Phenotype #0000305019

Individual ID	00413038
Associated disease	-
Phenotype details	born at 34 weeks’ gestation after an uncomplicated pregnancy, 10-day NICU stay due to respiratory distress that required intubation on the first day of life and 6 days of oxygen support; 25d: evaluated by a retina specialist and diagnosed with retinopathy of prematurity, in the presence of plus disease; bilateral intravitreal ranibizumab injections at a corrected gestational age of 38 weeks; 10m: both eyes: intraocular pressure was normal and the anterior segment was unremarkable; indirect ophthalmoscopy viewing in 360° with scleral depression: notable for incomplete vascularization without vascular tortuosity bilaterally; fluorescein angiography: peripheral avascularity, irregular sprouts of vascularization, and pruning of vessels without any area of leakage; optical coherence tomography and optical coherence tomography-angiography of the macula: normal findings in both eyes; A and B-scan of both eyes: no abnormality; treated with diode laser in the avascular zone of both eyes as well as intravitreal injions of bevacizumab bilaterally; last follow-up 3 months after examination and treatment, the patient remained stable
Diagnosis/Initial	retinopathy of prematurity
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	familial exudative vitreoretinopathy
Age/Examination	1y1m (1 year, 1 month)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-07-08 10:02:07 +02:00 (CEST)
Date last edited	N/A