Phenotype #0000305203

Individual ID	00413222
Associated disease	-
Phenotype details	progressive deterioration of central vision with later development of difficulties with night vision; 20y: reduced visual acuity, ophthalmoscopy: macular changes (geographic atrophy); fundus autofluorescence: a window effect of the macular region due to the atrophy of the underlying retinal pigment epithelium; optical coherence tomography: decreased foveal and retinal thickness; electroretinogram: reduced rod responses and non-recordable cone responses; enamel defect amelogenesis imperfecta; dental examination: dentition was thin layer in morphology with a generally yellow brown color in permanent teeth; enamel of the teeth almost absent, but the exposed dentin was not sensitive; no other pathological signs and no mental delay
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Jalili Syndrome
Age/Examination	21y (21 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	nystagmus, photophobia and reduced visual acuity
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-12 14:25:39 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD