Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

Purpose To explore the ocular manifestations of cobalamin C ( cblC ) deficiency, an inborn error of intracellular vitamin B12 metabolism. Design Retrospective, observational case series. Participants Twenty-five cblC patients underwent clinical and ophthalmic examination at the National Institutes o...

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Veröffentlicht in:	Ophthalmology (Rochester, Minn.) Minn.), 2016-03, Vol.123 (3), p.571-582
Hauptverfasser:	Brooks, Brian P., MD, PhD, Thompson, Amy H., PhD, Sloan, Jennifer L., MS, PhD, Manoli, Irini, MD, PhD, Carrillo-Carrasco, Nuria, MD, Zein, Wadih M., MD, Venditti, Charles P., MD, PhD
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Carrier Proteins - genetics Child Child, Preschool Disease Progression Electroretinography Follow-Up Studies Homocystinuria - diagnosis Homocystinuria - drug therapy Homocystinuria - genetics Homocystinuria - physiopathology Humans Hydroxocobalamin - therapeutic use Injections, Intramuscular Macular Degeneration - diagnosis Macular Degeneration - drug therapy Macular Degeneration - genetics Macular Degeneration - physiopathology Nystagmus, Pathologic - diagnosis Nystagmus, Pathologic - drug therapy Nystagmus, Pathologic - genetics Nystagmus, Pathologic - physiopathology Ophthalmology Optic Nerve Diseases - diagnosis Optic Nerve Diseases - drug therapy Optic Nerve Diseases - genetics Optic Nerve Diseases - physiopathology Optical Imaging Phenotype Retrospective Studies Strabismus - diagnosis Strabismus - drug therapy Strabismus - genetics Strabismus - physiopathology Tomography, Optical Coherence Visual Acuity - physiology Vitamin B 12 Deficiency - congenital Vitamin B 12 Deficiency - diagnosis Vitamin B 12 Deficiency - drug therapy Vitamin B 12 Deficiency - genetics Vitamin B 12 Deficiency - physiopathology Vitamin B Complex - therapeutic use
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