Global Variome shared LOVD

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Phenotype #0000302515 Individual ID 00410412 Associated disease - Phenotype details family history with dominant inheritance pattern; best corrected visual acuity: 0.6 both eyes; slit lamp biomicroscopy: anterior segments normal; fundus: bilateral atrophic macular lesions with small flecks in the posterior pole; fundus autofluorescence: bull's-eye pattern of hypoautofluorescent macular lesions surrounded by hyperautofluorescence; spectral-domain optical coherence tomography: retinal pigment epithelium atrophy and photoreceptor layer defects; visual field test: bilateral central scotoma; full-field electroretinogram: slightly reduced amplitudes in both cone and rod respons Diagnosis/Initial - Inheritance Familial, autosomal dominant Diagnosis/Definite Stargardt-like macular dystrophy Age/Examination 38y (38 years) Age/Diagnosis - Age/Onset 38y Phenotype/Onset central visual disturbance without photophobia Protein - Owner name LOVD Database submission license Creative Commons Attribution 4.0 International Created by Anna Tracewska Date created 2022-05-25 23:32:20 +02:00 (CEST) Date last edited N/A

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