Leber-like hereditary optic neuropathy, autosomal recessive 2(LHONAR2)

MedGen UID:: 1845294
•Concept ID:: C5882713
•: Disease or Syndrome

Synonym:	Leber hereditary optic neuropathy, autosomal recessive 2

Gene (location): Gene(s) directly associated with this condition or phenotype.	NDUFS2 (1q23.3)

Monarch Initiative:	MONDO:0958197
OMIM®:	620569

Definition

Autosomal recessive Leber-like hereditary optic neuropathy-2 (LHONAR2) is characterized by subacute bilateral or asymmetrical visual loss, optic nerve pseudoedema and peripapillary telangiectasia in the early phase of the disease, and eventual partial recovery in some patients (Gerber et al., 2017). For a discussion of genetic heterogeneity of autosomal recessive Leber-like hereditary optic neuropathy, see LHONAR1 (619382). [from OMIM]

Clinical features

From HPO

Optic atrophy

MedGen UID:: 18180
•Concept ID:: C0029124
•: Disease or Syndrome

Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.

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Red-green dyschromatopsia

MedGen UID:: 102324
•Concept ID:: C0155016
•: Disease or Syndrome

Difficulty with discriminating red and green hues.

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Centrocecal scotoma

MedGen UID:: 82870
•Concept ID:: C0271196
•: Finding

A scotoma (area of diminished vision within the visual field) located between the central point of fixation and the blind spot with a roughly horizontal oval shape.

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Progressive visual loss