Phenotype #0000306969

Individual ID	00415169
Associated disease	-
Phenotype details	best corrected visual acuity right, left eye: 20/400, 20/200; refractive error right, left eye: +16.75 D, +14.0 D in the left eye; progressive nyctalopia and decreasing visual acuity since infancy; anterior segment: normal; intraocular pressure right, left eye: 14, 11 mmHg; biometry: reduced axial length right/left eye: 15.5 /16 mm; funduscopy: blunted foveal reflexes, cystic lesions, retinal pigment epithelium mottling, and atrophy at the central macula; fundus autofluorescence: small hyperfluorescent dots distributed over the entire macula with the highest density in the inferior perifoval region of both eyes; spectral domain optical coherence tomography: increased foveal thickness, right/left eye: 538 / 545 μm; foveal B scans: areas of low reflectivity due to multiple cysts located predominately in the ganglion cell layer and the inner and outer nuclear layers; ultrasonography: highly reflective optic nerve head drusen in both eyes; electrophysiology: dim flash dark adapted electroretinograms (DA 0.01): nt detectable, bright flash dark adapted electroretinograms (DA 10.0): marked a wave reduction, in keeping with loss of rod photoreceptor function; photopic flicker and single flash electroretinograms: delayed, amplitude reduction, indicating generalised retinal cone system dysfunction; pattern electroretinograms: subnormal P50s in both eyes and loss of N95 in the left eye
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Age/Examination	7y (7 years)
Age/Diagnosis	-
Age/Onset	<1y
Phenotype/Onset	progressive nyctalopia and decreasing visual acuity
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-09 11:23:44 +02:00 (CEST)
Date last edited	N/A