Global Variome shared LOVD

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Phenotype #0000301964 Individual ID 00409848 Associated disease - Phenotype details poor night vision for as long as he could remember; best corrected visual acuity: 20/15 both eyes; anterior segment slit-lamp examination: normal; retinal examination: inferotemporal sector of circumscribed atrophy/pigmentation in the left eye; macular optical coherence tomography: a focal point of retinal pigment epithelium thickening nasal to the fovea of the left eye; electroretinography: normal Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite rod-cone dystrophy Age/Examination 61y (61 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-12 11:42:14 +02:00 (CEST) Date last edited N/A

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