Atul Thadani1 , Abhishek Katiyar2 , Yusuf Rizvi3 , Abhilasha Dhankhar4
Two sibling patients aged 16 & 18 years reported at this tertiary hospital with symptoms of bilateral painless diminution of vision noticed for previous 4 & 2 years respectively. Refractive corrections did not result in tangible visual improvements. Unaided visual status of counting fingers at 1 metre (OD) & ½ metre (OS) in the 16 years old female and ½ metre (OD) and 4 metres (OS) in the 18 years old male patient foretold a similar clinical handicap. Anterior segment evaluations revealed overt superonasal subluxation of lens in the female patient while an inferior temporal zonular dehiscence, phacodonesis & a propensity for ectopia lentis were observed in the male sibling. Intra ocular pressures of 15 mmHg (OD) & 17 mmHg (OS) in the male and 14 & 16 mmHg respectively in the female patient as on Applanation tonometry ruled out glaucomatous aetiology for poor vision. Similarly, all biometric evaluations of the globe in both patients were within normal range. Posterior segment evaluation employing fundus photography noted oval hyperaemic disc with blurred margins and absent cup with tessellated background. Optical coherence tomographic picture was unremarkable except for a pigment epithelial defect in one of the eyes.
