Phenotype #0000299839

Individual ID	00407692
Associated disease	-
Phenotype details	nystagmus since childhood, best corrected visual acuity right, left eye: 20/400, 20/200, cataracts extracted in both eyes; clumpy pigment deposits, mostly in macular area, causing an uneven line of retinal pigment epithelium on spectral domain optical coherence tomography; increased retinal thickness in retinal parts devoid of pigment deposits around the optic disk and in periphery; hyperreflective formations either in the inner nuclear layer or in the outer nuclear layer
Diagnosis/Initial	Stargardt disease or retinitis pigmentosa or cone-rod dystrophy or Leber congenital amaurosis
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Leber congenital amaurosis
Age/Examination	31y (31 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	mutation alters the Kir7.1 channel current
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-07 19:59:47 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD