Optic Atrophy in Children

Brodsky, Michael C.

doi:10.1007/978-1-4939-3384-6_4

Cited by 6 publications

(3 citation statements)

References 839 publications

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“…По степени снижения зрительных функций атрофия зрительного нерва подразделяется на полную и частичную (ЧАЗН), а по времени возникновения -на врожденную и приобретенную. Причиной врожденной ЧАЗН часто является перинатальная патология: внутриутробная инфекция, ишемически-гипоксическая энцефалопатия, гидроцефально-гипертензионный синдром, внутричерепные кровоизлияния при тяжелом родоразрешении, кровоизлияния в оболочки зрительного нерва и сетчатку, хроническая гипоксия и вторичные нарушения микроциркуляции тканей глаза и мозговых структур [1][2][3][4][5].…”

Section: резюме офтальмология 2024;21(1):152-161unclassified

Results of Quantitative and Qualitative Assessment of Color Vision in Patients with Congenital Partial Atrophy of the Optic Nerve

Rychkova,

Likhvantseva,

Sandimirov

2024

Oftalʹmologiâ

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Background. Congenital partial atrophy of the optic nerve is one of the main causes of blindness and low vision in patients with fundus pathology, and the study of color vision is important in diagnosis and monitoring visual functions in patients with this disease.Purpose: to study the possibilities of using the own developed method of quantitative and qualitative assessment of color vision in patients with partial optic nerve atrophy.Materials and methods. 55 patients aged from 8 to 20 years with congenital partial atrophy of the optic nerve (PAON) with a typical fundus pattern and EFI indicators for this disease were observed. The control group included 116 people of the same age without fundus pathology and with normal visual acuity. To study color vision in both groups, the classic FarnsworthMunsell Dichotomous D15 Test and the own developed method for quantitative and qualitative assessment of color vision were used.Results. The method developed by us made it possible to identify color perception disorders of varying severity in the majority (about 90 %) of patients with PAON. In the control group, no color perception disorders were detected in more than 70 % of the subjects. Quantitative assessment of color vision conducted using the method developed by us demonstrates significantly higher indicators of the total error of perception of color tones in patients with PAON (35.6 ± 3.2 degrees for a better-seeing eye and 39.9 ± 3.3 degrees for a worse-seeing eye) in comparison with the subjects of the control group (6.2 ± 1.1 degrees for a better-seeing eye and 7.5 ± 1.3 degrees for a worse-seeing eye). The severity of color perception disorders in patients with PAON does not depend on age, but has a significant inverse relationship with visual acuity. In the group of patients with PAON, when examining both better-seeing eye and worse-seeing eye, perception disorders of all color tones are detected with a slight predominance of disorders of perception of red, green and blue. The method developed by us has sufficiently higher sensitivity and specificity in comparison with the classic Farnsworth-Mansell D-15 test.Conclusion. The method developed by us makes it possible to effectively carry out a quantitative and qualitative assessment of the state of color perception in patients with PAON.

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Section: резюме офтальмология 2024;21(1):152-161unclassified

Results of Quantitative and Qualitative Assessment of Color Vision in Patients with Congenital Partial Atrophy of the Optic Nerve

Rychkova,

Likhvantseva,

Sandimirov

2024

Oftalʹmologiâ

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“…This condition is the end result of injury to either the retinal ganglion cells, retinal nerve fiber layer, optic nerve, optic chiasm, or optic tract, and it is caused by various factors such as hereditary, metabolic, radiation-induced, malnutrition-induced, toxic, ischemic, inflammatory, or infiltrative lesions. In patients with optic atrophy, the pertinent history and ophthalmological findings (onset of symptoms, optic disc appearance, pattern of visual field loss, and color vision deficiency) may suggest specific causes of optic atrophy, but not all cases are readily classifiable ( 2 ). Defining the cause of optic atrophy in children is more difficult since complete ophthalmological assessments and recording clinical history are sometimes challenging.…”

Section: Introductionmentioning

confidence: 99%

“…To successfully diagnose this condition, first, a thorough gestational, prenatal, and neonatal history is essential because periventricular leukomalacia, intraventricular hemorrhage, or hydrocephalus can cause transsynaptic retrograde degeneration of the optic nerve ( 3 ). In addition, a previous history of head trauma, encephalitis, meningitis, malnutrition, or medications (e.g., vigabatrin and ethambutol) should be specifically elicited ( 2 , 4 ). If no causes of optic atrophy are found in the history or clinical investigation, hereditary causes should be investigated.…”

Section: Introductionmentioning

confidence: 99%

Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy

Seo

Kim²,

Won³

et al. 2022

Front. Neurol.

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AimsTo evaluate the clinical characteristics and causative genetic variants in autosomal optic atrophy diagnosed using next-generation sequencing (NGS).MethodsA cohort of 57 unrelated families affected with bilateral optic atrophy were recruited from two university-based tertiary referral hospitals from May 2016 to April 2022. Genetic variants were detected using a target enrichment panel consisting of 429 or 595 genes and known deep intronic variants associated with inherited eye diseases, exome sequencing, or genome sequencing. The results of detailed clinical examinations, disease-causing variants, and clinical diagnoses were analyzed.ResultsAmong the 57 probands, 33 (57.9%) were men, and the median age at genetic testing was 19.1 years (interquartile range, 7.6–42.5 years). We identified 22 likely causative variants in 18 families and corresponding diagnostic yields of 31.6% (95% confidence interval, 21.0–44.5%). The diagnostic rate of NGS was higher in patients with infantile or early childhood onset optic atrophy than in those with late-onset or unknown optic atrophy (18/39, 46.2% vs. 0/18, 0%, P < 0.001). Among the 22 variants, 15 were novel in our cohort. The OPA1 variants (n = 7) were found to be the major genetic causes, followed by the NR2F1 variant (n = 4). The causative variants in PTPN23, TMEM126A, NBAS, and WFS1 genes were identified in 4 probands with a recessive form of optic atrophy.ConclusionsBased on the results of diagnostic NGS for optic atrophy, the causative variant could be detected in 31.6% of patients. Our study also demonstrated that NGS is unlikely to help identify molecular causes in late-onset unexplained optic atrophy.

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A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

Fukunaga,

Hayashi,

Yamada

et al. 2023

Ophthalmic Genetics

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Optic Atrophy in Children

Cited by 6 publications

References 839 publications

Results of Quantitative and Qualitative Assessment of Color Vision in Patients with Congenital Partial Atrophy of the Optic Nerve

Results of Quantitative and Qualitative Assessment of Color Vision in Patients with Congenital Partial Atrophy of the Optic Nerve

Genetic spectrum and characteristics of autosomal optic neuropathy in Korean: Use of next-generation sequencing in suspected hereditary optic atrophy

A novel stop-gain NF1 variant in neurofibromatosis type 1 and bilateral optic atrophy without optic gliomas

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