Karandikar Maria Kamble syndrome
Overview
A very rare syndrome characterized mainly by cataracts, mental retardation and genitourinary tract abnormalities
Symptoms
* Cataract * Mental retardation * Anal atresia * Urinary defects * Rectovesical fistula * Undescended testes * Imperforate anus * Hypospadias * Nystagmus * Weak eye muscles
Treatment
Treatment consists of surgical extraction of the cataractous lens opacity and intraoperative correction of visual deficits. The current trend is to perform the surgery as a same-day procedure. Surgical procedures include the following: * Extracapsular cataract extraction (ECCE) removes the anterior lens capsule and cortex, leaving the posterior capsule intact. With this procedure, a posterior chamber intraocular lens (IOL) is implanted where the patient’s own lens used to be. (A posterior chamber IOL is currently the most common type used in the United States.) This procedure is appropriate for use in patients of all ages. * Phacoemulsification uses ultrasonic vibrations to fragment and then emulsify the lens, which is then aspirated through a small incision. * Intracapsular cataract extraction removes the entire lens within the intact capsule. This procedure is seldom performed today. ECCE with phacoemulsification has replaced it as the most commonly performed procedure. * Discission and aspiration can still be used for children with soft cataracts, but this procedure has largely been replaced by phacoemulsification. Infection is the most serious complication of intraocular surgery. Wound dehiscence can occur but is seldom a complication because of the small incision and minute sutures that are used. Hyphema, pupillary block glaucoma , and retinal detachment still occasionally occur. The patient with an IOL implant may experience improved vision shortly after surgery if there’s no corneal or retinal pathology. Most IOLs correct for distance vision, but new IOLs are multifocal. However, the majority of patients will need either corrective reading glasses or a corrective contact lens, which will be fitted sometime between 4 and 6 weeks after surgery. Where no IOL has been implanted, the patient may be given temporary aphakic cataract glasses; in about 4 to 8 weeks, he’ll be refracted for his own glasses. Some patients who have an extracapsular cataract extraction develop a secondary membrane in the posterior lens capsule (which has been left intact), which causes decreased visual acuity. This membrane can be removed by the Nd:YAG laser, which cuts an area out of the center of the membrane, thereby restoring vision. Laser therapy isn’t used to remove a cataract. Posterior capsular opacification occurs in approximately 15% to 20% of all patients within 2 years after cataract surgery.