Dr.MASHRU NANDISH RASHMIKANT
Aim: To study phenotypic presentation and OCT characteristics of aniridia patients in two families.
Methods: Clinical presentation and optical coherence tomography data of members of two families with aniridia were analysed.
Results: In a family of 5 patients, 2 out of 3 daughters were visually impaired with vision of 5/60 to 6/60 and had macular hypoplasia and nystagmus while father had only aniridia with 6/9 vision and normal macula. While mother and one daughter were normal. In a family of 2 patients, father had partial aniridia with keratopathy in only one eye with 6/24. OCT was not possible in father due to dense cataract in both eyes. Son had cataract with subluxation of lens, glaucoma, macular hypoplasia and nystagmus with 6/36 and 1/60 vision.
Conclusion: Aniridia can present with different phenotypic features due to difference in penetrance in the same family. Macular hypoplasia can be confirmed by OCT features.
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