Rieger anomaly is one of the component terms given to a spectrum of disorders collectively called Axenfeld-Rieger syndrome, a rare genetic disorder, caused by mutations in at least two genes, namely FOXC1 AND PITX2.
These mutations interfere with the early development at the stage of the neural crest. Hence, the disease manifestations appear later in childhood or adolescence.
Currently, there is no treatment for the disease at its root cause. But the symptoms can be managed.
The disease primarily causes multiple ocular dysfunctions, leading to glaucoma wherein the fluid pressure in the eyeballs increases, finally leading to blindness, if left untreated. Therefore, the only course of treatment is the management of glaucoma.
Reduction of intraocular pressure is the only way to manage glaucoma either using drugs or surgically.
Classes of topical medications approved, and respective drugs are as follows
1. Prostaglandin analogues: Latanoprost, travoprost, tafluprost, unoprostone, brimatopros.
2. β-Adrenergic blockers: Timolol, levobunolol, carteolol, metipranolol, betaxolol.
3. α-Adrenergic agonists: Brimonidine, apraclonidine.
4. Carbonic anhydrase inhibitors: Dorzolamide, brinzolamide, acetazolamide.
5. Cholinergic agonists: Pilocarpine, carbachol.
2. Deep sclerectomy
5. Trans-scleral diode cyclophotocoagulation
A few scientific literatures claim that growth hormones alleviate the symptoms, but there is no experimental evidence to support them.
Gradual loss of vision,Pain in eyes due to ocular dysfunctions,Aesthetic concerns and inferiority complex due to facial and dental abnormalities,Constipation,Uneasiness and bleeding during bowel movement due to anal stenosis
Correctopia(pupil shifted off-center),Polycoria(multiple pupils),Hypertelorism(widely spaced eyes),Relatively flat nasal bridge,Dental abnormalities including microdontia(unusually small teeth) or oligodontia(fewer than normal teeth),Redundant periumbilical skin(extra folds of skin around belly button),Heart defects,Hypospadias(the opening of the urethra on the underside of the penis),Anal stenosis(narrowing of the anus),Malfunctioning of pituitary gland that can result in slow growth
Prostaglandin analogues: Latanoprost, travoprost, tafluprost, unoprostone, brimatopros,β-Adrenergic blockers: Timolol, levobunolol, carteolol, metipranolol, betaxolol,α-Adrenergic agonists: Brimonidine, apraclonidine,Carbonic anhydrase inhibitors: Dorzolamide, brinzolamide, acetazolamide,Cholinergic agonists: Pilocarpine, carbachol