Título / Title

GIANT UNILATERAL MACULAR HOLE: A RARE MANIFESTATION OF ALPORT SYNDROME

Introdução / Purpose

Alport syndrome (AS) is a rare hereditary disorder. Characterized by nephritic hematuria, progressive sensorineural deafness and characteristic ocular alterations. Mutations in COL4A3-5 genes result in a defect in type IV collagen synthesis causing loss of resistance and structural integrity of the basement membrane of the glomeruli, cochlea, cornea, lens capsule and retina. Yellow-whitish perimacular dots and flecks on the retina are the most common ophthalmic changes. The giant macular hole is a rare manifestation in this condition.

Material e Método / Methods

Review of patient's clinical data.

Resultados / Results

Male, 23 years old, non-consanguineous parents. Complaint of painless and progressive visual loss in both eyes (BE) beginning 6 years ago. He started a persistent hematuria, being diagnosed with nephritic syndrome, developed chronic progressive renal insufficiency 10 years ago and underwent renal transplantation 2 years ago with favorable evolution. Also presented sensorineural deafness. His mother has chronic hematuria. The eye exam presents corrected visual acuity: counts fingers in BE. Anterior segment exam: anterior lenticone (figure 1) in BE without other abnormalities. Fundoscopy: severe irregularity of the macular retinal floor in the right eye (RE) and giant macular hole in the left eye (LE). The investigations included color retinography (figure 2), optical coherence tomography (OCT), which evidenced significant thinning of the internal layers of the retina in RE and total thickness macular hole (figure 3) in LE. The diagnose of AS was established based on the classic triad associated with family history of hematuria.

Discussão e Conclusões / Conclusion

AS should be investigated in all young patients with chronic renal failure and hearing loss. Anterior lenticone is found in 25% of cases and is practically pathognomonic. Surgical treatment of the giant macular hole is challenging and has an unfavorable prognosis. Genetic counseling should be offered to patients.

Palavras Chave

Giant macular hole; anterior lenticone; alport syndrome