Phenotype #0000317811

Individual ID	00426656
Associated disease	BBS
Phenotype details	whole family description: the youngest child examined, 4y: visual acuity: 6/50 (0.92 logMAR) in both eyes, constricted visual field; mixed rod-cone electroretinogram amplitude: 11% of normal; intrafamilial variability thought to reflect the different stages of the disease due to the different ages of participants; retinitis pigmentosa progressed with age; surface retinal wrinkling mostly around the vessels in older patients; no significant bone spicule-like pigmentation including a 37y individual with visual acuity was reduced to questionable light perception - pigment clumping, a large exotropia and posterior subcapsular cataracts; no significant refractive errors in the family; electroretinograms recorded from two affected individuals, ages 4 and 17y: older child showed nonrecordable responses confirming advanced photoreceptor degeneration, younger child, the amplitude of the mixed rod-cone response and cone response: reduced in comparison with aged matched control data, but recordable at 60 and 45 mV, respectively
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Bardet-Biedl syndrome (BBS)
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-12-02 13:36:51 +01:00 (CET)
Date last edited	N/A