Phenotype #0000298305

Individual ID 00405808
Associated disease -
Phenotype details cystoid macular edema and subretinal fluid accumulation; best corrected visual acuity at first visit right, left eye: 20/29, 20/33, 5 and 7 months later 20/40 both eyes; intraocular pressure: normal; anterior chamber depth and anterior chamber angles: normal; no microcornea, cataract, or staphyloma; fundus: yellowish macular lesions; fundus autofluorescence: hyper signals corresponding to the yellowish lesions; fundus fluorescein angiography: no vessel leaks
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite autosomal recessive bestrophinopathy (ARB)
Age/Examination 29y (29 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset reduced vision in both eyes
Protein -
Owner name LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-03-22 17:40:37 +01:00 (CET)
Date last edited N/A

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