Straatsma syndrome: unilateral myelinated retinal nerve fibre layer, high myopia, strabismus and amblyopia

Jain, Mayank; Sharon, Jalli Monica; Anjanamurthy, Rupa; Wijesinghe, Hiruni Kaushalya

doi:10.1136/bcr-2021-244362

Cited by 3 publications

(4 citation statements)

References 4 publications

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“…Retina sinir lifi tabakasının miyelinizasyonu benign bir durumdur ve görme keskinliğini etkilemez, ancak ambliyopi ve şaşılık gelişimiyle ilişkili olabilir. 13 Bu sendromun pediatristler ve oftalmologlar tarafından erken teşhisi, ileri yaşlarda derin ambliyopi gelişimini önleyebilir. 13 Tedavide full optik düzeltme ve ambliyopi tedavisi için tek taraflı göz kapama önerilmektedir.…”

Section: Olgu Sunumuunclassified

“…13 Bu sendromun pediatristler ve oftalmologlar tarafından erken teşhisi, ileri yaşlarda derin ambliyopi gelişimini önleyebilir. 13 Tedavide full optik düzeltme ve ambliyopi tedavisi için tek taraflı göz kapama önerilmektedir. 13 Literatürde, matür katarakt birlikteliğinde Straatsma sendromu bulunmaması, olgumuzu diğer olgulardan ayırmaktadır.…”

Section: Olgu Sunumuunclassified

“…13 Tedavide full optik düzeltme ve ambliyopi tedavisi için tek taraflı göz kapama önerilmektedir. 13 Literatürde, matür katarakt birlikteliğinde Straatsma sendromu bulunmaması, olgumuzu diğer olgulardan ayırmaktadır. Hastanın başarılı bir katarakt operasyonu geçirmesine rağmen vizyonun beklenen şekilde artmaması ambliyopiye bağlıdır ve tanımızı desteklemektedir.…”

Section: Olgu Sunumuunclassified

See 2 more Smart Citations

An Incidentally Detected Straatsma Syndrome Case After Mature Cataract Surgery

Şimşek¹,

MUTAF²,

HÜZMELİ³

et al. 2022

Turkiye Klinikleri J Ophthalmol

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Miyelinli retina sinir lifleri [myelinated retinal nerve fibres (MRNF)], retina detaylarını gizleyen, tüylü kenarları olan, gri-beyaz opak lezyonlar olarak görülen nadir konjenital anomalilerdendir. Optik diskte veya retinanın başka bir yerinde bulunabilirler. 1 MRNF, hastaların yaklaşık %1'inde bulunur ve ilk olarak Alman patolog Virchow tarafından tanımlanmıştır. 2,3 Etkilenen hastaların yaklaşık %7'sinde bilateral tutulum saptanmıştır. MRNF, tipik olarak doğumda ortaya çıkar ve saptanan lezyonlar genellikle ilerleyici değildir. Edinilmiş veya progresif olduğu nadir olarak bildirilmiştir. 3,4 MRNF'nin patogenezi tam olarak aydınlatılamamıştır. Oligodentrositler, santral sinir sistemindeki ana glial hücrelerden biridir ve santral sinir sistemindeki nöronların miyelinizasyonundan sorumludur. Bu da aksonlar boyunca sinyallerin iletimini yalıtır ve

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Section: Olgu Sunumuunclassified

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An Incidentally Detected Straatsma Syndrome Case After Mature Cataract Surgery

Şimşek¹,

MUTAF²,

HÜZMELİ³

et al. 2022

Turkiye Klinikleri J Ophthalmol

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“…The patient, a 15-year-old Caucasian male, was in good health with no apparent major neurological findings. The right eye was within normal limits; the left eye was affected by MRNFL, myopia, and amblyopia (Straatsma syndrome [4,5]). Electrophysiological tests conducted according to the International Society for Clinical Electrophysiology of Vision (ISCEV) protocol showed reduced pattern electroretinogram (PERG) amplitudes and increased latencies in the affected eye compared to normal values.…”

mentioning

confidence: 99%

Non-Invasive High-Resolution Imaging of In Vivo Human Myelinated Axons

Lombardo,

Cesareo,

Falsini

et al. 2024

Diagnostics

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This work aims to reveal the microscopic (2–3 micrometer resolution) appearance of human myelinated nerve fibers in vivo for the first time. We analyzed the myelinated retinal nerve fibers of a male patient without other neurological disorders in a non-invasive way using the transscleral optical phase imaging method with adaptive optics. We also analyzed the fellow eye with non-myelinated nerve fibers and compared the results with traditional ocular imaging methods such as optical coherence tomography. We documented the microscopic appearance of human myelin and myelinated axons in vivo. This method allowed us to obtain better details than through traditional ocular imaging methods. We hope these findings will be useful to the scientific community to evaluate neuro-retinal structures through new imaging techniques and more accurately document nerve anatomy and the pathophysiology of this disease.

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Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia

Jiang,

Xiao,

Sun

et al. 2024

J Transl Med

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Backgrounds Unilateral high myopia (uHM), commonly observed in patients with retinal diseases or only with high myopia, is frequently associated with amblyopia with poor prognosis. This study aims to reveal the clinical and genetic spectrum of uHM in a large Chinese cohort. Methods A total of 75 probands with simplex uHM were included in our Pediatric and Genetic Eye Clinic. Patients with significant posterior anomalies other than myopic fundus changes were excluded. Variants were detected by exome sequencing and then analyzed through multiple-step bioinformatic and co-segregation analysis and finally confirmed by Sanger sequencing. Genetic findings were correlated with associated clinical data for analysis. Results Among the 75 probands with a mean age of 6.21 ± 4.70 years at the presentation, myopic fundus of C1 and C2 was observed in 73 (97.3%) probands. Surprisingly, specific peripheral changes were identified in 63 eyes involving 36 (48.0%) probands after extensive examination, including peripheral retinal avascular zone (74.6%, 47/63 eyes), neovascularization (54.0%), fluorescein leakage (31.7%), peripheral pigmentary changes (31.7%), and others. Exome sequencing identified 21 potential pathogenic variants of 13 genes in 20 of 75 (26.7%) probands, including genes for Stickler syndrome (COL11A1 and COL2A1; 6/20), FEVR (FZD4, LRP5, and TSPAN12; 5/20), and others (FBN1, GPR179, ZEB2, PAX6, GPR143, OPN1LW, FRMD7, and CACNA1F; 9/20). For the peripheral retinal changes in the 20 probands, variants in Stickler syndrome-related genes were predominantly associated with retinal pigmentary changes, lattice degeneration, and retinal avascular region, while variants in genes related to FEVR were mainly associated with the avascular zone, neovascularization, and fluorescein leakage. Conclusions Genetic defects were identified in about one-fourth of simplex uHM patients in which significant consequences may be hidden under a classic myopic fundus in up to half. To our knowledge, this is the first systematic genetic study on simplex uHM to date. In addition to routine care of strabismus and amblyopia, careful examination of the peripheral retina and genetic screening is warranted for patients with uHM in order to identify signs of risk for retinal detachment and other complications and provide meaningful genetic counseling.

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Straatsma syndrome: unilateral myelinated retinal nerve fibre layer, high myopia, strabismus and amblyopia

Cited by 3 publications

References 4 publications

An Incidentally Detected Straatsma Syndrome Case After Mature Cataract Surgery

An Incidentally Detected Straatsma Syndrome Case After Mature Cataract Surgery

Non-Invasive High-Resolution Imaging of In Vivo Human Myelinated Axons

Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia

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