Global Variome shared LOVD

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Phenotype #0000303544 Individual ID 00411507 Associated disease - Phenotype details best corrected visual acuity right, left eye: 0.1, hand movement; posterior subcapsular cataract both eyes:intraocular lens; vitreous both eyes: -; disc right/left eye: temporal atrophy, diffuse atrophy; vessels: -; pigmentation morphology: typical bone spicule; pigmentation grading: confluent; macula appearance: altered; Visual field (area, %) I4 right/left eye: -/not available, V4 right/left eye: 2.8/not available; rod electroretinogram: b amplitude both eyes: not recordable; rod electroretinogram: b amplitude maximal response both eyes: not recordable, ""a"" peak both eyes: -, ""b"" peak both eyes: -, cone 30-Hz amplitude both eyes: not recordable Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite retinitis pigmentosa Age/Examination 41y (41 years) Age/Diagnosis - Age/Onset 5y Phenotype/Onset - Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-06-14 14:34:23 +02:00 (CEST) Date last edited N/A

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