediatric Ophthalmology and Strabismus member directory. Demographic data were recorded using publicly available websites. Online written reviews and Stars ratings were obtained from Healthgrades.com. A sentiment analysis package, Valence Aware Dictionary for Sentimental Reasoning (VADER), was used to generate a compound score of reviews, and word frequency analyses were applied.
Results: A total of 377 pediatric ophthalmologists (2,640 online reviews) were evaluated. Physicians received an average of 4.22/5 Stars and a compound sentiment score of 0.56, indicating positive sentiment. No differences in scores were observed by gender or location, although physicians with fewer years in practice had higher Stars ratings compared to peers (P < .001). The three most common words in the word frequency analysis of all reviews were "surgery," "staff," and "time," with heavy emphasis on bedside manner and addressing patient concerns.
Conclusions: This study demonstrates overall high patient satisfaction in pediatric ophthalmology care, with differences in sentiment based on physician demographic features. The study highlights that patient perspective is influenced by non-clinical features of care. These data may be used by pediatric ophthalmologists seeking to improve health care delivery. [J Pediatr Ophthalmol Strabismus. 2024;61(3):211-218.].
{"title":"Evaluating Pediatric Ophthalmic Care Using Sentiment Analysis of Physician Review Sites.","authors":"Victoria Vought, Rita Vought, Rahul Sharma, Geena Razdan, Lyndon Zhu, Riya Sutariya, Rudolph S Wagner","doi":"10.3928/01913913-20240108-01","DOIUrl":"10.3928/01913913-20240108-01","url":null,"abstract":"<p><strong>Purpose: </strong>To assess patient satisfaction within pediatric ophthalmology and identify trends in patient sentiment.</p><p><strong>Methods: </strong>Pediatric ophthalmologists in the United States were identified using the American Association for Pediatric Ophthalmology and Strabismus member directory. Demographic data were recorded using publicly available websites. Online written reviews and Stars ratings were obtained from Healthgrades.com. A sentiment analysis package, Valence Aware Dictionary for Sentimental Reasoning (VADER), was used to generate a compound score of reviews, and word frequency analyses were applied.</p><p><strong>Results: </strong>A total of 377 pediatric ophthalmologists (2,640 online reviews) were evaluated. Physicians received an average of 4.22/5 Stars and a compound sentiment score of 0.56, indicating positive sentiment. No differences in scores were observed by gender or location, although physicians with fewer years in practice had higher Stars ratings compared to peers (<i>P</i> < .001). The three most common words in the word frequency analysis of all reviews were \"surgery,\" \"staff,\" and \"time,\" with heavy emphasis on bedside manner and addressing patient concerns.</p><p><strong>Conclusions: </strong>This study demonstrates overall high patient satisfaction in pediatric ophthalmology care, with differences in sentiment based on physician demographic features. The study highlights that patient perspective is influenced by non-clinical features of care. These data may be used by pediatric ophthalmologists seeking to improve health care delivery. <b>[<i>J Pediatr Ophthalmol Strabismus</i>. 2024;61(3):211-218.]</b>.</p>","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":" ","pages":"211-218"},"PeriodicalIF":1.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139565210","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2024-01-26DOI: 10.3928/01913913-20231221-01
Thomas Weatherby, Ian Marsh
Purpose: To report a relatively new surgical treatment for near exotropia called medial rectus inferior half plication.
Methods: This was a retrospective analysis of the outcomes from a single surgeon performing a plication of the inferior half of the medial rectus muscle in 17 consecutive patients with near exotropia unresponsive to medial rectus bupivacaine injection.
Results: Thirteen of 17 (76%) patients were asymptomatic after surgery with no diplopia for near fixation and with either a normal or slightly reduced prism fusion range enabling them to have comfortable binocular single vision. There was one minor surgical overcorrection with distance diplopia that disappeared within 2 weeks of surgery. Of the 4 of 17 (24%) patients who required further intervention, 3 required one further surgical procedure and 1 required an injection of bupivacaine into the contralateral medial rectus muscle to obtain a satisfactory alignment and control of symptoms. No patient needed more than two total operations.
Conclusions: The data show medial rectus inferior plication can produce excellent outcomes with minimal risk of overcorrection. [J Pediatr Ophthalmol Strabismus. 2024;61(3):219-222.].
