Rare Diseases Symptoms Automatic Extraction

Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.

[homocystinuria without methylmalonic aciduria]

Abstract Purpose: To describe the retinal structure in a patient with cobalamin C (cblC) disease. Methods: A 13-year-old male patient diagnosed with cblC disease during a perinatal metabolic screening prompted by jaundice and hypotony underwent ophthalmic examinations, electroretinography (ERG) and spectral domain optical coherence tomography (SD-OCT). Results: The patient carried a homozygous (c.271dupA) mutation in the methylmalonic aciduria and homocystinuria type C (MMACHC) gene. At age 3 months he had a normal eye exam. A pigmentary maculopathy progressed to chorioretinal atrophy from 5-10 months. ERG at 7 months was normal. A nystagmus remained stable since the age of 2 years. At age 13, visual acuity was 20/250 (right eye) and 20/400 (left eye), with a +5.00 D correction, a level of vision maintained since first measurable at age 5 years. SD-OCT showed bilateral macular coloboma-like lesions; there was also a thickened surface layer with ganglion cell layer thinning. Photoreceptor outer segment loss and thinning of the outer nuclear layer (ONL) transitioned to regions with no discernible ONL with a delaminated, thickened, inner retina. Conclusions: A thick surface layer near the optic nerve resembling an immature retina and an initially normal macula that rapidly developed coloboma-like lesions suggest there may be an interference with retinal/foveal development in cblC, a mechanism of maculopathy that may be shared by other early onset retinal degenerations. Photoreceptor loss and inner retinal remodeling confirm associated photoreceptor degeneration.

Diseases presenting "year-old male patient" symptom

  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • benign recurrent intrahepatic cholestasis
  • cadasil
  • coats disease
  • cohen syndrome
  • cystinuria
  • dentinogenesis imperfecta
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • fabry disease
  • heparin-induced thrombocytopenia
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • liposarcoma
  • malignant atrophic papulosis
  • monosomy 21
  • oligodontia
  • papillon-lefèvre syndrome
  • pendred syndrome
  • pleomorphic liposarcoma
  • triple a syndrome
  • waldenström macroglobulinemia
  • well-differentiated liposarcoma

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