Phenotype #0000306925

Individual ID	00415124
Associated disease	-
Phenotype details	measurements right/left eye: axial length: 15.85 mm / 15.91 mm; horizontal corneal diameter (white-to-white distance): 11.9 mm / 11.9 mm; anterior corneal curvature (keratometry) R-min (K-steep): 6.88 mm (49.0D) / 6.94 mm (48.6D); anterior corneal curvature (keratometry) R-max (K-flat): 7.16 mm (47.1D) / 7.19 mm (46.9D); anterior corneal curvature (keratometry) avg-R (avg-K): 7.02 mm (48.1D) / 7.07 mm (47.8D); anterior chamber depth: 3.41 mm / 3.41 mm; central corneal thickness: 514 um / 506 um; distance between temporal and nasal angular recesses measured in horizontal as-oct scans of the anterior segment of the eye: 11.5 mm / 11.5 mm; lens thickness: 5.70 mm / 5.65 mm; superior irido-corneal angle: 36.4deg / 21.0deg; nasal irido-corneal angle: 29.2deg / 20.5deg; inferior irido-corneal angle: 34.7deg / 24.5deg; temporal irido-corneal angle: 30.5deg / 27.4deg; optic disc area: 1.511 mm2 / 1.582 mm2; cup/disk area ratio: 0.004 / 0.214; at presentation: best corrected visual acuity right, left eye: 20/100, 20/100; iszontal diameter kinetic perimetry right / left eye, IV-4: 135deg/130deg, I-4: 67deg/60deg; spectral domain optical coherence tomography foveal thickness right / left eye (um): 575 / 545; 30m follow-up: best corrected visual acuity right, left eye: 20/125, 20/125; isopter horizontal diameter kinetic perimetry right / left eye, IV-4: 120deg/110deg; I-4: 65deg/57deg; spectral domain optical coherence tomography foveal thickness right / left eye (um): 591/518
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	posterior microphthalmos-renititis pigmentosa-foveoschisis-optic disk drusen syndrome
Age/Examination	33y (33 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-08-08 15:41:39 +02:00 (CEST)
Date last edited	N/A