Phenotype #0000305218

Individual ID	00413237
Associated disease	-
Phenotype details	birth weight of 3500 g (+0.57 SD) and length of 51.0 cm (+0.99 SD), previous diagnosis of retinal dystrophy; nystagmus, photophobia and reduced visual acuity since the first years of life; ophthalmologic examination: macular and optic atrophy, decreased retinal thickness and reduced cone responses, but normal rod responses; oral examination: generalized yellow to yellowish-brown teeth with rough surfaces and some irregular defects; 9y: weight was of 21600 g (+0.95 SD), length was 114.5 cm (+0.80 SD), and head circumference was 51.8 cm (+0.49 SD); the father (37-year-old) showed strabismus and inability to see clearly with right eye since childhood; had reduced visual acuity and refractive error of +4.00 in the right eye; color vision testing and pupillary reflexes: normal, but fundus examination showed generalized depigmentation with bilateral pale disk, optical coherence tomography: thickening of the inner nuclear layer with hyporeflective cysts near the fovea and the ellipsoid zone appeared to be preserved in both eyes; optic disc OCT: diffuse reduction of the nerve fiber layer in both eyes; multifocal electroretinogram: no abnormalities; although partially edentulous, the teeth were of normal aspect and consistency
Diagnosis/Initial	retinal dystrophy
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Jalili Syndrome
Age/Examination	9y (9 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 19:02:10 +02:00 (CEST)
Date last edited	N/A