Phenotype #0000300171

Individual ID 00408041
Associated disease -
Phenotype details visual acuity (VA) at presentation: 6/60 bilaterally; ocular media: clear, fundi: bilateral outer retinal changes with intraretinal pigment migration in the posterior pole and peripapillary sparing, fine refractile crystal-like deposits were noted at the border of the atrophic changes, no retinal vascular attenuation in either eye; fundus autofluorescence: bilateral patches of hypoautofluorescence in the macula, extending over areas superior and nasal to the optic disc with a rugged hyperautofluorescent border giving a leaf-like appearance; macular optical coherence tomography: outer nuclear and ellipsoid zone layers markedly disrupted; full-field electroretinography: moderate bilateral reduction of the rod and cone-mediated ERG responses, without peak time delay; pattern electroretinography bilaterally undetectable, severe macular dysfunction
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite macular dystrophy
Age/Examination 29y (29 years)
Age/Diagnosis -
Age/Onset 14y
Phenotype/Onset -
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-04-12 13:39:26 +02:00 (CEST)
Date last edited N/A

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