Natural History of Conversion of Leber's Hereditary Optic Neuropathy

Hwang, Tiffany; Karanjia, Rustum; Moraes-Filho, Milton N.; Gale, Jesse; Tran, Justin; Chu, Edward; Salomão, Solange Rios; Berezovsky, Adriana; Belfort, Rubens; Moraes, Maria Nathália; Sadun, Federico; DeNegri, Anna Maria; Morgia, Chiara La; Barboni, Piero; Ramos, Carolina do Val Ferreira; Chicani, Carlos Filipe; Quirós, Peter A.; Carelli, Valerio; Sadun, Alfredo A.

doi:10.1016/j.ophtha.2017.01.002

Cited by 66 publications

(50 citation statements)

References 12 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…LHON presents as an acute or subacute loss of central vision that generally progresses within a few months, and affects mostly young males (Hwang et al, 2017). Almost 50% of affected men will suffer significant vision loss compared to only 10% of females (Hwang et al, 2017).…”

Section: Primary Mitochondropathies and Ocular Diseasesmentioning

confidence: 99%

See 1 more Smart Citation

Retinal energy demands control vascular supply of the retina in development and disease: The role of neuronal lipid and glucose metabolism

Joyal

Gantner

Smith

2018

Progress in Retinal and Eye Research

130

110

View full text Add to dashboard Cite

Section: Primary Mitochondropathies and Ocular Diseasesmentioning

confidence: 99%

“…Almost 50% of affected men will suffer significant vision loss compared to only 10% of females (Hwang et al, 2017). The reason for this gender bias is suggested to be related to estrogen effects on mitochondrial DNA (Pisano et al, 2015).…”

Section: Primary Mitochondropathies and Ocular Diseasesmentioning

confidence: 99%

Retinal energy demands control vascular supply of the retina in development and disease: The role of neuronal lipid and glucose metabolism

Joyal

Gantner

Smith

2018

Progress in Retinal and Eye Research

130

110

View full text Add to dashboard Cite

“…While both eyes are affected simultaneously in one half of patients with LHON, the other half of patients experience sequential visual loss, with the second eye becoming involved within weeks to months, and almost always within 1 year. Observational studies of presymptomatic LHON carriers demonstrate subclinical changes on optical coherence tomography (OCT) prior to symptomatic conversion: increase in retinal nerve fiber layer (RNFL) thickness precedes conversion by as much as 4 to 6 months, peaks at conversion, and decreases until individual plateau, 5 while ganglion cell-inner plexiform layer (GC-IPL) thickness shows significant longitudinal thinning during the presymptomatic stage that begins in the inner nasal sector and then progressively extends following a centrifugal and spiral pattern 6 (►Fig. 2).…”

Section: Leber's Hereditary Optic Neuropathymentioning

confidence: 99%

Emerging Treatments for Leber's Hereditary Optic Neuropathy and Other Genetic Causes of Visual Loss

2019

View full text Add to dashboard Cite

Leber's hereditary optic neuropathy (LHON) and other genetic causes of visual loss are important clinical entities that can cause profound visual loss. To date, therapeutic options have been quite limited, but insights into the genetic basis of these diseases and advances in the ability to deliver effective and safe gene therapy have opened the door for new therapeutics that may revolutionize the approach to treating these conditions. This article reviews emerging gene therapies of LHON and other inherited ophthalmological diseases, addressing the technical, clinical, and ethical challenges that researchers and clinicians will encounter as new treatments become available for these conditions.

show abstract

“…Im Rahmen einer Studie zum natürlichen Verlauf von LHON fiel auf, dass bereits vor der subjektiv bemerkten Sehverschlechterung Gesichtsfeldveränderungen zu be-obachten sind [11]. Dies könnte eine Erklärung für den oftmals beobachteten, vergleichsweise geringen relativen afferenten Pupillendefekt nach Manifestation des ersten Auges bei LHON darstellen.…”

Section: Merkeunclassified

Erbliche Sehnerverkrankungen

Rüther¹

2018

Klin Monatsbl Augenheilkd

View full text Add to dashboard Cite

Hereditary optic nerve disorders are rare. For ophthalmologists, Leber's hereditary optic neuropathy (LHON) and autosomal dominant optic atrophy (ADOA) are of particular relevance. LHON and ADOA are diseases of the retinal ganglion cells and are caused by mitchochondrial dysfunction. LHON is based on mutations of the mitochondrial, ADOA of the nuclear DNA. LHON is a disease that usually leads to severe visual impairment (visual acuity < 0.1). Since there is an approved therapy for LHON (Idebenone [Raxone]), the diagnosis has to be confirmed immediately by means of molecular genetic diagnostics. ADOA usually shows less severe visual impairment, begins in childhood, and progresses gradually, often for a long time without any noticeable worsening. Family history (dominant heredity) and blue colour vision disorder are the leading indicators for the diagnosis of ADOA, which should be confirmed by molecular genetic testing. Optic nerve diseases can also occur in the context of hereditary, syndromic disorders. Ophthalmologically relevant are Wolfram syndrome, Friedreich's ataxia and Charcot-Marie-Tooth disease. In all hereditary optic nerve disorders, foods containing cyanide and smoking should be avoided. Excessive alcohol consumption is considered to be a trigger of LHON and possibly harmful in other hereditary optic neuropathies. In the management of patients with hereditary optic nerve disorders, aspects of rehabilitation as well as social and psychological care should be considered.

show abstract

Natural History of Conversion of Leber's Hereditary Optic Neuropathy

Cited by 66 publications

References 12 publications

Retinal energy demands control vascular supply of the retina in development and disease: The role of neuronal lipid and glucose metabolism

Retinal energy demands control vascular supply of the retina in development and disease: The role of neuronal lipid and glucose metabolism

Emerging Treatments for Leber's Hereditary Optic Neuropathy and Other Genetic Causes of Visual Loss

Erbliche Sehnerverkrankungen

Contact Info

Product

Resources

About