Glaucoma associated with congenital diseases

Aniridia

Aniridia is a bilateral congenital anomaly in which the iris is significantly underdeveloped, but a rudimentary iris rudiment is visible on gonioscopy. Dominant inheritance with high penetrance is observed in 2/3 of cases. A link with Wilms tumor is observed in 20% of cases: deletion of the short arm of chromosome 11 is responsible for the development of Wilms tumor and sporadic aniridia. Due to hypoplasia of the fovea and optic nerve, visual acuity is often poor. Other ocular conditions associated with aniridia include keratopathy, cataracts (60-80%) and lens dislocation. Aniridia often presents with photophobia, nystagmus, decreased vision and strabismus. Progressive corneal opacity at the periphery and pannus throughout the circumference are usually observed.

Aniridia-associated glaucoma does not usually develop until adolescence or young adulthood. It may be caused by trabeculodysgenesis or progressive blockage of the trabecular meshwork by residual iris. If such glaucoma develops in early childhood, goniotomy or trabeculotomy may be indicated. It has been shown that early goniotomy can prevent progressive adhesion of residual peripheral iris to the trabecular meshwork.

In older children, medical therapy should be used initially to control intraocular pressure. Any surgical intervention is risky because of the possibility of damaging the unprotected lens and zonular ligaments, and drainage carries a high risk of vitreous infringement. Cyclodestructive surgery may be indicated for some patients with uncontrolled, advanced glaucoma.

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Axenfeld's anomaly

Axenfeld anomaly is characterized by abnormalities of the peripheral cornea, anterior chamber angle, and iris. A prominent Schwalbe line, known as posterior embryotoxon, is a peripheral corneal lesion. Strands of iris attached to the posterior embryotoxon and hypoplasia of the anterior iris stroma may be seen. The disorder is usually bilateral and inherited in an autosomal dominant fashion.

Glaucoma is diagnosed in 50% of cases of Axenfeld syndrome. If glaucoma occurs in infants, goniotomy or trabeculotomy is often effective. If glaucoma occurs later, medication should be used first, and then, if necessary, fistulizing surgery.

Rieger's anomaly

Rieger's anomaly is a more pronounced degree of dysgenesis of the anterior chamber angle. In addition to the clinical aspect described in Axenfeld's anomaly, pronounced hypoplasia of the iris with polycoria and ectopia pupillae is observed. This anomaly is usually bilateral, inherited in an autosomal dominant manner, and sporadic cases may also occur. Glaucoma develops in more than half of the cases, often requiring surgical treatment.

Rieger's syndrome

Rieger syndrome is a combination of Rieger anomaly features with systemic malformations. The most common associated systemic anomalies are developmental defects of teeth and claws, facial skull. Dental anomalies include decreased tooth size (microdontia), decreased number of teeth, equal interdental intervals, and focal absence of teeth (usually anterior maxillary primary or permanent central incisors).

Because the changes in the anterior chamber angle in these conditions are similar, they are thought to be variants of developmental anomalies called cleft anterior chamber syndrome and mesodermal dysgenesis of the cornea and iris. They are also known as Axenfeld-Rieger syndrome.

Peter's Anomaly

Peter's anomaly is a severe anterior chamber malformation. There is corneal opacity associated with a posterior stromal defect (Von Hippel corneal ulcer). The fusion of the iris and cornea may involve the lens in the absence of the corneal endothelium. Peter's anomaly is bilateral and is often associated with glaucoma and cataracts. Corneal transplantation with simultaneous cataract removal to improve visual acuity has a guarded prognosis. In these cases, trabeculectomy or drainage devices are indicated to control glaucoma.

Marfan syndrome

Marfan syndrome is characterized by musculoskeletal abnormalities: arachnodactyly, tall stature, long limbs, hyperextension of joints, scoliosis, cardiovascular disease, and ocular abnormalities. Inheritance is autosomal dominant with high penetrance, but approximately 15% of cases are sporadic.

