Table 3.

Disorders with Retinal Degeneration in the Differential Diagnosis of Spinocerebellar Ataxia Type 7

Gene(s)DisorderMOIEye FindingsNeurologic & Pathologic FindingsDistinguishing Features
CRX Cone-rod dystrophy 2 (OMIM 120970)ADImpaired color vision; central scotomaNo neurologic findingsNo neurologic findings
MT-ND1
MT-ND4
MT-ND6 1		 Leber hereditary optic neuropathy MatImpaired color vision; central scotomaNo neurologic findingsUsually midlife presentation
OPA3 Costeff syndrome (3-methylglutaconic aciduria type 3)ARBilateral optic atrophyChorea, spastic paraparesis, mild ataxia
  • Optic atrophy in childhood (age <10 yrs)
  • Common in persons of Iraqi Jewish origin due to founder variant
WFS1
CISD2 		Wolfram syndrome
(See WFS1 Wolfram Syndrome Spectrum Disorder.)		ARBilateral optic trophyAtaxia, diabetes mellitus/insipidus, hearing lossChildhood-onset diabetes mellitus & optic atrophy

AD = autosomal dominant; AR = autosomal recessive; Mat = maternal; MOI = mode of inheritance

1.

Three common mtDNA pathogenic variants in the listed genes account for 90%-95% of Leber hereditary optic neuropathy (LHON). Pathogenic variants in other mitochondrial genes (MT-ND2, MT-ND4L, and MT-ND5) are also known to be associated with LHON.

From: Spinocerebellar Ataxia Type 7

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