{"title":"Medial Rectus Inferior Half Plication for the Treatment of Near Exotropia.","authors":"Thomas Weatherby, Ian Marsh","doi":"10.3928/01913913-20231221-01","DOIUrl":"10.3928/01913913-20231221-01","url":null,"abstract":"<p><strong>Purpose: </strong>To report a relatively new surgical treatment for near exotropia called medial rectus inferior half plication.</p><p><strong>Methods: </strong>This was a retrospective analysis of the outcomes from a single surgeon performing a plication of the inferior half of the medial rectus muscle in 17 consecutive patients with near exotropia unresponsive to medial rectus bupivacaine injection.</p><p><strong>Results: </strong>Thirteen of 17 (76%) patients were asymptomatic after surgery with no diplopia for near fixation and with either a normal or slightly reduced prism fusion range enabling them to have comfortable binocular single vision. There was one minor surgical overcorrection with distance diplopia that disappeared within 2 weeks of surgery. Of the 4 of 17 (24%) patients who required further intervention, 3 required one further surgical procedure and 1 required an injection of bupivacaine into the contralateral medial rectus muscle to obtain a satisfactory alignment and control of symptoms. No patient needed more than two total operations.</p><p><strong>Conclusions: </strong>The data show medial rectus inferior plication can produce excellent outcomes with minimal risk of overcorrection. <b>[<i>J Pediatr Ophthalmol Strabismus</i>. 2024;61(3):219-222.]</b>.</p>","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":" ","pages":"219-222"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139565268","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01Epub Date: 2023-10-26DOI: 10.3928/01913913-20231005-01
Marlee Silverstein, Catherine O Jordan, Shawn C Aylward, Hilliary Inger
Purpose: To review the neuro-ophthalmic manifestations of Lyme disease at a central Ohio pediatric tertiary care center.
Methods: A retrospective chart review of patients diagnosed as having Lyme disease from September 2015 to September 2020 was completed. Demographic information, diagnosis dates, and manifestations of Lyme disease were recorded. Patients were excluded for age older than 18 years or lack of corroborated Lyme disease diagnosis. Descriptive statistics were performed.
Results: Of the 212 cases of pediatric Lyme disease reviewed, 50 patients had neuroborreliosis. The data showed an increase in Lyme disease and neuroborreliosis cases from 2018 to 2020, with a preponderance of diagnoses in the summer months. Twenty-four patients had meningitis, and 6 of these patients (25%) were diagnosed as having bilateral optic disc edema that was clinically consistent with intracranial hypertension.
Conclusions: Papilledema in the setting of Lyme meningitis may be more common than previously reported in central Ohio. If Lyme disease meningitis is suspected, an opening pressure should be recorded at the time of lumbar puncture and, if elevated, an ophthalmologic evaluation for optic nerve edema is indicated. [J Pediatr Ophthalmol Strabismus. 2024;61(3):179-182.].
{"title":"Yearly Occurrence and Seasonality of Neuro-ophthalmic Manifestations of Pediatric Lyme Disease.","authors":"Marlee Silverstein, Catherine O Jordan, Shawn C Aylward, Hilliary Inger","doi":"10.3928/01913913-20231005-01","DOIUrl":"10.3928/01913913-20231005-01","url":null,"abstract":"<p><strong>Purpose: </strong>To review the neuro-ophthalmic manifestations of Lyme disease at a central Ohio pediatric tertiary care center.</p><p><strong>Methods: </strong>A retrospective chart review of patients diagnosed as having Lyme disease from September 2015 to September 2020 was completed. Demographic information, diagnosis dates, and manifestations of Lyme disease were recorded. Patients were excluded for age older than 18 years or lack of corroborated Lyme disease diagnosis. Descriptive statistics were performed.</p><p><strong>Results: </strong>Of the 212 cases of pediatric Lyme disease reviewed, 50 patients had neuroborreliosis. The data showed an increase in Lyme disease and neuroborreliosis cases from 2018 to 2020, with a preponderance of diagnoses in the summer months. Twenty-four patients had meningitis, and 6 of these patients (25%) were diagnosed as having bilateral optic disc edema that was clinically consistent with intracranial hypertension.</p><p><strong>Conclusions: </strong>Papilledema in the setting of Lyme meningitis may be more common than previously reported in central Ohio. If Lyme disease meningitis is suspected, an opening pressure should be recorded at the time of lumbar puncture and, if elevated, an ophthalmologic evaluation for optic nerve edema is indicated. <b>[<i>J Pediatr Ophthalmol Strabismus</i>. 2024;61(3):179-182.]</b>.</p>","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":" ","pages":"179-182"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"50163377","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.3928/01913913-20240314-02
