Phenotype #0000306971

Individual ID	00415172
Associated disease	-
Phenotype details	high hyperopia; cycloplegic: refractive error: S+11,50 D both eyes; best corrected visual acuity: 5/20; fundus: macular fold, crowded and elevated optic disc, some vascular tortuositas; ultrasonography: axial length: 15 mm for each eye, further showing a thickened sclera and a prominent optic nerve with optic nerve drusen; autofluorescence imaging: normal, with exception of a slightly abnormal macular pattern at the level of the macular fold, and some granular hyperreflectivity around the inferior macular vessels in both eyes
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	posterior microphthalmia
Age/Examination	4y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	high hyperopia
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-09 12:18:36 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD