Phenotype #0000294241

Individual ID	00401198
Associated disease	USH
Diagnosis/Initial	-
Diagnosis/Definite	Usher syndrome type 2A
Phenotype details	nyctalopia and restricted visual field in both eyes since childhood; diagnosed RP with no family history; bilateral hearing impairment since childhood (hearing aids); best-corrected visual acuity at presentation: 2.5/10 (- 1.00sph) in the RE and 3.5/10 (-1.00cyl 9 90deg) in the left eye (Snellen). Dilated fundoscopy: full-thickness macular hole (FTMH) and posterior vitreous detachment in the right eye; both eyes typical signs of RP including peripheral retinal atrophy with bone spicule-shaped pigmentation in the mid periphery, waxy pallor of the optic nerve head and attenuation of retinal vessels; spectral domain optical coherence tomography confirmed the presence of a FTMH stage IV in the RE along with atrophy of the outer retinal layers and absence of the ellipsoid zone; left eye, thinning of the outer retinal layers was also observed, while the ellipsoid zone was only preserved in the fovea. One month after surgery the successful closure of the macular hole with severe disruption of the ellipsoid zone was confirmed. The scotopic full-field electroretinogram (ffERG): non-recordable in both eyes indicating mostly loss of rod system sensitivity; photopic ERG responses: reduced and delayed in both eyes
Inheritance	Familial, autosomal recessive
Age/Examination	28y (28 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-01-28 15:03:41 +01:00 (CET)
Date last edited	N/A