Global Variome shared LOVD

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Phenotype #0000300174 Individual ID 00408044 Associated disease - Phenotype details 1y: strabismus surgery for correction of esotropia; pupils: paradoxical reaction to dark; funduscopy: widespread retinal degeneration with retinal pigment epithelium mottling on the periphery was appreciated; macula severely atrophic as compared to the rest of the posterior pole while the peripapillary retina was spared; short-wavelength fundus autofluorescence: peripapillary indicated by the higher levels of autofluorescence as compared to the otherwise widespread loss of autofluorescence throughout the rest of the posterior pole Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite macular dystrophy Age/Examination 3y (3 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 2022-04-12 14:05:43 +02:00 (CEST) Date last edited N/A

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