Biomaterial Database

Juvenile X-linked retinoschisis presenting as juxtapapillary retinal fold mimicking combined hamartoma of the retina and retinal pigment epithelium. 2017

Renelle Pointdujour-Lim, and Emil Anthony T Say, and Carol L Shields

Ocular Oncology Service, Wills Eye Hospital, Thomas Jefferson University, Philadelphia, Pennsylvania.

A 21-month-old boy presumptively diagnosed with combined hamartoma of the retina and retinal pigment epithelium was found to have juvenile X-linked retinoschisis with vitreomacular traction and prominent retinal folding.

UI	MeSH Term	Description	Entries
D007223	Infant	A child between 1 and 23 months of age.	Infants
D008297	Male		Males
D010857	Pigment Epithelium of Eye	The layer of pigment-containing epithelial cells in the RETINA; the CILIARY BODY; and the IRIS in the eye.	Eye Pigment Epithelium
D003937	Diagnosis, Differential	Determination of which one of two or more diseases or conditions a patient is suffering from by systematically comparing and contrasting results of diagnostic measures.	Diagnoses, Differential,Differential Diagnoses,Differential Diagnosis
D005451	Fluorescein Angiography	Visualization of a vascular system after intravenous injection of a fluorescein solution. The images may be photographed or televised. It is used especially in studying the retinal and uveal vasculature.	Fluorescence Angiography,Fundus Fluorescence Photography,Angiography, Fluorescein,Angiography, Fluorescence,Fluorescence Photography, Fundus,Photography, Fundus Fluorescence
D005654	Fundus Oculi	The concave interior of the eye, consisting of the retina, the choroid, the sclera, the optic disk, and blood vessels, seen by means of the ophthalmoscope. (Cline et al., Dictionary of Visual Science, 4th ed)	Fundus of the Eye,Ocular Fundus,Fundus, Ocular
D006222	Hamartoma	A focal malformation resembling a neoplasm, composed of an overgrowth of mature cells and tissues that normally occur in the affected area.	Hamartomas
D006801	Humans	Members of the species Homo sapiens.	Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D014463	Ultrasonography	The visualization of deep structures of the body by recording the reflections or echoes of ultrasonic pulses directed into the tissues. Use of ultrasound for imaging or diagnostic purposes employs frequencies ranging from 1.6 to 10 megahertz.	Echography,Echotomography,Echotomography, Computer,Sonography, Medical,Tomography, Ultrasonic,Ultrasonic Diagnosis,Ultrasonic Imaging,Ultrasonographic Imaging,Computer Echotomography,Diagnosis, Ultrasonic,Diagnostic Ultrasound,Ultrasonic Tomography,Ultrasound Imaging,Diagnoses, Ultrasonic,Diagnostic Ultrasounds,Imaging, Ultrasonic,Imaging, Ultrasonographic,Imaging, Ultrasound,Imagings, Ultrasonographic,Imagings, Ultrasound,Medical Sonography,Ultrasonic Diagnoses,Ultrasonographic Imagings,Ultrasound, Diagnostic,Ultrasounds, Diagnostic
D041441	Retinoschisis	A vitreoretinal dystrophy characterized by splitting of the neuroretinal layers. It occurs in two forms: degenerative retinoschisis and X chromosome-linked juvenile retinoschisis.	Retinoschisis X-Linked Juvenile,Retinoschisis, Degenerative,Retinoschisis, Juvenile, X-Linked,X-Linked Juvenile Retinoschisis,X-Linked Retinoschisis,Congenital X-Linked Retinoschisis,Retinoschisis, Juvenile,Retinoschisis, Juvenile, X Chromosome-Linked,Retinoschisis, X-Linked,Congenital X Linked Retinoschisis,Congenital X-Linked Retinoschises,Degenerative Retinoschises,Degenerative Retinoschisis,Juvenile Retinoschises,Juvenile Retinoschises, X-Linked,Juvenile Retinoschisis,Juvenile Retinoschisis, X-Linked,Retinoschises,Retinoschises, Congenital X-Linked,Retinoschises, Degenerative,Retinoschises, Juvenile,Retinoschises, X-Linked,Retinoschises, X-Linked Juvenile,Retinoschisis, Congenital X-Linked,Retinoschisis, X Linked,Retinoschisis, X-Linked Juvenile,X Linked Juvenile Retinoschisis,X Linked Retinoschisis,X-Linked Juvenile Retinoschises,X-Linked Retinoschises,X-Linked Retinoschises, Congenital,X-Linked Retinoschisis, Congenital