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[Hereditary Optic Neuropathies].
Klin Monbl Augenheilkd 2018; 235(6):747-763KM

Abstract

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.

Authors

No affiliation info available

Pub Type(s)

Journal Article
Review

Language

ger

PubMed ID

29490390

Citation

Rüther, Klaus. "[Hereditary Optic Neuropathies]." Klinische Monatsblatter Fur Augenheilkunde, vol. 235, no. 6, 2018, pp. 747-763.
Rüther K. [Hereditary Optic Neuropathies]. Klin Monbl Augenheilkd. 2018;235(6):747-763.
Rüther, K. (2018). [Hereditary Optic Neuropathies]. Klinische Monatsblatter Fur Augenheilkunde, 235(6), pp. 747-763. doi:10.1055/a-0583-6290.
Rüther K. [Hereditary Optic Neuropathies]. Klin Monbl Augenheilkd. 2018;235(6):747-763. PubMed PMID: 29490390.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Hereditary Optic Neuropathies]. A1 - Rüther,Klaus, Y1 - 2018/02/28/ PY - 2018/3/1/pubmed PY - 2019/9/12/medline PY - 2018/3/1/entrez SP - 747 EP - 763 JF - Klinische Monatsblatter fur Augenheilkunde JO - Klin Monbl Augenheilkd VL - 235 IS - 6 N2 - 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. SN - 1439-3999 UR - https://www.unboundmedicine.com/medline/citation/29490390/[Hereditary_Optic_Neuropathies]_ L2 - http://www.thieme-connect.com/DOI/DOI?10.1055/a-0583-6290 DB - PRIME DP - Unbound Medicine ER -