Journal of Pediatric Ophthalmology and Strabismus

Rieger's Syndrome: (Oligodontia and Primary Mesodermal Dysgenesis of the Iris) Clinical Features and Report of an Isolated Case

Richard K Wesley, DDS, MSD; John D Baker, MD; Arnold L Golnick, DDS, MS

Abstract

Rieger's syndrome is a rare mesoectodermal condition characterized by hypodontia and/or microdontia of teeth and dysgenesis of the iris and cornea of the eye. The association of the dental and ocular anomalies was first recognized and described by Rieger in 1935.1 When the ocular manifestation occurs alone, the condition is referred to as Rieger's anomaly, whereas when the clinical manifestations include dental, ocular, and other abnormalities the condition is designated as Rieger's syndrome.2

The mesodermal dysplasia of the syndrome involves the anterior segment of the eye and includes:3'4

1 . Partial or complete hypoplasia of the anterior stroma of the iris;

2. Mesodermal fibers and bands crossing the angle of the anterior chamber and inserting into the Schwalbe's line;

3. Posterior embryotoxon or a prominence of the anterior border of Schwalbe.

The major ectodermal disturbance of the syndrome affects the dentition. The dental changes range from partial to complete anodontia, the maxillary central incisors being most commonly absent.5

In Rieger's syndrome there may be a broad range of expressivity and many nonocular and nondental findings have been reported (Table I).5'8

The purpose of this article is to present the ocular, dental, and pertinent clinical featuresof a sporadic case of Rieger's syndrome in an 1 1 - year-old female.

CASE REPORT

An 1 1 -year-old female was seen in the dental clinic with the chief complaint of lack of eruption of her maxillary primary or permanent anterior central and lateral incisors. Past medical history revealed thatthe patient was the product of a pregnancy complicated by some vaginal bleeding during the fourth month of pregnancy. The delivery was normal and the child weighed eight pounds, two ounces at birth. When the patient was five months old, the mother first beca me concerned about the appearance of the child's eyes. The mother stated that the anterior primary teeth never erupted (Fig. 1). Dental radiographs failed to reveal the presence of primary or permanent anterior maxillary teeth (Fig. 2). The upper lip exhibited slight recession secondary to the loss of dentition.

Previous ocular history revealed that tha patient had worn glasses since age two and had ocular pressure determinations regularly since six months of age. Ocular examination showed best vision in the right eye 20/30 with correction +2.75 = 4-2.50 ? 94. In the left eye, the best vision was 20/25 with correction of +3.00=1.25 ? 94. Both fundi were normal. Applanation tension measured 22 inthe right and 20 in the left. An esotropia at a distance measuring 40 prism diopters without correction and 20 prism diopters with correction was seen. This esotropia at near measured 50 prism diopters without correction and 30 prism diopters with correctron. Sensory testing showed alternate suppression at both near and distance.

Numerous other nonocular anomalies have been reported in this syndrome, mainly myotonic dystrophy and mental retardation. 2,4-6,10-12

This 11-year-old female manifested the ocular and dental abnormalities which fulfill the criteria for Rieger's syndrome. Her ocular findings included: bilateral prominent Schwalbe's line, iridocorneal adhesions, and irregular dyscoric and ectopic pupils as well as esotropia. Her intraocular pressure was checked regularly since the age of six months and she showed no evidence of glaucoma.

Her main nonocular problem was partial anodontia. Since birth her primary and permanent central and lateral incisors failed to develop.

These ocular and nonocular manifestations in this 11 -year-old female provided sufficient evidence to characterize this patient as having Rieger's syndrome.

SUMMARY

An 11 -year-old female manifested bilateral prominent Schwalbe's line, iridai adhesions, displaced and irregular pupils. She had no evidence of juvenile glaucoma. The major nonocular finding in this patient was the congenital absence…

Rieger's syndrome is a rare mesoectodermal condition characterized by hypodontia and/or microdontia of teeth and dysgenesis of the iris and cornea of the eye. The association of the dental and ocular anomalies was first recognized and described by Rieger in 1935.1 When the ocular manifestation occurs alone, the condition is referred to as Rieger's anomaly, whereas when the clinical manifestations include dental, ocular, and other abnormalities the condition is designated as Rieger's syndrome.2

The mesodermal dysplasia of the syndrome involves the anterior segment of the eye and includes:3'4

1 . Partial or complete hypoplasia of the anterior stroma of the iris;

2. Mesodermal fibers and bands crossing the angle of the anterior chamber and inserting into the Schwalbe's line;

3. Posterior embryotoxon or a prominence of the anterior border of Schwalbe.

The major ectodermal disturbance of the syndrome affects the dentition. The dental changes range from partial to complete anodontia, the maxillary central incisors being most commonly absent.5

In Rieger's syndrome there may be a broad range of expressivity and many nonocular and nondental findings have been reported (Table I).5'8

The purpose of this article is to present the ocular, dental, and pertinent clinical featuresof a sporadic case of Rieger's syndrome in an 1 1 - year-old female.

