Abstract
A 20-year-old male having a positive family history of Alport syndrome presented to us with bilateral sensorineural hearing loss, hematuria, anterior central lenticular opacity in the right eye (RE), and anterior lenticonus in the left eye (LE). The patient had high hyperopia of +10 and +11 Diopter sphere in RE and LE, respectively. The anterior chambers (AC) were shallow (peripheral AC depth, Van Herick grade 1 and 0) with occludable angles on gonioscopy in both eyes (BE), which led us to suspicion of nanophthalmos. The axial length of ~15.35 mm and retinal–choroidal–scleral thickness of ≥2.20 mm in BE, on B scan, confirmed the diagnosis of nanophthalmos. We report this unique case presenting with phenotypes of two genetically diverse disorders, which, to our knowledge, has never been reported before.
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