Chronic Progressive External Ophthalmoplegia

Ophthalmological signs and sensorimotor evaluation in mitochondrial diseases: a multidisciplinary prospective study

“…In 1868 a German ophthalmologist reported the rst case of PEO, attributing the clinical manifestations to disorders of the ocular nerves, about 100 years before description of the rst mitochondrial disorder with the introduction in the medical eld of this new group of diseases [16] and the later report of the rst pathogenic mtDNA variants [17,18], that ushered MDs in the nowadays molecular era. Myopathic etiology of PEO was documented in the mid-1950s [19][20][21][22]. In 1958, Kearns and Sayre reported a clinically distinct form of PEO, KSS, characterized by multisystemic involvement [11].…”

Ophthalmological signs and sensorimotor evaluation in mitochondrial diseases: a multidisciplinary prospective study

“…In 1868 a German ophthalmologist reported the rst case of PEO, attributing the clinical manifestations to disorders of the ocular nerves, about 100 years before description of the rst mitochondrial disorder with the introduction in the medical eld of this new group of diseases [16] and the later report of the rst pathogenic mtDNA variants [17,18], that ushered MDs in the nowadays molecular era. Myopathic etiology of PEO was documented in the mid-1950s [19][20][21][22]. In 1958, Kearns and Sayre reported a clinically distinct form of PEO, KSS, characterized by multisystemic involvement [11].…”

Progressive External Ophthalmoplegia

“…The neural changes reported in earlier studies were regarded as inconclusive. This view has prevailed in the majority of subsequent studies (Schwarz & Liu 1954;Beckett & Nersky 1953;Kearns & Sayre 1958;Cogan et al 1962;Lind & Prame 1963). Koerner & Schlote (1972) stated that there was not enough evidence to consider chronic progressive external ophthalmoplegia as part of an entity of neurogenic disorders.…”

Progressive Ophthalmoplegia

“…A variety of other neurological abnormali¬ ties occurred in nine cases ( (9) and is described with the case history below. Five biopsies of clinically affected deltoid or gastrocnemius muscles showed myopathie changes (4,8,17,18,27). Three deltoid biopsies were normal (15,22,24), even though the muscle was weak in case 22.…”

Ophthalmological signs and sensorimotor evaluation in mitochondrial diseases: a multidisciplinary prospective study

“…In 1868 a German ophthalmologist reported the rst case of PEO, attributing the clinical manifestations to disorders of the ocular nerves, about 100 years before description of the rst mitochondrial disorder with the introduction in the medical eld of this new group of diseases [16] and the later report of the rst pathogenic mtDNA variants [17,18], that ushered MDs in the nowadays molecular era. Myopathic etiology of PEO was documented in the mid-1950s [19][20][21][22]. In 1958, Kearns and Sayre reported a clinically distinct form of PEO, KSS, characterized by multisystemic involvement [11].…”

Progressive External Ophthalmoplegia

“…The neural changes reported in earlier studies were regarded as inconclusive. This view has prevailed in the majority of subsequent studies (Schwarz & Liu 1954;Beckett & Nersky 1953;Kearns & Sayre 1958;Cogan et al 1962;Lind & Prame 1963). Koerner & Schlote (1972) stated that there was not enough evidence to consider chronic progressive external ophthalmoplegia as part of an entity of neurogenic disorders.…”

Progressive Ophthalmoplegia

“…A variety of other neurological abnormali¬ ties occurred in nine cases ( (9) and is described with the case history below. Five biopsies of clinically affected deltoid or gastrocnemius muscles showed myopathie changes (4,8,17,18,27). Three deltoid biopsies were normal (15,22,24), even though the muscle was weak in case 22.…”

Ophthalmological signs and sensorimotor evaluation in mitochondrial diseases: a multidisciplinary prospective study

“…In 1868 a German ophthalmologist reported the rst case of PEO, attributing the clinical manifestations to disorders of the ocular nerves, about 100 years before description of the rst mitochondrial disorder with the introduction in the medical eld of this new group of diseases [16] and the later report of the rst pathogenic mtDNA variants [17,18], that ushered MDs in the nowadays molecular era. Myopathic etiology of PEO was documented in the mid-1950s [19][20][21][22]. In 1958, Kearns and Sayre reported a clinically distinct form of PEO, KSS, characterized by multisystemic involvement [11].…”

Progressive External Ophthalmoplegia

“…The neural changes reported in earlier studies were regarded as inconclusive. This view has prevailed in the majority of subsequent studies (Schwarz & Liu 1954;Beckett & Nersky 1953;Kearns & Sayre 1958;Cogan et al 1962;Lind & Prame 1963). Koerner & Schlote (1972) stated that there was not enough evidence to consider chronic progressive external ophthalmoplegia as part of an entity of neurogenic disorders.…”

Progressive Ophthalmoplegia

“…A variety of other neurological abnormali¬ ties occurred in nine cases ( (9) and is described with the case history below. Five biopsies of clinically affected deltoid or gastrocnemius muscles showed myopathie changes (4,8,17,18,27). Three deltoid biopsies were normal (15,22,24), even though the muscle was weak in case 22.…”