Phenotype #0000307978

Individual ID	00416213
Associated disease	-
Phenotype details	7y9m: compound myopic refractive error (-6.00 sph + 4.00 cyl x 090 both eyes) and advanced pigmentary retinopathy; 17y: best corrected visual acuity right, left eye: 20/70, 20/50, 27y: 20/200 both eyes, no functional visual field or peripheral vision; bio-microscopy: early posterior cortical pre-capsular cataracts in each eye, considerable vitreous syneresis with strands, cells, and pigment; retinal examination: diffuse vascular attenuation, advanced waxy optic nerve pallor, and extensive pigmentary retinopathy in all four quadrants of each eye; history of intellectual disability manifested in part by profound speech delay, speaking his first recognizable words at age 3y6m; limited attention span, considerable developmental delay, and speech pathology that required special education; flat feet, mostly truncal obesity - clinical features simulate Bardet-Biedl Syndrome, but no polydactyly, no history of renal disease or other constitutional complications - diagnosed with syndromic RP
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	syndromic retinitis pigmentosa
Age/Examination	27y (27 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-24 13:01:25 +02:00 (CEST)
Date last edited	N/A