Ocular symptoms include lens dislocation, microphakia, megalocornea, myopia, keratoconus, iris hypoplasia, retinal detachment, and glaucoma.

The zonular ligaments are often weakened and torn, leading to superior subluxation of the lens (the lens may also become trapped in the pupil or prolapse into the anterior chamber, leading to glaucoma).

Often in childhood or adolescence, open-angle glaucoma can develop, which is associated with congenital anomalies of the anterior chamber angle. Dense processes of the iris are thrown over the deepening of the angle, attaching in front of the scleral spur. The iris tissue covering the deepening can have a convex shape. Glaucoma usually develops in older childhood, and drug therapy should be used at first.

Microspherophakia

Microspherophakia may be an isolated pathology, inherited in an autosomal recessive or dominant manner, or associated with Weill-Marchesani syndrome. The syndrome is characterized by short stature, brachydactyly, brachycephaly, and microspherophakia. The lens is small, spherical, and may shift anteriorly, causing pupillary block glaucoma. Closed-angle glaucoma can be treated with mydriatics, iridectomy, or lens removal. Glaucoma usually develops in late childhood or adolescence.

Sturge-Weber syndrome (encephalotrigeminal angiomatosis)

Sturge-Weber syndrome is characterized by a facial hemangioma that extends along the trigeminal nerve fibers. The hemangioma is usually unilateral, but can be bilateral. Conjunctival, episcleral, and choroidal anomalies are common. Diffuse vascular lesions are called "tomato-ketchup" bottom. No clear pattern of inheritance has been identified.

Glaucoma most often occurs when a facial hemangioma on the same side extends into the eyelids and conjunctiva. Glaucoma may occur in infancy, late childhood, or adolescence. Glaucoma that occurs in infancy is similar to glaucoma associated with isolated trabeculodysgenesis and responds well to goniotomy.

Glaucoma that occurs later is probably due to increased pressure in the episcleral veins due to arteriovenous fistulas. In older children, treatment should begin with medication. If medication is ineffective, trabeculectomy is indicated. Fistulizing surgery is associated with a high risk of choroidal hemorrhage; during such operations, the depth of the anterior chamber decreases due to a decrease in intraocular pressure. The level of intraocular pressure falls below arterial pressure, which leads to the release of choroidal fluid into the surrounding tissues.

Neurofibromatosis

Neurofibromatosis is a hereditary disorder of the neuroectoderm that manifests itself as hamartomas of the skin, eyes, and nervous system. The syndrome primarily affects tissues that develop from the neural crest, in particular sensory nerves, Schwann cells, and melanocytes.

There are two forms of neurofibromatosis: NF-1, or classic neurofibromatosis of Recklinghausen, and NF-2, or bilateral acoustic neurofibromatosis. NF-1 is the most common form, with skin lesions such as café-au-lait spots, cutaneous neurofibromatosis, iris hamartomas (Lisch nodules), and optic nerve gliomas. NF-1 occurs in approximately 0.05% of the population, with an incidence of 1 in 30,000. It is inherited in an autosomal dominant pattern with complete penetrance. NF-2 is less common, with an incidence of approximately 1 in 50,000.

Cutaneous manifestations include café-au-lait macules, which appear as hyperpigmented areas anywhere on the body and tend to enlarge with age. Numerous neurofibromas are benign tumors of the connective tissue of the nervous system, ranging in size from tiny isolated nodules to large soft, pedunculated lesions. Ophthalmologic manifestations include: iris hamartomas, which present clinically as bilateral, smooth, raised, dome-shaped lesions; plexiform neurofibromas of the upper eyelid, which appear as thickened eyelid margins with ptosis and S-shaped deformity; retinal tumors, most commonly astrocytic hamartomas; optic nerve gliomas, which present with unilateral decreased visual acuity or strabismus, are seen in 25% of cases. Ipsilateral glaucoma occasionally develops, often associated with plexiform neurofibroma of the upper eyelid.