Nieuwe therapie voor hereditaire opticusneuropathie van Leber. Dat vereist wel een snellere diagnose.

Judith A. M. van Everdingen; Martha Tjon Fo Sang; L Ingeborgh van den Born; Jan-Willem R Pott

Nieuwe therapie voor hereditaire opticusneuropathie van Leber. Dat vereist wel een snellere diagnose.

Translated title of the contribution: New treatment option for Leber hereditary optic neuropathy: early diagnosis is required.

Judith A. M. van Everdingen, Martha Tjon Fo Sang, L Ingeborgh van den Born, Jan-Willem R Pott

Research output: Contribution to journal › Letter › peer-review

Abstract

BACKGROUND: Leber hereditary optic neuropathy (LHON) is an orphan disease which leads to painless subacute loss of central vision in both eyes. It develops mainly in young adults and is more common in males. It most often leads to lifelong blindness. Idebenone has shown to have a favourable effect in promoting vision recovery in LHON-patients with recent visual impairement.

CASE DESCRIPTION: Two male LHON patients, aged 27 and 54 years of age were misdiagnosed during one year with optic neuritis and conversion disorder. The delay caused unnecessary emotional suffering and took away the opportunity of idebenone treatment. This can be prevented by greater awareness of disease characteristcs and OCT-scanning.

CONCLUSION: Therapy for LHON requires a timely diagnosis.

Translated title of the contribution	New treatment option for Leber hereditary optic neuropathy: early diagnosis is required.
Original language	Dutch
Pages (from-to)	D5444
Number of pages	4
Journal	Nederlands Tijdschrift voor Geneeskunde
Volume	165
Publication status	Published - Nov 2021

Cite this

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title = "Nieuwe therapie voor hereditaire opticusneuropathie van Leber. Dat vereist wel een snellere diagnose.",

abstract = "Background: Leber hereditary optic neuropathy (LHON) is an orphan disease which leads to painless subacute loss of central vision in both eyes. It develops mainly in young adults and is more common in males. It most often leads to lifelong blindness. Idebenone has shown to have a favourable effect in promoting vision recovery in LHON-patients with recent visual impairement.Case description: Two male LHON patients, aged 27 and 54 years of age were misdiagnosed during one year with optic neuritis and conversion disorder. The delay caused unnecessary emotional suffering and took away the opportunity of idebenone treatment. This can be prevented by greater awareness of disease characteristcs and OCT-scanning.Conclusion: Therapy for LHON requires a timely diagnosis.",

author = "{van Everdingen}, {Judith A. M.} and {Tjon Fo Sang}, Martha and {van den Born}, {L Ingeborgh} and Pott, {Jan-Willem R}",

year = "2021",

month = nov,

language = "Nederlands",

volume = "165",

pages = "D5444",

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TY - JOUR

T1 - Nieuwe therapie voor hereditaire opticusneuropathie van Leber. Dat vereist wel een snellere diagnose.

AU - van Everdingen, Judith A. M.

AU - Tjon Fo Sang, Martha

AU - van den Born, L Ingeborgh

AU - Pott, Jan-Willem R

PY - 2021/11

Y1 - 2021/11

N2 - Background: Leber hereditary optic neuropathy (LHON) is an orphan disease which leads to painless subacute loss of central vision in both eyes. It develops mainly in young adults and is more common in males. It most often leads to lifelong blindness. Idebenone has shown to have a favourable effect in promoting vision recovery in LHON-patients with recent visual impairement.Case description: Two male LHON patients, aged 27 and 54 years of age were misdiagnosed during one year with optic neuritis and conversion disorder. The delay caused unnecessary emotional suffering and took away the opportunity of idebenone treatment. This can be prevented by greater awareness of disease characteristcs and OCT-scanning.Conclusion: Therapy for LHON requires a timely diagnosis.

AB - Background: Leber hereditary optic neuropathy (LHON) is an orphan disease which leads to painless subacute loss of central vision in both eyes. It develops mainly in young adults and is more common in males. It most often leads to lifelong blindness. Idebenone has shown to have a favourable effect in promoting vision recovery in LHON-patients with recent visual impairement.Case description: Two male LHON patients, aged 27 and 54 years of age were misdiagnosed during one year with optic neuritis and conversion disorder. The delay caused unnecessary emotional suffering and took away the opportunity of idebenone treatment. This can be prevented by greater awareness of disease characteristcs and OCT-scanning.Conclusion: Therapy for LHON requires a timely diagnosis.

M3 - Brief

C2 - 34854587

SN - 0028-2162

VL - 165

SP - D5444

JO - Nederlands Tijdschrift voor Geneeskunde

JF - Nederlands Tijdschrift voor Geneeskunde

ER -

Nieuwe therapie voor hereditaire opticusneuropathie van Leber. Dat vereist wel een snellere diagnose.

Abstract

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