Category
page 1Syndromes affecting the eye
keratoconjunctivitis sicca
condition of having dry eyes
fragile X syndrome
congenital disorder of nervous system
Horner's syndrome
disease characterized by miosis (a constricted pupil), partial ptosis (a weak, droopy eyelid), apparent anhydrosis (decreased sweating), with apparent enophthalmos (inset eyeball)
Mobius syndrome
rare disease
Usher syndrome
syndrome characterized by a combination of hearing loss and visual impairment
computer vision syndrome
condition resulting from focusing the eyes on a screen for protracted, uninterrupted periods of time
oculocerebrorenal syndrome
Human disease
cat eye syndrome
disease
Duane retraction syndrome
a rare congenital disease characterized by external gaze palsy
Kearns-Sayre syndrome
spontaneous occuring or inherited mitochondrial myopathy with a typical onset before 20 years of age
tolosa-hunt syndrome
Human disease
Adie syndrome
neurological disorder characterized by a tonically dilated pupil
CHARGE syndrome
syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina
Pitt-Hopkins syndrome
rare genetic disorder characterized by developmental delay, epilepsy, distinctive facial features, and possible intermittent hyperventilation followed by apnea
chromosome 1p36 deletion syndrome
Human disease
Rothmund-Thomson syndrome
human disease
triple-A syndrome
autosomal recessive congenital disorder featuring insufficiency of tears, adrenal insufficiency, and esophageal dysfunction
Hallermann-Streiff syndrome
congenital disorder
Saethre-Chotzen syndrome
acrocephalosyndactylia that has material basis in a genetic mutation in the TWIST1 gene which results in premature fusion located in skull
Terson syndrome
occurrence of a vitreous hemorrhage of the human eye
Meige syndrome
cranio-facial dystonia that is accompanied by blepharospasm
Antley-Bixler syndrome
autosomal recessive disease that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene
Laurence-Moon syndrome
rare autosomal recessive genetic disorder associated with retinitis pigmentosa, spastic paraplegia, and mental disabilities
uveoparotid fever
Human disease
Marshall syndrome
medical condition
Axenfeld-Rieger syndrome
autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment
Jackson–Weiss syndrome
disease
Borjeson-Forssman-Lehmann syndrome
genetic condition in humans
Fraser syndrome
autosomal recessive congenital disorder
Freeman–Sheldon syndrome
rare congenital disorder
3-methylglutaconic aciduria type 3
3-methylglutaconic aciduria that has material basis in mutation in the OPA3 gene
Foster-Kennedy syndrome
Human disease
Brown's tendon sheath syndrome
Human disease
Donnai-Barrow syndrome
human disease
Stromme syndrome
human disease
Behr syndrome
medical condition
arterial tortuosity syndrome
connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta
CHIME syndrome
CHIME syndrome is a rare ectodermal dysplasia syndrome characterized by ocular colobomas, cardiac defects, ichthyosiform dermatosis, intellectual disability, conductive hearing loss and epilepsy
DeSanctis–Cacchione syndrome
rare autosomal recessive inherited syndrome. It is characterized by xeroderma pigmentosum, mental retardation, dwarfism, hypogonadism, and neurologic abnormalities
Marden–Walker syndrome
medical condition
Intraoperative floppy iris syndrome
medical condition
mitochondrial DNA depletion syndrome 1
Human disease
Nance-Horan syndrome
disorder of lens
Bonnet–Dechaume–Blanc syndrome
disease
Senior-Loken syndrome
autosomal recessive genetic disease characterized by progressive wasting of the filtering unit of the kidney (nephronophthisis), with or without medullary cystic renal disease, and progressive eye disease