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Retinopathy and optic atrophy in a case of COQ2-related primary coenzyme Q10 deficiency.
Hereditary motor and sensory neuropathy type VIA with optic nerve pallor in two sisters with pathologic myopia: a case series and review.
Ophthalmologic and facial abnormalities of Nicolaides-Baraitser syndrome.
Eye and ocular adnexa manifestations of MED12-related disorders.