Ophthalmoplegic Retinal Degeneration Syndrome (Barnard-Scholz Syndrome)
General: Onset at all ages (see Kearns-Sayre Syndrome).
Ocular: Unilateral or bilateral progressive weakness of muscles of eyelids, up to severe ptosis; progressive ocular myopathy up to complete ophthalmoplegia; retinitis pigmentosa.
Clinical: Facial, neck, and shoulder muscle weakness; hearing defects; heart block.
Barnard RI, Scholz RO. Ophthalmoplegia and retinal degeneration. Am J Ophthalmol 1944; 27:621.
Geeraets WJ Ocular Syndromes, 3rd ed. Philadelphia: Lea & Febiger, 1976.
Kiloh LG, Nevin S. Progressive dystrophy of the external ocular muscles (ocular myopathy). Brain 1951; 774: 115-l43.
Inverted Y Syndrome [...] |
Louis-Bar Syndrome (Cephalo-Oculocutaneous Telangiectasis; Ataxia-Telangiectasia Syndrome) General: Autosomal recessive; thymic abnormality [...] |
MELAS Syndrome 7 [...] |
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