Banu Bozkurt, Ramazan Güler, Ebru Marzioğlu Özdemir, Deniz Esin, Şaban Gönül
A 6-month-old female infant with megalophthalmos was referred with the suspicion of congenital glaucoma. Refractive measurements obtained with handheld autorefractometry were -7.00 -2.00 × 90° in the right eye and -6.00 -2.00 × 100° in the left eye and ultrasonic axial lengths were 22.50 mm in both eyes. Intraocular pressures and vertical and horizontal corneal diameters of the proband were 11 mm Hg, 11 mm, and 11.50 mm in both eyes, respectively. She was diagnosed as having early-onset high myopia. Her father also had degenerative high myopia (-12.00 diopters) in the right eye, bilateral congenital lens opacities, and retinal detachment in the left eye. Her mother was emmetropic with normal eye examination results. Clinical exome sequencing analysis revealed a novel ENST00000380518.3 c.3528_3530 delins GACCATTAGCA (Chr12:48369813: GCA > TGCTAATGGTC) variant in the collagen type II alpha 1 chain (COL2A1) on chromosome 12q13 (OMIM 108300), consistent with the Stickler syndrome type 1. Subsequent segregation analysis revealed paternal inheritance. Although many pathogenic null variants have been described within the COL2A1 gene, there is currently no documented literature pertaining to this specific variant, making this the inaugural report of its manifestation in scientific discourse. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e23-e27.].
{"title":"A Novel <i>COL2A1</i> Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.","authors":"Banu Bozkurt, Ramazan Güler, Ebru Marzioğlu Özdemir, Deniz Esin, Şaban Gönül","doi":"10.3928/01913913-20240314-02","DOIUrl":"10.3928/01913913-20240314-02","url":null,"abstract":"<p><p>A 6-month-old female infant with megalophthalmos was referred with the suspicion of congenital glaucoma. Refractive measurements obtained with handheld autorefractometry were -7.00 -2.00 × 90° in the right eye and -6.00 -2.00 × 100° in the left eye and ultrasonic axial lengths were 22.50 mm in both eyes. Intraocular pressures and vertical and horizontal corneal diameters of the proband were 11 mm Hg, 11 mm, and 11.50 mm in both eyes, respectively. She was diagnosed as having early-onset high myopia. Her father also had degenerative high myopia (-12.00 diopters) in the right eye, bilateral congenital lens opacities, and retinal detachment in the left eye. Her mother was emmetropic with normal eye examination results. Clinical exome sequencing analysis revealed a novel ENST00000380518.3 c.3528_3530 delins GACCATTAGCA (Chr12:48369813: GCA > TGCTAATGGTC) variant in the collagen type II alpha 1 chain (<i>COL2A1</i>) on chromosome 12q13 (OMIM 108300), consistent with the Stickler syndrome type 1. Subsequent segregation analysis revealed paternal inheritance. Although many pathogenic null variants have been described within the <i>COL2A1</i> gene, there is currently no documented literature pertaining to this specific variant, making this the inaugural report of its manifestation in scientific discourse. <b>[<i>J Pediatr Ophthalmol Strabismus.</i> 2024;61(3):e23-e27.]</b>.</p>","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":"61 3","pages":"e23-e27"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141093988","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.3928/01913913-20240418-01
Leonard B Nelson
{"title":"Issues in Delivering Pediatric Eye Care to Financially Disadvantaged and Underrepresented Minority Groups.","authors":"Leonard B Nelson","doi":"10.3928/01913913-20240418-01","DOIUrl":"https://doi.org/10.3928/01913913-20240418-01","url":null,"abstract":"","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":"61 3","pages":"156"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141094162","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-01DOI: 10.3928/01913913-20240404-01
Judith Lavrich, Nils Mungan, Frederick M Wang, Leonard B Nelson
{"title":"The Economic and Workforce Issues in Pediatric Ophthalmology and Their Effect on Eye Care.","authors":"Judith Lavrich, Nils Mungan, Frederick M Wang, Leonard B Nelson","doi":"10.3928/01913913-20240404-01","DOIUrl":"https://doi.org/10.3928/01913913-20240404-01","url":null,"abstract":"","PeriodicalId":50095,"journal":{"name":"Journal of Pediatric Ophthalmology & Strabismus","volume":"61 3","pages":"157-159"},"PeriodicalIF":1.2,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141094163","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}