Phenotype #0000302503

Individual ID	00410399
Associated disease	-
Phenotype details	photophobic since early childhood; 10y: bilateral bull's eye maculopathy, high myopia. 20y: uncorrected visual acuity right, left eye: 2/200, 4/200; low-amplitude high-frequency pendular nystagmus with full ductions; no strabismus; anterior segment and pupillary examinations: unremarkable; retinal examination: bilateral macular discoloration (replacement of normal darkened appearance by a central reddish-orange hue and surrounding mottling), peripheral mottling with intraretinal pigment clumping; fundus autofluorescence: areas of increased and decreased signal; optical coherence tomography: loss of outer retinal architecture, particularly in the macula; cycloplegic refraction: 9.00 diopters in both eyes; visual acuity did not improve with correction; Goldmann visual fields: depressed central fixation of less than 10 degrees with an inferotemporal island of vision in both eyes; non-recordable electroretinogram b
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	cone-rod dystrophy with high myopia
Age/Examination	20y (20 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	poor vision since the first few years of life, nystagmus 3-4y
Protein	PROM1_000178
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-05-25 14:11:56 +02:00 (CEST)
Date last edited	2022-05-25 14:13:34 +02:00 (CEST)

Global Variome shared LOVD