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. Author manuscript; available in PMC: 2021 Apr 2.
Published in final edited form as: Mol Genet Metab. 2017 Aug 20;122(1-2):18–32. doi: 10.1016/j.ymgme.2017.08.006

Table 11.

Ophthalmologic complications of leukodystrophies.

Leukodystrophy Potential issues
4H or POLR3-related leukodystrophy [111]

  • Severe myopia

  • Retinal detachment
Aicardi-Goutieres Syndrome (AGS) [113]

  • Glaucoma
Peroxisome biogenesis disorders [113]

  • Glaucoma

  • Cataracts

  • Pigmentary retinopathy
Oculodentodigital dysplasia (ODDD) [113]

  • Glaucoma

  • Microphthalmia

  • Microcornea

  • Iris malformations

  • Optic atrophy
Cerebroretinal microangiopathy with calcifications and cysts disease (CRMCC, coats plus syndrome)

  • Bilateral retinal telangiectasia

  • Retinal exudates
Leukoencephalopathy, brain calcifications, and cysts disease (LCC)

  • Bilateral retinal telangiectasia

  • Retinal exudates
Retinal vasculopathy with cerebral leukodystrophy (RVCL)

  • Bilateral retinal telangiectasia

  • Retinal exudates
Sjogren-Larsson Syndrome (SLS)

  • Macular degeneration with perifoveal crystalline inclusions
Hypomyelination and congenital cataracts (HCC)

  • Cataracts
Pelizaeus-Merzbacher disease

  • Nystagmus

  • Dysfunctional smooth pursuits
Cerebrotendinous xanthomatosis [37]

  • Cataracts