Global Variome shared LOVD

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Phenotype #0000250599 Individual ID 00269284 Associated disease CRDHL Diagnosis/Initial - Diagnosis/Definite CRDHL Phenotype details best‐corrected visual acuity 0.2/0.2; Goldmann visual fields normal peripheral limits, central, relative doughnut scotoma with small, spared central area; fundus imaging oculus dexter et sinister normal; blue light autofluorescence imaging oculus dexter et sinister mottled hyper‐ and hypoautofluorescence in macular area; optical coherence tomography oculus dexter et sinister granular aspect of outer retinal layers, disrupted outer retinal layer in fovea; full‐field flash electroretinography oculus dexter et sinister: mildly reduced rod‐specific responses, moderately reduced cone‐specific responses; sensorineural hearing loss for high tones; photophobia; acquired, severe color vision deficiency; asthenoteratozoospermia Inheritance Familial, autosomal recessive Age/Examination 29y (29 years) Age/Diagnosis - Age/Onset 06y Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license No license selected Created by Johan den Dunnen Date created 2021-02-19 09:01:49 +01:00 (CET) Date last edited N/A

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