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Leber hereditary optic neuropathy, autosomal recessive(MC1DN38; LHONAR1)

MedGen UID:: 1786310
•Concept ID:: C5543589
•: Disease or Syndrome

Synonyms:	LEBER-LIKE HEREDITARY OPTIC NEUROPATHY, AUTOSOMAL RECESSIVE 1; LHONAR; LHONAR1; MC1DN38; MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 38

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	DNAJC30, NDUFS2

Monarch Initiative:	MONDO:0030309
OMIM®:	618202; 619382
OMIM® Phenotypic series:	PS619382

Clinical features

From HPO

Central scotoma

MedGen UID:: 57750
•Concept ID:: C0152191
•: Finding

An area of depressed vision located at the point of fixation and that interferes with central vision.

See: Feature record | Search on this feature

Retinal telangiectasia

MedGen UID:: 57598
•Concept ID:: C0154835
•: Disease or Syndrome

Dilatation of small blood vessels of the retina.

See: Feature record | Search on this feature

Reduced visual acuity

MedGen UID:: 65889
•Concept ID:: C0234632
•: Finding

Diminished clarity of vision.

See: Feature record | Search on this feature

Central retinal vessel vascular tortuosity

MedGen UID:: 867211
•Concept ID:: C4021569
•: Finding

The presence of an increased number of twists and turns of retinal blood vessels (arteries, arterioles, veins, venules).

See: Feature record | Search on this feature

Retinal nerve fiber edema

MedGen UID:: 1689646
•Concept ID:: C5209223
•: Pathologic Function

Swelling (edema) of the retinal nerve fibers.

See: Feature record | Search on this feature

Abnormality of the eye

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVLeber hereditary optic neuropathy, autosomal recessive
- CROGVLeber-like hereditary optic neuropathy, autosomal recessive 1
- CROGVLeber-like hereditary optic neuropathy, autosomal recessive 2

Leber hereditary optic neuropathy, autosomal recessive
- Leber-like hereditary optic neuropathy, autosomal recessive 1
- Leber-like hereditary optic neuropathy, autosomal recessive 2

Recent clinical studies

Etiology

DNAJC30 Gene Variants Are a Frequent Cause of a Rare Disease: Leber Hereditary Optic Neuropathy in Polish Patients.

Skorczyk-Werner A, Tońska K, Maciejczuk A, Nowomiejska K, Korwin M, Ołdak M, Wawrocka A, Krawczyński MR
Int J Mol Sci 2023 Dec 15;24(24) doi: 10.3390/ijms242417496. PMID: 38139324 Free PMC Article

The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.

Rocatcher A, Desquiret-Dumas V, Charif M, Ferré M, Gohier P, Mirebeau-Prunier D, Verny C, Milea D, Lenaers G; HON Collaborators Group, Bonneau D, Reynier P, Amati-Bonneau P
Brain 2023 Feb 13;146(2):455-460. doi: 10.1093/brain/awac395. PMID: 36317462

Mitochondrial Disorders.

Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H
Dtsch Arztebl Int 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. PMID: 34158150 Free PMC Article

Movement disorders in mitochondrial diseases.

Tranchant C, Anheim M
Rev Neurol (Paris) 2016 Aug-Sep;172(8-9):524-529. Epub 2016 Jul 28 doi: 10.1016/j.neurol.2016.07.003. PMID: 27476418

Genetic and phenotypic variability of optic neuropathies.

Neuhann T, Rautenstrauss B
Expert Rev Neurother 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19. PMID: 23545052

See all (12)

Diagnosis

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.

Lenaers G, Beaulieu C, Charif M, Gerber S, Kaplan J, Rozet JM
Brain 2023 Aug 1;146(8):3156-3161. doi: 10.1093/brain/awad131. PMID: 37071596 Free PMC Article

Mitochondrial optic neuropathies.

Carelli V, La Morgia C, Yu-Wai-Man P
Handb Clin Neurol 2023;194:23-42. doi: 10.1016/B978-0-12-821751-1.00010-5. PMID: 36813316

Mitochondrial Disorders.

Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H
Dtsch Arztebl Int 2021 Nov 5;118(44):741-748. doi: 10.3238/arztebl.m2021.0251. PMID: 34158150 Free PMC Article

Dominant optic atrophy.

Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096 Free PMC Article

Mitochondrial disorders.

Zeviani M, Tiranti V, Piantadosi C
Medicine (Baltimore) 1998 Jan;77(1):59-72. doi: 10.1097/00005792-199801000-00006. PMID: 9465864

See all (22)

Therapy

Leber's hereditary optic neuropathy: Update on the novel genes and therapeutic options.

Hu JL, Hsu CC, Hsiao YJ, Lin YY, Lai WY, Liu YH, Wang CL, Ko YL, Tsai ML, Tseng HC, Chien Y, Yang YP
J Chin Med Assoc 2024 Jan 1;87(1):12-16. Epub 2023 Nov 28 doi: 10.1097/JCMA.0000000000001031. PMID: 38016117

See all (1)

Prognosis

Ocular genetics in the Japanese population.

Hotta Y, Torii K, Takayama M
Jpn J Ophthalmol 2024 Sep;68(5):401-418. Epub 2024 Sep 14 doi: 10.1007/s10384-024-01109-8. PMID: 39271608 Free PMC Article

Autosomal recessive leber hereditary optic neuropathy in a choroideremia carrier. A case report.

Roomets E, Mauring L
Eur J Ophthalmol 2024 Sep;34(5):NP1-NP7. Epub 2024 May 7 doi: 10.1177/11206721241254408. PMID: 38715355 Free PMC Article

Dominant optic atrophy.

Lenaers G, Hamel C, Delettre C, Amati-Bonneau P, Procaccio V, Bonneau D, Reynier P, Milea D
Orphanet J Rare Dis 2012 Jul 9;7:46. doi: 10.1186/1750-1172-7-46. PMID: 22776096 Free PMC Article

Hematological manifestations of primary mitochondrial disorders.

Finsterer J
Acta Haematol 2007;118(2):88-98. Epub 2007 Jul 18 doi: 10.1159/000105676. PMID: 17637511

Low prevalence of lecithin retinol acyltransferase mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa.

Sweeney MO, McGee TL, Berson EL, Dryja TP
Mol Vis 2007 Apr 5;13:588-93. PMID: 17438524 Free PMC Article

See all (9)

Clinical prediction guides

Ocular genetics in the Japanese population.

Hotta Y, Torii K, Takayama M
Jpn J Ophthalmol 2024 Sep;68(5):401-418. Epub 2024 Sep 14 doi: 10.1007/s10384-024-01109-8. PMID: 39271608 Free PMC Article

Ophthalmic manifestations of MEPAN syndrome.

Gupta PR, Gospe SM , III
Ophthalmic Genet 2023 Oct;44(5):469-474. Epub 2022 Oct 19 doi: 10.1080/13816810.2022.2135112. PMID: 36262091

Genetic and phenotypic variability of optic neuropathies.

Neuhann T, Rautenstrauss B
Expert Rev Neurother 2013 Apr;13(4):357-67. doi: 10.1586/ern.13.19. PMID: 23545052

Leber's hereditary optic neuropathy affects only female matrilineal relatives in two Chinese families.

Qu J, Wang Y, Tong Y, Zhou X, Zhao F, Yang L, Zhang S, Zhang J, West CE, Guan MX
Invest Ophthalmol Vis Sci 2010 Oct;51(10):4906-12. Epub 2010 Apr 30 doi: 10.1167/iovs.09-5027. PMID: 20435583 Free PMC Article

Towards understanding CRUMBS function in retinal dystrophies.

Richard M, Roepman R, Aartsen WM, van Rossum AG, den Hollander AI, Knust E, Wijnholds J, Cremers FP
Hum Mol Genet 2006 Oct 15;15 Spec No 2:R235-43. doi: 10.1093/hmg/ddl195. PMID: 16987889

See all (15)

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Leber hereditary optic neuropathy, autosomal recessive(MC1DN38; LHONAR1)

Clinical features

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

Therapy

Prognosis

Clinical prediction guides

Supplemental Content

Table of contents

Genetic Testing Registry

Clinical resources

Consumer resources

Reviews

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