Congenital Fibrosis of Extraocular Muscles Type 1 with Progression of Ophthalmoplegia

Recently, different syndromes with congenital, non-progressive, sporadic or familial developmental abnormalities of the cranial nerves and their nuclei were classified as congenital cranial dysinnervation syndromes (CCDD). Duane and Möbius syndromes are well-known examples of CCDD. Another syndrome is the congenital fibrosis of extraocular muscles (CFEOM), which is characterized by a mainly bilateral ophthalmoplegia of the oculomotoric and trochlearic nerves. We present the case of a 60-year-old patient with CFEOM type 1 with autosomal-dominant inheritance and typical phenotype due to the common C2860T mutation…