CASE REPORT

An 1 1 -year-old female was seen in the dental clinic with the chief complaint of lack of eruption of her maxillary primary or permanent anterior central and lateral incisors. Past medical history revealed thatthe patient was the product of a pregnancy complicated by some vaginal bleeding during the fourth month of pregnancy. The delivery was normal and the child weighed eight pounds, two ounces at birth. When the patient was five months old, the mother first beca me concerned about the appearance of the child's eyes. The mother stated that the anterior primary teeth never erupted (Fig. 1). Dental radiographs failed to reveal the presence of primary or permanent anterior maxillary teeth (Fig. 2). The upper lip exhibited slight recession secondary to the loss of dentition.

Previous ocular history revealed that tha patient had worn glasses since age two and had ocular pressure determinations regularly since six months of age. Ocular examination showed best vision in the right eye 20/30 with correction +2.75 = 4-2.50 ? 94. In the left eye, the best vision was 20/25 with correction of +3.00=1.25 ? 94. Both fundi were normal. Applanation tension measured 22 inthe right and 20 in the left. An esotropia at a distance measuring 40 prism diopters without correction and 20 prism diopters with correction was seen. This esotropia at near measured 50 prism diopters without correction and 30 prism diopters with correctron. Sensory testing showed alternate suppression at both near and distance.

Fig. 1. Intraoral photograph of an 11 -year-old female exhibiting congenital absence of the maxillary central and lateral incisors.

Fig. 1. Intraoral photograph of an 11 -year-old female exhibiting congenital absence of the maxillary central and lateral incisors.

Fig. 2. Panographic examination reveals congenital absence of the primary maxillary central and lateral incisors as well as absence of succedaneous permanent teeth.

Fig. 2. Panographic examination reveals congenital absence of the primary maxillary central and lateral incisors as well as absence of succedaneous permanent teeth.

Inferiorly displaced oval pupils were present in each eye along with an ectropion uvea in the inferior portion of the right pupil (Fig. 3). Each iris showed considerable stromal hypoplasia. Pigment hypoplasia in the form of translucent areas or iris holes were seen in the right eye at 9 o'clock and inthe left eye at 8 and 6 o'clock (Fig. 4). Posterior corneal embryotoxon or prominent Schwalbe 's line were present in each eye with iridocorneal adhesions seen in the right eye from 6-7:30 and 9-11 o'clock. The left eye had similar iridocorneal adhesions to the prominent Schwa Ibe's line at 2:30 to 3:30 and 5:30to 7:00o'clock. A normal conjunctiva and sclera with clear lens and no corneal opacities were also noted in each eye. The intercanthal and interpupillary distances were within normal limits (Fig. 5).

Fig. 3. Clinical appearance of right eye showing oval eccentric pupil and iris hypoplasia at 9 o'clock.

Fig. 3. Clinical appearance of right eye showing oval eccentric pupil and iris hypoplasia at 9 o'clock.

Neurologic examination indicated that the child was hyperkinetic with chorieform movements but lacking any evidence of myotonic dystrophy. Although the child was somewhat slow intellectually, she was not retarded. The family history was negative for any features of the syndrome as far as the mother's side was concerned, and no family history was available on the father's side. Ali other members of the family were examined and did not exhibit features of the syndrome.

DISCUSSION

The most extensive study of Rieger's syndrome was made by Alkemade5 who surveyed 151 cases from the literature and carried out extensive clinical and genetic studies on 1 2 of his own patients. According to his findings the syndrome exhibits no sex predilection, and the major clinical features, which are summarized in Table I, include the following:

Primary and Secondary Ocular Features

The major criteria for the diagnosis of primary mesodermal dysgenesis of the iris includes: hypoplasia of the anterior iris stroma; abnormalities of the iridocorneal angle, including prominent Schwalbe's line the iris strands to the Schwalbe's line.5'7

Fig. 4. Clinical appearance of the left eye exhibiting esotropia and iris stromal hypoplasia.

Fig. 4. Clinical appearance of the left eye exhibiting esotropia and iris stromal hypoplasia.

Fig. 5. Both eyes exhibiting esotropia which is especially prominent in the right eye. A normal sclera and a lack of corneal opacities is present.

Fig. 5. Both eyes exhibiting esotropia which is especially prominent in the right eye. A normal sclera and a lack of corneal opacities is present.

Patients with Rieger's syndrome have a higher than normal incidence of astigmatism and marked ametropia. They manifest a significant frequency of ocular motility abnormalities primarily exotropia and esotropia. Patients with the syndrome may have a wider range of corneal diameters than are seen in the normal population. In addition, patients may manifest macrocorneas and microcorneas.

All patients with primary mesodermal dysgenesis show a hypoplasia of the stroma of the iris. Other iridai and pupillary abnormalities include variations in size, shape, and location of the pupil. The pupil is frequently ectopic, located below the horizontal and exhibits dyscoria, often oval, triangular, slit-shaped, or egg-shaped.

