Global Variome shared LOVD

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Phenotype #0000307298 Individual ID 00415513 Associated disease - Phenotype details grade 2 North Carolina macular dystrophy retinal changes; best-corrected visual acuity: 20/40 in each eye; fundus: confluent bilaterally symmetrical macular yellow drusen-like lesions; spectral domain optical coherence tomography: intact inner segment and outer segment photoreceptor junction with mild irregularities more concentrated temporal to the fovea in each eye; poor cooperation and longer acquisition times - no results from other examinations; phenotype is consistent with torpedo maculopathy Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite North Carolina macular dystrophy Age/Examination 5y (5 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 2022-08-14 16:47:31 +02:00 (CEST) Date last edited N/A

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