A 15-year-old boy presented with complaints of a painless, gradually progressive diminution of vision for the past 5 years. On ocular examination, his best corrected visual acuity was 20/120 in both eyes. Streak retinoscopy revealed an irregular astigmatism in both eyes. Intraocular pressure was 18 mm Hg in his right eye and 16 mm Hg in his left eye. On distance direct ophthalmoscopy, oil droplet reflex was seen in both eyes (Figure 1A). The slit-lamp examination showed bulging in the anterior and posterior capsule in both eyes (Figure 1B). The rest of the anterior segment examination was normal. Fundus examination and retinal periphery were within normal limits. On retrospective questioning, the patient gave a history of a hearing impairment. His urine examination revealed microscopic hematuria. Weber and Rinne's test revealed sensorineural hearing loss. No significant family history was present. The patient was given the option of clear lens extraction with intraocular lens implantation and referred to a higher center for further systemic management.
What's Your Diagnosis?
For the correct answer, see page 253.
The answer for What's Your Diagnosis? is Alport syndrome.
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