Phenotype #0000308914

Individual ID	00417428
Associated disease	-
Phenotype details	no syndromes or associations detected, ocular examination of family members: no abnormalities; uncorrected and best-corrected visual acuity right eye: 20/500 and 20/200, respectively, left eye: 20/400 and could not be corrected; refractive correction in diopters (dpt) right/left eye: -8.50 dpt -2.00 x5 / -10.00 dpt -2.00 x 05; intraocular pressure right/left eye: 23/20 mm Hg; cornea, anterior chamber, and iris: normal; lens opacities categorized into C0N1P3 according to the lens opacities classification system II; surgery: phacoemulsification both eyes; on postoperative 1 week, the fundus examination after mydriasis: bilateral excavated macular coloboma about 1.5 x 1.5 disc diameter in size of the right eye and 2 x 2 disc diameter in size of the left eye, boundary of the defect legible; large choroidal vessels visible at the base and some pigment clumps located in the area around the defect in both eyes; optic discs of both eyes pale, cup to disc ratio about 0.5:1; optical coherence tomography: retina thinner than normal in macular region, multifocal electroretinography: no significant peak value; postoperative 1 day, intraocular pressure right/left eye: 28/29 mm Hg returned to normal after using brinzolamide eye drops; UCVA: 20/100 both eyes; BCVA: 20/70 both eyes
Diagnosis/Initial	-
Inheritance	Isolated (sporadic)
Diagnosis/Definite	congenital pigmented macular coloboma in combination with congenital cataract in both eyes
Age/Examination	11y (11 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	blurred vision in both eyes from childhood
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-09-16 12:30:21 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD

S100A8 (S100 calcium binding protein A8)

Phenotype #0000308914