Phenotype #0000304946

Individual ID	00412960
Associated disease	-
Phenotype details	9y: best corrected visual acuity right/left eye: 0,32/0,25 - reduced visual acuity on the right side; rod-cone dystrophy with right eye retinal detachment with macular involvement; serous pathogenesis was considered - therapy attempt with local carbonic anhydrase inhibitors and non-steroidal anti-inflammatory drugs as the usual therapeutic approach for serous retinal detachment: unsuccessful; outermost retinal periphery under general anesthesia: rhegmatogenous retinal detachment, subsequent surgical rehabilitation; one small, peripherally located round hole; optical coherence tomography: discrete changes in retrospective reassessment of the OCT images from 3y: ellipsoid zone and the interdigitation zone with subtle abnormalities that still spare the fovea, thinning of the outer retinal layers (outer plexiform and granular layer, membrana limitans externa and inner segment complex); reduced visual acuity data in infancy should therefore be carefully questioned with regard to subtle changes in the OCT, even if the macula and papilla appear ophthalmoscopically inconspicuous and there is no evidence of bilateral amblyopia, e.g. due to a high uncorrected refractive anomaly
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	rod-cone dystrophy
Age/Examination	9y (9 years)
Age/Diagnosis	-
Age/Onset	3y
Phenotype/Onset	lowered visual acuity
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-07 10:11:48 +02:00 (CEST)
Date last edited	N/A