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Autosomal recessive optic atrophy, OPA7 type(OPA7)

MedGen UID:: 414112
•Concept ID:: C2751812
•: Disease or Syndrome

Synonyms:	Optic atrophy 7; OPTIC ATROPHY 7 WITH OR WITHOUT AUDITORY NEUROPATHY
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal recessive inheritance (Orphanet)

Gene (location): Gene(s) directly associated with this condition or phenotype.	TMEM126A (11q14.1)

Monarch Initiative:	MONDO:0013069
OMIM®:	612989
Orphanet:	ORPHA227976

Definition

A rare, syndromic, hereditary optic neuropathy disorder characterized by early-onset, severe, progressive visual impairment, optic disc pallor and central scotoma, variably associated with dyschromatopsia, auditory neuropathy (e.g. mild progressive sensorineural hearing loss), sensorimotor axonal neuropathy and, occasionally, moderate hypertrophic cardiomyopathy. [from ORDO]

Clinical features

From HPO

Hypertrophic cardiomyopathy

MedGen UID:: 2881
•Concept ID:: C0007194
•: Disease or Syndrome

Hypertrophic cardiomyopathy (HCM) is defined by the presence of increased ventricular wall thickness or mass in the absence of loading conditions (hypertension, valve disease) sufficient to cause the observed abnormality.

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Sensorineural hearing loss disorder

MedGen UID:: 9164
•Concept ID:: C0018784
•: Disease or Syndrome

A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.

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Pallor

MedGen UID:: 10547
•Concept ID:: C0030232
•: Finding

Abnormally pale skin.

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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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Strabismus

MedGen UID:: 21337
•Concept ID:: C0038379
•: Disease or Syndrome

A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

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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.

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Reduced visual acuity

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

Diminished clarity of vision.

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Constriction of peripheral visual field

MedGen UID:: 68613
•Concept ID:: C0235095
•: Finding

An absolute or relative decrease in retinal sensitivity extending from edge (periphery) of the visual field in a concentric pattern. The visual field is the area that is perceived simultaneously by a fixating eye.

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Horizontal nystagmus

MedGen UID:: 124399
•Concept ID:: C0271385
•: Disease or Syndrome

Nystagmus consisting of horizontal to-and-fro eye movements.

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Optic disc pallor

MedGen UID:: 108218
•Concept ID:: C0554970
•: Finding

A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.

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Dyschromatopsia

MedGen UID:: 163559
•Concept ID:: C0858618
•: Disease or Syndrome

A form of colorblindness in which only two of the three fundamental colors can be distinguished due to a lack of one of the retinal cone pigments.

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Visual impairment

MedGen UID:: 777085
•Concept ID:: C3665347
•: Finding

Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

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