| 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 |
Creative Commons Attribution 4.0 International |
| 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) |