Of the ocular changes that occur in the syndrome, the defect of major clinical significance isthe development of juvenile or infantile type of glaucoma which may result in blindness. Glaucoma occurs in up to 60 percent of these patients and may appear from birth through the first decade. The glaucoma is characterized by a reduced outflow of aqueous humor as a result of increased resistance to outflow. This is secondary to a defect or retardation of structural differentiation of the corneoscleral trabeculae and anterior wall of the canal of Schlemm.5

Associated Nonocular Findings

The major nonocular findings in patients manifesting this syndrome is total or partial anodontia. Most commonly the anterior maxillary primary and permanent central incisors are congenitally missing although other teeth have been reported absent.*-6'9

Table

TABLE IMAJOR OCULAR AND ASSOCIATED NONOCULAR FINDINGS OF RIEGER'S SYNDROME

TABLE I

MAJOR OCULAR AND ASSOCIATED NONOCULAR FINDINGS OF RIEGER'S SYNDROME

Numerous other nonocular anomalies have been reported in this syndrome, mainly myotonic dystrophy and mental retardation. 2,4-6,10-12

This 11-year-old female manifested the ocular and dental abnormalities which fulfill the criteria for Rieger's syndrome. Her ocular findings included: bilateral prominent Schwalbe's line, iridocorneal adhesions, and irregular dyscoric and ectopic pupils as well as esotropia. Her intraocular pressure was checked regularly since the age of six months and she showed no evidence of glaucoma.

Her main nonocular problem was partial anodontia. Since birth her primary and permanent central and lateral incisors failed to develop.

These ocular and nonocular manifestations in this 11 -year-old female provided sufficient evidence to characterize this patient as having Rieger's syndrome.

SUMMARY

An 11 -year-old female manifested bilateral prominent Schwalbe's line, iridai adhesions, displaced and irregular pupils. She had no evidence of juvenile glaucoma. The major nonocular finding in this patient was the congenital absence of her primary and permanent maxillary central and lateral incisors.

Although missing or malformed teeth may occur in other conditions such as Down's syndrome, focal dermal hypoplasia syndrome, anhidrotic ectodermal dysplasia, chondroectodermal dysplasia, and incontinentia pigmenti, the clinician should include Rieger's syndrome in his differential diagnosis in patients with oligodontia in combination with malformation of the anterior chamber of the eye.

Rieger's syndrome is a rare condition characterized by ocular and dental abnormalities, namely mesoectodermal dysgenesis of the iris and cornea of the eyes and hypodontia of the dentition. This report presents a sporadic case of Rieger's syndrome in an 1 1 -year-old female and discusses the pertinent clinical features of this condition.

ACKNOWLEDGMENTS

The authors wishto thank Ms. Dianna Melocheand Ms. Gretchen Zimmerman of the Department of Ophthalmology, Children's Hospital of Michigan and the University of Detroit Dental School for their skillful typing of this manuscript, and the audio-visual department of the Children's Hospital of Michigan for their aid and assistance with the photographs.

REFERENCES

1. Rieger H: Beitrage zur Kenntnis Seltener Missbildungen der Iris. Graefe Arch Ophthalmol 133:602, 1935.

2. Gorlin RJ, Pindborg JJ, Cohen MM: Syndromes of the Head and Neck, Ed 2. New York, McGrawHill Inc., 1976, pp 649-651.

3. Hertkind P, Sigel IM, Carr RE: Mesodermal dysgenesis of the anterior segment: Rieger's anomaly. Arch Ophthalmol 73:810, 1965.

4. Busch G, Weiskopf J, Busch KT: Dysgenesis mesodermalis et ectodermalis Rieger oder Rieger's disease. Klin Monatsbl Augenheilkd 136:512, 1960.

5. Alkemade PPH: Dysgenesis mesodermalis of the iris and cornea, a study of Rieger's syndrome and Peter's anomaly, Springfield, Illinois, Charles C. Thomas, 1969, pp 11-192.

6. Langdon JD: Rieger's syndrome. Oral Surg 30:789, 1970.

7. Waring GO, Rodrigues MM, Laibson PR: Anterior chamber cleavage syndrome, a stepladder classification. Surv Ophthalmol 20:3, 1975.

8. Feingold M, Shiere F, Fogels HR, et al: Rieger's syndrome. Pediatr 44:564, 1969.

9. Gorlin RJ, Sedano HO: Oral manifestations of systemic and genetic disorders. Postgrad Med 49:155, 1971.

10. Summitt RL, Hiatt RL, Duenas D et al: Mesoectodermal dysplasia of the iris and cornea, mental retardation and myopathy: a sporadic case. Birth Defects 7:129, 1971.

11. Sadeghi-Nejar A, Senior B: Autosomal dominant transmission of isolated growth hormone deficiency in iris-dental dysplasia, (Rieger's syndrome). J Pediatr 85(5):644. 1974.

12. Tabbara KF, Khouri KP, Kaloustian VM: Rieger's syndrome with chromosomal anomaly. Canad J Ophthalmol 8:488, 1973.

TABLE I

MAJOR OCULAR AND ASSOCIATED NONOCULAR FINDINGS OF RIEGER'S SYNDROME

10.3928/0191-3913-19780301-03

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