Axenfeld–Rieger anomaly with secondary glaucoma and systemic features in a 33-year-old male: A case report

INTRODUCTION

Axenfeld–Rieger anomaly is a spectrum of anterior segment dysgenesis disorders resulting from abnormal neural crest cell migration and differentiation.^1,2 It is commonly associated with iris abnormalities, angle anomalies, and a high risk of secondary glaucoma.^3,4 Systemic associations such as dental, facial, and abdominal wall anomalies may also be present. Early diagnosis is critical to prevent irreversible visual loss, particularly from glaucoma.^5,6

CASE REPORT

A 33-year-old male laborer presented with complaints of progressive dimness of vision in the right eye for the past 13 years, associated with photophobia. There was no history of acute pain or redness. His left eye had been blind since childhood following trauma.

Family history revealed that his younger brother had similar ocular complaints, suggesting a possible hereditary component.

On examination, his visual acuity was counting fingers at 2 ft in the right eye and no perception of light (NPL) in the left eye. The left eye was phthisic [Figure 1].

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Figure 1: Phthicical eye.

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Anterior segment examination of the right eye revealed multiple iris abnormalities, including iris atrophy, polyzoaria, cecropia, and a slit-shaped pupil.[Figure 2] Lens examination showed nuclear sclerosis grade 3 cataract.

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Figure 2: Polycoria, corectopia and iris atrophy

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Intraocular pressure in the right eye was 24 mmHg, consistent with open-angle glaucoma. Gonioscopy findings revealed irregular angle structures characteristic of Axenfeld–Rieger spectrum [Figure 3].

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Figure 3: Irregular angle structures on gonioscopy.

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Systemic examination revealed redundant periumbilical skin folds, midfacial hypoplasia, broad nasal bridge and microdontia [Figure 4], suggesting associated systemic involvement.

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Figure 4: (a) Microdontia and (b) Periumbilical skin fold

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DISCUSSION

Axenfeld–Rieger anomaly represents a spectrum of anterior segment dysgenesis, often inherited in an autosomal dominant pattern with variable expressivity.^2,5 Mutations in genes such as PITX2 and FOXC1 are commonly implicated.⁵

Ocular features typically include posterior embryotoxemia, iris strands, corneal ectopia, polyzoaria, and iris hypoplasia.^1,2 Approximately 50% of patients develop glaucoma due to abnormal angle structures,^4,6 often presenting in adolescence or early adulthood.

In this case, the patient exhibited classical iris abnormalities along with elevated intraocular pressure, confirming secondary open-angle glaucoma. The presence of a similarly affected sibling supports a genetic basis.

Systemic features in Axenfeld–Rieger syndrome may include craniofacial dysmorphism, dental anomalies, and redundant periumbilical skin,^3,5 as observed in this patient.

The left eye blindness was attributed to trauma and unrelated to the primary pathology; however, it further compounded the patient’s visual disability.

Management primarily focuses on controlling intraocular pressure to prevent progression of glaucomatous optic neuropathy. Cataract surgery and papilledema may be considered depending on visual potential. Genetic counselling and family screening are essential due to the hereditary nature of the disease. Colored contact lenses and sunglasses will be helpful for photophobia.

CONCLUSION

This case underscores the importance of recognizing the clinical spectrum of Axenfeld–Rieger anomaly, especially in patients presenting with characteristic iris abnormalities and glaucoma. Early diagnosis, appropriate management of intraocular pressure, and screening of family members are crucial in preventing visual morbidity.