Phenotype #0000299838

Individual ID	00407691
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/200, 20/400; fundus examination: retinal pigment epithelium mottling in the macula of both eyes, as well as arteriolar attenuation 10y: best corrected visual acuity right, left eye: 3/60, counting fingers; retinal examination: arteriolar abnormalities, pigmentation of the retina in the macular region, and bilateral retinal pigment epithelium anomalies; optical coherence tomography: retina appeared intact with clearly visible high contrast bands representing the internal limiting membrane, nerve fiber layer, inner plexiform layer, and the outer plexiform layer; thin, high contrast single layer corresponding to the retinal pigment epithelium was also present; spectral domain OCT - only one band was visualized (degeneration of the outer retina), clearly visible areas of hypertrophy in the choroidal structure, small sub-retinal pigment epithelium focal deposits
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	-
Age/Diagnosis	8y
Age/Onset	2y
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 19:16:16 +02:00 (CEST)
Date last edited	N/A